Hypogammaglobulinemia: Difference between revisions

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{{SI}}
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{{CMG}}; {{shyam}} {{AE}} {{OK}} {{Vbe}}


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==Overview==
==Overview==
'''Hypogammaglobulinemia''' is a type of [[primary immune deficiency]] disease.<ref>{{DorlandsDict|four/000051615|hypogammaglobulinemia}}</ref>
'''Hypogammaglobulinemia''' is a type of [[primary immune deficiency]] disease. "Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "[[X-linked agammaglobulinemia]]") it implies that gamma globulins are not merely reduced, but completely absent. Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias,but the distinction is not usually clinically relevant. "Hypogammaglobulinemia" is distinguished from [[dysgammaglobulinemia]], which is a reduction in some types of [[gamma globulin]]s, but not others.
 
Hypogammaglobulinemia is a characteristic of [[common variable immunodeficiency]].<ref>{{DorlandsDict|four/000052585|common variable immunodeficiency}}</ref>
"Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "[[X-linked agammaglobulinemia]]") it implies that gamma globulins are not merely reduced, but completely absent. Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias,<ref>{{DorlandsDict|one/000002160|agammaglobulinemia}}</ref> but the distinction is not usually clinically relevant.
 
"Hypogammaglobulinemia" is distinguished from [[dysgammaglobulinemia]], which is a reduction in some types of [[gamma globulin]]s, but not others.<ref>{{DorlandsDict|three/000033050|Dysgammaglobulinemia}}</ref>
 
==Historical Perspective==
==Historical Perspective==
[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
* Dr. Robert A Good and March of dimes foundation maintained a close association for a quarter century in the fight against [[immunodeficiency]] [[diseases]].<ref name="pmid17917009">{{cite journal |vauthors=Rose DW |title=Robert A. Good, the March of Dimes, and immunodeficiency: an historical perspective |journal=Immunol. Res. |volume=38 |issue=1-3 |pages=51–4 |date=2007 |pmid=17917009 |doi= |url=}}</ref>
 
The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
 
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
 
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].


There have been several outbreaks of [disease name], including -----.
*[[Immunodeficiency]] [[diseases]] such as [[ataxia telangiectasia]] have been described as early as 1920's, wiskott aldrich's during 1930's.
 
* Between 1950-1965, primary [[immunodeficiencies]] affecting all major levels of [[immune system]] were first described.<ref name="pmid8433870">{{cite journal |vauthors=Stiehm ER |title=New and old immunodeficiencies |journal=Pediatr. Res. |volume=33 |issue=1 Suppl |pages=S2–7; discussion S7–8 |date=January 1993 |pmid=8433870 |doi=10.1203/00006450-199305001-00007 |url=}}</ref>
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].
*<nowiki/>Use of [[immunoglobulins]] for the treatmen<nowiki/>t of hypogammaglobulinemia was practised as early as 1950's.<ref name="pmid13357304">{{cite journal |vauthors= |title=USE OF immune globulins for the treatment of agammaglobulinemia or hypogammaglobulinemia |journal=J Am Med Assoc |volume=162 |issue=2 |pages=117 |date=September 1956 |pmid=13357304 |doi= |url=}}</ref>
* [[Therapeutic]] results in the use of human<nowiki/> serum [[gamma globulins]] have been published during the late 1950's. <ref name="pmid13623695">{{cite journal |vauthors=SOULIER JP, BADILLET M, HERZOG F |title=[Therapeutic results in the use of human serum gamma globulins; survey of 6, 602 cases. I. Main indications for their use in infections diseases] |language=French |journal=Presse Med |volume=66 |issue=84 |pages=1881–4 |date=November 1958 |pmid=13623695 |doi= |url=}}</ref><ref name="pmid13591696">{{cite journal |vauthors=OLIVE BADOSA A |title=[Gamma globulin in immunological therapeutics: critical analysis] |language=Spanish; Castilian |journal=Rev Clin Esp |volume=69 |issue=6 |pages=361–4 |date=June 1958 |pmid=13591696 |doi= |url=}}</ref>
* [[Treatment Guidelines from The Medical Letter|Treatmen]]<nowiki/>t of various [[infectious]] [[diseases]] with the use of [[gamma globulins]] started during the late 1950's. [[Whooping cough]] was treated with [[placental]] [[immunoglobulin]] during the year 1959.<ref name="pmid13645155">{{cite journal |vauthors=LODODO KS, BAVAEVA SN |title=[Treatment of whooping cough with placental gamma-globulin] |language=Russian |journal=Pediatriia |volume=14 |issue=2 |pages=38–42 |date=February 1959 |pmid=13645155 |doi= |url=}}</ref><ref name="pmid13648484">{{cite journal |vauthors=SAXL O |title=[Treatment of severe infections with gamma globulin] |language=German |journal=Z Arztl Fortbild (Jena) |volume=52 |issue=24 |pages=1030–3 |date=December 1958 |pmid=13648484 |doi= |url=}}</ref>


==Classification==
==Classification==
{| class="wikitable"
{| class="wikitable"
|-
|-
! Type
! Type<ref name="pmid4162597">{{cite journal |vauthors=Claman HN, Hartley TF, Merrill D |title=Hypogammaglobulinemia, primary and secondary: immunoglobulin levels (gamma-G, gamma-A, gamma-M) in one hundred and twenty-five patients |journal=J Allergy |volume=38 |issue=4 |pages=215–25 |date=October 1966 |pmid=4162597 |doi= |url=}}</ref>
! [[OMIM]]
! [[OMIM]]<ref name="pmid2165880">{{cite journal |vauthors=Bryant A, Calver NC, Toubi E, Webster AD, Farrant J |title=Classification of patients with common variable immunodeficiency by B cell secretion of IgM and IgG in response to anti-IgM and interleukin-2 |journal=Clin. Immunol. Immunopathol. |volume=56 |issue=2 |pages=239–48 |date=August 1990 |pmid=2165880 |doi= |url=}}</ref>
! Gene
! Gene
|-
|-
Line 75: Line 65:


==Pathophysiology==
==Pathophysiology==
The exact pathogenesis of [disease name] is not fully understood.
*[[Hypogammaglobulinemia]] may result from lack of production, excessive loss of [[immunoglobulins]], or both.<ref name="pmid22820757">{{cite journal |vauthors=Artac H, Kara R, Gokturk B, Reisli I |title=Reduced CD19 expression and decreased memory B cell numbers in transient hypogammaglobulinemia of infancy |journal=Clin. Exp. Med. |volume=13 |issue=4 |pages=257–63 |date=November 2013 |pmid=22820757 |doi=10.1007/s10238-012-0200-y |url=}}</ref>


OR
* Congenital disorders affecting [[B cell|B-cell]] development can result in complete or partial absence of one or more Ig isotypes. <ref name="pmid17165264">{{cite journal |vauthors=Dorsey MJ, Orange JS |title=Impaired specific antibody response and increased B-cell population in transient hypogammaglobulinemia of infancy |journal=Ann. Allergy Asthma Immunol. |volume=97 |issue=5 |pages=590–5 |date=November 2006 |pmid=17165264 |doi=10.1016/S1081-1206(10)61085-X |url=}}</ref>
*The classic form of this type of disorder is [[Bruton agammaglobulinemia]], also known as [[X-linked agammaglobulinemia]] (XLA).


It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
* Because B, T, and [[Natural Killer T cell|natural killer]] (NK) cells share a common progenitor, defects occurring at early developmental stages may result in [[combined immunodeficiency]] involving all cell types, although defects further down the differentiation pathways may result in deficiencies of a single cell type only.


OR
*The symptoms depend on the type and severity of the Ig deficiency and the presence or deficiency of cellular immunity. In general, [[hypogammaglobulinemia]] results in recurrent [[infections]] with a restricted set of [[microorganisms]] primarily localized to the upper and lower airways, although [[bacteremia]] and [[GI]] [[infections]] can also occur. Patients with associated defects in cellular immunity usually present with [[Opportunistic infection|opportunistic]] [[viral]], [[fungal]], or [[parasitic infections]].
 
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
 
OR
 
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
 
OR
 
 
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
 
OR
 
The progression to [disease name] usually involves the [molecular pathway].
 
OR
 
The pathophysiology of [disease/malignancy] depends on the histological subtype.


==Causes==
==Causes==
[[Hypogammaglobulinemia]] is caused by:
[[Hypogammaglobulinemia]] is caused by:<ref name="pmid11202479">{{cite journal |vauthors=Sneller MC |title=Common variable immunodeficiency |journal=Am. J. Med. Sci. |volume=321 |issue=1 |pages=42–8 |date=January 2001 |pmid=11202479 |doi= |url=}}</ref><ref name="pmid10413651">{{cite journal |vauthors=Cunningham-Rundles C, Bodian C |title=Common variable immunodeficiency: clinical and immunological features of 248 patients |journal=Clin. Immunol. |volume=92 |issue=1 |pages=34–48 |date=July 1999 |pmid=10413651 |doi=10.1006/clim.1999.4725 |url=}}</ref><ref name="pmid12378199">{{cite journal |vauthors=Conley ME, Howard V |title=Clinical findings leading to the diagnosis of X-linked agammaglobulinemia |journal=J. Pediatr. |volume=141 |issue=4 |pages=566–71 |date=October 2002 |pmid=12378199 |doi=10.1067/mpd.2002.127711 |url=}}</ref><ref name="pmid12378199">{{cite journal |vauthors=Conley ME, Howard V |title=Clinical findings leading to the diagnosis of X-linked agammaglobulinemia |journal=J. Pediatr. |volume=141 |issue=4 |pages=566–71 |date=October 2002 |pmid=12378199 |doi=10.1067/mpd.2002.127711 |url=}}</ref><ref name="pmid15137474">{{cite journal |vauthors=Ciesielka D |title=Clinical evaluation and treatment of the adult patient with suspected primary immunodeficiency disease: a case analysis |journal=J Am Acad Nurse Pract |volume=16 |issue=4 |pages=158–65 |date=April 2004 |pmid=15137474 |doi= |url=}}</ref>


===Causes by Organ System===
{|
{|


|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Chemical / poisoning'''
| '''Primary or congenital B-cell disorders'''
| bgcolor="Beige" | [[Mesothelioma]]
| bgcolor="Beige" | [[X-linked agammaglobulinemia, common variable immunodeficiency, transient hypogammaglobulinemia of infancy, IgG subclass deficiency, severe combined immunodeficieny, Wiskott-Aldrich syndrome, ataxia-telanectasia]]
|-
|-
| style="width:25%" bgcolor="LightSteelBlue" ; border="1" | '''Cardiovascular'''
| style="width:25%" bgcolor="LightSteelBlue" ; border="1" | '''Cardiovascular'''
| style="width:75%" bgcolor="Beige" ; border="1" | No underlying causes
| style="width:75%" bgcolor="Beige" ; border="1" | No underlying causes
|-
|- bgcolor="LightSteelBlue"
| '''Chemical / poisoning'''
| bgcolor="Beige" | [[Mesothelioma]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
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|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
|'''Drugs'''
|'''Drugs'''
|bgcolor="Beige"|[[Cyclophosphamide]], [[Desmopressin]], [[Monoamine oxidase inhibitors]], [[Nicotine]], [[Oxytocin]], [[Pergolide]], [[Phenothiazines]], [[SSRI]]s, [[Tricyclic antidepressant|Tricyclic antidepressants]],[[Monoamine oxidase inhibitors]], [[Vasopressin]], [[Vinblastine]], [[Vincristine]], [[Bromocriptine]], [[Clofibrate]], [[Prostaglandins]], [[Melphalan]], [[Interferon-alpha]], [[Tacrolimus]], [[Diclofenac]], [[Ibuprofen]], [[Fentanyl]], [[Amiodarone]], [[Hydrochlorothiazide|Hydrochlorthiazide]], [[Clonidine]], [[Levodopa]], [[Rituximab]], [[Methylenedioxymethamphetamine]], Leveteiracetam, [[Quinolones]]
| bgcolor="Beige" | [[Gold]], [[D- penicillamine]], [[sulfasalazine]], [[anticonvulsants]], [[glucocorticoids]], [[ methotrexate]], [[calcineurin inhibitors]], [[rituximab]]
 
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Ear Nose Throat'''
| '''Ear Nose Throat'''
Line 134: Line 99:
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Endocrine'''
| '''Endocrine'''
| bgcolor="Beige" | [[Carcinoid]], [[Hypopituitarism]], [[Hypothyroidism]]
| bgcolor="Beige" | No underlying causes
|-  
|-  
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Environmental'''
| '''Environmental'''
| bgcolor="Beige" | [[Mesothelioma]]
| bgcolor="Beige" | [[Ionizing radiation]], [[toxins]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Gastroenterologic'''
| '''Gastroenterologic'''
| bgcolor="Beige" | [[Carcinoid]], [[Duodenal]] [[carcinoma]], [[Pancreatic cancer]]
| bgcolor="Beige" | [[Protein losing enteropathy]], [[intestinal lymphangiectasia]], [[cirrhosis]]
|-
|-
|- bgcolor="LightSteelBlue"
| '''Genetic'''
| bgcolor="Beige" | [[Agenesis corpus collosum]], [[Amyotropic lateral sclerosis]], [[Hydrocephalus]], Midline defects, [[Multiple sclerosis]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Hematologic'''
| '''Hematologic'''
| bgcolor="Beige" | [[Thymoma]], [[Acute intermittent porphyria]]
| bgcolor="Beige" | [[Thymoma]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Iatrogenic'''
| '''Iatrogenic'''
| bgcolor="Beige" | No underlying causes
| bgcolor="Beige" | Radiation
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Infectious Disease'''
| '''Infectious Disease'''
| bgcolor="Beige" | [[AIDS]], [[Bacterial pneumonia]], [[Brain abscess]], [[Encephalitis]], [[Lung abscess]], Lung [[cavitation]], [[Meningitis]], [[Tuberculosis]]
| bgcolor="Beige" |[[Herpes]], [[measles]], [[mycobacterial]], [[malaria]], [[helminthic infections]]  
|-
|-
|- bgcolor="LightSteelBlue"
| '''Musculoskeletal / Ortho'''
| bgcolor="Beige" | [[Amyotropic lateral sclerosis]], [[Ewing's sarcoma]], [[Polyradiculitis]]
|-
|-
|- bgcolor="LightSteelBlue"
 
| '''Neurologic'''
| bgcolor="Beige" | [[Agenesis corpus collosum]], [[Amyotropic lateral sclerosis]], [[Brain abscess]], [[Carcinoid]], [[Cavernous sinus thrombosis]], [[Delirium tremens]], [[Encephalitis]], [[Hydrocephalus]], [[Meningitis]], [[Multiple sclerosis]], [[Peripheral neuropathy]], [[Polyradiculitis]], [[Stroke]], [[Subarachnoid hemorrhage]], [[Subdural hemorrhage]], [[Guillain-Barre Syndrome]], [[Traumatic brain injury]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Nutritional / Metabolic'''
| '''Nutritional / Metabolic'''
| bgcolor="Beige" | No underlying causes
| bgcolor="Beige" | [[Protein energy malnutrition]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
Line 178: Line 135:
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Oncologic'''
| '''Oncologic'''
| bgcolor="Beige" | Bronchial adenoma, [[Carcinoid]], [[Duodenal]] [[carcinoma]], [[Ewing's sarcoma]], [[Lung cancer|Lung carcinoma]], [[Mesothelioma]], [[Ovarian cancer]], [[Pancreatic cancer]], [[Thymoma]]
| bgcolor="Beige" | [[Chronic lymphocytic leukemia]], [[multiple myeloma]], [[thymoma]]
|-
|- bgcolor="LightSteelBlue"
| '''Opthalmologic'''
| bgcolor="Beige" | No underlying causes
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Overdose / Toxicity'''
| '''Overdose / Toxicity'''
| bgcolor="Beige" | [[Delirium tremens]]
| bgcolor="Beige" |  
|-
|-
|- bgcolor="LightSteelBlue"
| '''Psychiatric'''
| bgcolor="Beige" | [[Phenothiazines]], [[Psychosis]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Pulmonary'''
| '''Pulmonary'''
| bgcolor="Beige" | [[Asthma]], [[Bacterial pneumonia]], Bronchial adenoma, [[Carcinoid]], [[Lung abscess]], [[Lung carcinoma]], Lung [[cavitation]], [[Mesothelioma]], [[Pneumothorax]], [[Tuberculosis]]
| bgcolor="Beige" | [[Bronchiectasis]]
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Renal / Electrolyte'''
| '''Renal / Electrolyte'''
| bgcolor="Beige" | No underlying causes
| bgcolor="Beige" | [[Nephrotic syndrome]], [[hemodialysis]]
|-
|-
|- bgcolor="LightSteelBlue"
 
| '''Rheum / Immune / Allergy'''
| bgcolor="Beige" | [[Asthma]]
|-
|-
|- bgcolor="LightSteelBlue"
 
| '''Sexual'''
| bgcolor="Beige" | No underlying causes
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Trauma'''
| '''Trauma'''
| bgcolor="Beige" | [[Pneumothorax]]
| bgcolor="Beige" |  
|-
|-
|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
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|- bgcolor="LightSteelBlue"
|- bgcolor="LightSteelBlue"
| '''Miscellaneous'''
| '''Miscellaneous'''
| bgcolor="Beige" | [[Positive pressure ventilation]], Transsphenoidal surgery , [[Polyarteritis Nodosa]]
| bgcolor="Beige" |
|}
|}


==Differentiating  Hypogammaglobulinemia from Other Diseases==
==Differentiating  Hypogammaglobulinemia from Other Diseases==


Hypogammaglobulinemia  must be differentiated from Bronchiectasis, complement deficiencies, and cysticfibrosis
[[Hypogammaglobulinemia]] must be differentiated from [[Bronchiectasis]], [[complement]] deficiencies, and [[cystic fibrosis]]<ref name="pmid8164701">{{cite journal |vauthors=Saffran DC, Parolini O, Fitch-Hilgenberg ME, Rawlings DJ, Afar DE, Witte ON, Conley ME |title=Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia |journal=N. Engl. J. Med. |volume=330 |issue=21 |pages=1488–91 |date=May 1994 |pmid=8164701 |doi=10.1056/NEJM199405263302104 |url=}}</ref><ref name="pmid7722175">{{cite journal |vauthors=Kornfeld SJ, Kratz J, Haire RN, Litman GW, Good RA |title=X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy |journal=J. Allergy Clin. Immunol. |volume=95 |issue=4 |pages=915–7 |date=April 1995 |pmid=7722175 |doi= |url=}}</ref><ref name="pmid8380905">{{cite journal |vauthors=Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M |title=The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases |journal=Nature |volume=361 |issue=6409 |pages=226–33 |date=January 1993 |pmid=8380905 |doi=10.1038/361226a0 |url=}}</ref><ref name="pmid1433695">{{cite journal |vauthors=Buckley RH |title=Immunodeficiency diseases |journal=JAMA |volume=268 |issue=20 |pages=2797–806 |date=November 1992 |pmid=1433695 |doi= |url=}}</ref>


==Differentiating C3 Glomerulopathy from other Diseases==
{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align="center"
{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align="center"
|  
|  
Line 235: Line 180:
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Complement deficiencies]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Complement deficiencies]]
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* Persistent glomerulonephritis over prolonged period
* Caused by a genetic defect in one of the genes that code for different complement proteins
* Decreased C3 levels persist
*Constitute about 7-9% of primary immunodeficiencies
* Immunofluorescence microscopy shows intense C3 staining without immunoglobulin staining.
*Deficiency of C1q, C2, C4 tend to be linked with autoimmune diseases.
*C5-C9 deficiency more prone to meningococcal disease.
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;"|[[Bronchiectasis]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Bronchiectasis]]
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
* Anti C1q autoantibodies
* Secondary to an infectious process resulting in distortion of conducting bronchi
* Immune complex glomerulonephritis
*Copious mucopurulent sputum production lasting for months to years
* Glomerular deposits of IgG, IgM, IgA, C3 and C1q
*Hemoptysis
*
*Dyspnea, pleuritic chest pain, wheezing, fever, weight loss
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Cystic fibrosis]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Cystic fibrosis]]
Line 261: Line 207:


==Epidemiology and Demographics==
==Epidemiology and Demographics==
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
*The [[incidence]] of primary [[immunodeficiency]] is approximately 10 per 100,000 individuals worldwide.<ref name="pmid19067916">{{cite journal |vauthors=Robertson J, Elidemir O, Saz EU, Gulen F, Schecter M, McKenzie E, Heinle J, Smith E, Mallory G |title=Hypogammaglobulinemia: Incidence, risk factors, and outcomes following pediatric lung transplantation |journal=Pediatr Transplant |volume=13 |issue=6 |pages=754–9 |date=September 2009 |pmid=19067916 |doi=10.1111/j.1399-3046.2008.01067.x |url=}}</ref><ref name="pmid23276889">{{cite journal |vauthors=Casulo C, Maragulia J, Zelenetz AD |title=Incidence of hypogammaglobulinemia in patients receiving rituximab and the use of intravenous immunoglobulin for recurrent infections |journal=Clin Lymphoma Myeloma Leuk |volume=13 |issue=2 |pages=106–11 |date=April 2013 |pmid=23276889 |pmc=4035033 |doi=10.1016/j.clml.2012.11.011 |url=}}</ref>
 
* In children primary immunodeficiencies are more common in boys than in girls. [[Male]] to [[female]] [[ratio]] being 5:1
OR
* There is no racial predilection to [[hypogammaglobulinemia]]
 
* Hypogammaglobulinemia affects [[men]] and [[Women For Sobriety|women]] equally
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
 
OR
 
In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
 
 
 
Patients of all age groups may develop [disease name].
 
OR
 
The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
 
OR
 
[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
 
OR
 
[Chronic disease name] is usually first diagnosed among [age group].
 
OR
 
[Acute disease name] commonly affects [age group].
 
 
 
There is no racial predilection to [disease name].
 
OR
 
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
 
 
 
[Disease name] affects men and women equally.
 
OR
 
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
 
 
 
The majority of [disease name] cases are reported in [geographical region].
 
OR
 
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].


==Risk Factors==
==Risk Factors==
There are no established risk factors for [disease name].


OR
Common [[Risk-free interest rate|risk]] [[Factors 2a|factors]] in the development of [[hypogammaglobulinemia]] include:<ref name="pmid19067916">{{cite journal |vauthors=Robertson J, Elidemir O, Saz EU, Gulen F, Schecter M, McKenzie E, Heinle J, Smith E, Mallory G |title=Hypogammaglobulinemia: Incidence, risk factors, and outcomes following pediatric lung transplantation |journal=Pediatr Transplant |volume=13 |issue=6 |pages=754–9 |date=September 2009 |pmid=19067916 |doi=10.1111/j.1399-3046.2008.01067.x |url=}}</ref>


The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
* [[Family]] [[History and Physical examination|history]] of a primary [[immune deficiency]] disorder
 
* [[Medical]] [[therapy]] with [[drugs]] such as
OR
** [[Rituximab]]<ref name="pmid28800262">{{cite journal |vauthors=Christou EAA, Giardino G, Worth A, Ladomenou F |title=Risk factors predisposing to the development of hypogammaglobulinemia and infections post-Rituximab |journal=Int. Rev. Immunol. |volume=36 |issue=6 |pages=352–359 |date=November 2017 |pmid=28800262 |doi=10.1080/08830185.2017.1346092 |url=}}</ref>
 
**[[Glucocorticoids]]
Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
**[[Gold]]
 
**[[Penicillamine]]
OR
* [[Bruton's agammaglobulinemia]]<ref name="pmid28846295">{{cite journal |vauthors=Taneja A, Chhabra A |title= |journal= |volume= |issue= |pages= |date= |pmid=28846295 |doi= |url=}}</ref>
 
Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.


==Screening==
==Screening==
There is insufficient evidence to recommend routine screening for [disease/malignancy].
There is insufficient evidence to recommend routine [[screening]] for [[hypogammaglobulinemia]].
 
OR
 
According to the [guideline name], screening for [disease name] is not recommended.
 
OR
 
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].


==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].


OR
Common [[complications]] of  [[hypogammaglobulinemia]] include:<ref name="pmid25931291">{{cite journal |vauthors=Parikh SA, Leis JF, Chaffee KG, Call TG, Hanson CA, Ding W, Chanan-Khan AA, Bowen D, Conte M, Schwager S, Slager SL, Van Dyke DL, Jelinek DF, Kay NE, Shanafelt TD |title=Hypogammaglobulinemia in newly diagnosed chronic lymphocytic leukemia: Natural history, clinical correlates, and outcomes |journal=Cancer |volume=121 |issue=17 |pages=2883–91 |date=September 2015 |pmid=25931291 |pmc=4545721 |doi=10.1002/cncr.29438 |url=}}</ref>


Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
* Recurrent [[infections]]
 
*[[Growth retardation]] (in children)
OR
*[[Autoimmune disorders]]
 
*Increased risk of [[cancer]]
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
* [[Death]] due to serious [[infections]]


==Diagnosis==
==Diagnosis==
===Diagnostic Study of Choice===
===Diagnostic Study of Choice===
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
There is no established diagnostic study of choice for the diagnosis of [[hypogammaglobulinemia]].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
There are no established criteria for the diagnosis of [disease name].


===History and Symptoms===
===History and Symptoms===
The majority of patients with [disease name] are asymptomatic.
A clinical history of the following may be present:<ref name="pmid11192522">{{cite journal |vauthors=Kiliç SS, Tezcan I, Sanal O, Metin A, Ersoy F |title=Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases |journal=Pediatr Int |volume=42 |issue=6 |pages=647–50 |date=December 2000 |pmid=11192522 |doi= |url=}}</ref>
* [[Granulomatous]] disease, [[enteropathy]] ([[celiac]]-like/inflammatory), and autoimmune [[cytopenia]] may suggest [[common variable immunodeficiency]] (CVID).
* [[Infections]] in infancy (especially ''[[Pneumocystis jirovecii]]'', [[respiratory syncytial virus]], ''[[Candida]]'', and [[bacteria]])
* [[X-linked agammaglobulinemia]] (XLA/[[Bruton disease]])
* Transient [[hypogammaglobulinemia]] of infancy
* [[Celiac disease]]
* [[Thymoma]]


OR
* Recurrent infections


The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
* Secondary causes such as [[nephrotic syndrome]], [[malabsorption]]/gastroenteropathy (e.g., intestinal [[lymphangiectasia]]), [[myeloma]], [[leukemia]], [[lymphoma]], or [[malnutrition]]
* Medication history may reveal use of [[rituximab]], [[carbamazepine]], [[phenytoin]], disease-modifying antirheumatic drugs, [[cytotoxic drugs]], or [[immunosuppressive drugs]]).
* History of [[radiation therapy]]
Symptoms may include
* Failure to thrive in children
* Recurrent [[infections]]
* [[Shortness of breath]]
* [[Chronic cough]] from [[bronchiectasis]]
* [[Sinus]] pain and nasal discharge
* [[Diarrhea]] or [[steatorrhea]]
* Complications after receiving live [[vaccines]]


===Physical Examination===
===Physical Examination===
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].


OR
Common [[Physical Culture|physical]] [[examination]] [[Findings on urinalysis|findings]] of [[hypogammaglobulinemia]] include :<ref name="pmid30216434">{{cite journal |vauthors=Zaman M, Huissoon A, Buckland M, Patel S, Alachkar H, Edgar JD, Thomas M, Arumugakani G, Baxendale H, Burns S, Williams AP, Jolles S, Herriot R, Sargur RB, Arkwright PD |title=Clinical & laboratory features of seventy-eight UK patients with Good's syndrome (thymoma & hypogammaglobulinemia) |journal=Clin. Exp. Immunol. |volume= |issue= |pages= |date=September 2018 |pmid=30216434 |doi=10.1111/cei.13216 |url=}}</ref>


Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
* [[Growth retardation]]
 
*Paucity of [[Tonsillar Disease|tonsillar]] tissue
OR
*Skin: rash, [[livedo reticularis]]
 
*[[Splenomegaly MRI|Splenomegaly]] or [[hypersplenism]] in [[patients]] with [[common variable immunodeficiency]]
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
*[[Pulmonary]]: [[Rales]], [[rhonchi]] and [[wheezing]]
 
* [[Cardiovascular]] [[examination]]: Chronic [[respiratory insufficiency]] can result in [[Pulmonary hypertension CT|pulmonary hypertension]] and [[right heart failure]].
OR
* Extremities: [[Digital clubbing]]
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].


===Laboratory Findings===
===Laboratory Findings===
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
Laboratory studies that may be helpful include the following:<ref name="pmid30216434">{{cite journal |vauthors=Zaman M, Huissoon A, Buckland M, Patel S, Alachkar H, Edgar JD, Thomas M, Arumugakani G, Baxendale H, Burns S, Williams AP, Jolles S, Herriot R, Sargur RB, Arkwright PD |title=Clinical & laboratory features of seventy-eight UK patients with Good's syndrome (thymoma & hypogammaglobulinemia) |journal=Clin. Exp. Immunol. |volume= |issue= |pages= |date=September 2018 |pmid=30216434 |doi=10.1111/cei.13216 |url=}}</ref>


OR
*Serum [[immunoglobulin]]<ref name="pmid27250108">{{cite journal |vauthors=Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F |title=Genes associated with common variable immunodeficiency: one diagnosis to rule them all? |journal=J. Med. Genet. |volume=53 |issue=9 |pages=575–90 |date=September 2016 |pmid=27250108 |doi=10.1136/jmedgenet-2015-103690 |url=}}</ref>


Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
*Antibody response after [[immunization]]


OR
*Isohemagglutinins


[Test] is usually normal among patients with [disease name].
*Peripheral blood [[lymphocyte]] [[immunophenotyping]]<ref name="pmid2977623">{{cite journal |vauthors=Clerici M, Villa ML, Mantovani M, Rugarli C |title=NK cell activity and monocyte dysfunctions in a patient with common variable hypogammaglobulinemia |journal=J Clin Lab Immunol |volume=27 |issue=3 |pages=143–7 |date=November 1988 |pmid=2977623 |doi= |url=}}</ref>


OR
*Evaluation of [[cellular immunity]] ([[cutaneous]] delayed-type hypersensitivity)


Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
*[[Complete blood count]]


OR
*Renal studies


There are no diagnostic laboratory findings associated with [disease name].
*[[GI]] studies (eg, alpha1-antitrypsin)


===Electrocardiogram===
===Electrocardiogram===
There are no ECG findings associated with [disease name].
There are no [[ECG]] [[Findings on urinalysis|findings]] associated with [[hypogammaglobulinemia]].
 
OR
 
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


===X-ray===
===X-ray===
There are no x-ray findings associated with [disease name].
A chest x-ray may be helpful in the diagnosis of [[hypogammaglobulinemia]]. Findings on an x-ray may be suggestive of<ref name="pmid9651432">{{cite journal |vauthors=Buckley CR |title=Agammaglobulinemia, by Col. Ogden C. Bruton, MC, USA, Pediatrics, 1952;9:722-728 |journal=Pediatrics |volume=102 |issue=1 Pt 2 |pages=213–5 |date=July 1998 |pmid=9651432 |doi= |url=}}</ref>
 
* [[Bronchiectasis]]  
OR
* [[Atelectasis]]
 
* Lung [[cysts]]
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
* [[Mediastinal lymphadenopathy]]
 
* Features of [[opportunistic infection]] e.g., ''P jiroveci'' [[pneumonia]], [[aspergillus]] infection and [[aspergilloma]]
OR
 
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound  findings associated with [disease name].
There are no echocardiography/ultrasound  findings associated with hypogammaglobulinemia.  
 
OR
 
Echocardiography/ultrasound  may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no echocardiography/ultrasound  findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===CT scan===
===CT scan===
There are no CT scan findings associated with [disease name].
HRCT may show bronchial wall thickening, features of bronchiectasis, lobar and/or segmental collapse, scars, interstitial lesions and lobular air-trapping. <ref name="pmid9135465">{{cite journal |vauthors=Feydy A, Sibilia J, De Kerviler E, Zagdanski AM, Chevret S, Fermand JP, Brouet JC, Frija J |title=Chest high resolution CT in adults with primary humoral immunodeficiency |journal=Br J Radiol |volume=69 |issue=828 |pages=1108–16 |date=December 1996 |pmid=9135465 |doi=10.1259/0007-1285-69-828-1108 |url=}}</ref>
 
OR
 
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===MRI===
===MRI===
There are no MRI findings associated with [disease name].
There are no MRI findings associated with [[hypogammaglobulinemia]]
 
OR
 
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===Other Imaging Findings===
===Other Imaging Findings===
There are no other imaging findings associated with [disease name].
There are no other imaging findings associated with [[hypogammaglobulinemia]]
 
OR
 
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


===Other Diagnostic Studies===
===Other Diagnostic Studies===
There are no other diagnostic studies associated with [disease name].
Other diagnostic studies for [[hypogammaglobulinemia]] include [[flow cytometry]] which demonstrates low levels of circulating memory [[B cells]]. Molecular analysis may also be used in some cases.
 
OR
 
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].


==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
Immune globulin therapy is the mainstay of treatment for a variety of primary immunodeficiency states. American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly established the "Practice parameter for the diagnosis and management of primary immunodeficiency."  <ref name="pmid26371839">{{cite journal |vauthors=Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, Nelson RP, Orange JS, Routes JM, Shearer WT, Sorensen RU, Verbsky JW, Bernstein DI, Blessing-Moore J, Lang D, Nicklas RA, Oppenheimer J, Portnoy JM, Randolph CR, Schuller D, Spector SL, Tilles S, Wallace D |title=Practice parameter for the diagnosis and management of primary immunodeficiency |journal=J. Allergy Clin. Immunol. |volume=136 |issue=5 |pages=1186–205.e1–78 |date=November 2015 |pmid=26371839 |doi=10.1016/j.jaci.2015.04.049 |url=}}</ref>
 
OR
 
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
 
OR
 
The majority of cases of [disease name] are self-limited and require only supportive care.
 
OR
 
[Disease name] is a medical emergency and requires prompt treatment.
 
OR
 
The mainstay of treatment for [disease name] is [therapy].
 
OR
 
The optimal therapy for [malignancy name] depends on the stage at diagnosis.
 
OR
 
[Therapy] is recommended among all patients who develop [disease name].
 
OR
 
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
 
OR
 
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
 
OR
 
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
 
OR
 
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].


===Surgery===
===Surgery===
Surgical intervention is not recommended for the management of [disease name].
Surgical intervention is not recommended for the management of [[hypogammaglobulinemia]]
 
OR
 
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
 
OR
 
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
 
OR
 
The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
 
OR
 
Surgery is the mainstay of treatment for [disease or malignancy].


===Primary Prevention===
===Primary Prevention===
There are no established measures for the primary prevention of [disease name].
There are no established measures for the [[Primary & secondary sacroiliac joint disorders|primary]] [[Prevention (medical)|prevention]] of [[hypogammaglobulinemia]]
 
OR
 
There are no available vaccines against [disease name].
 
OR
 
Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
 
OR
 
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].


===Secondary Prevention===
===Secondary Prevention===
There are no established measures for the secondary prevention of [disease name].
There are no established measures for the secondary prevention of [[hypogammaglobulinemia]]. [[Antibiotic|Antibiotics]] and [[Anti inflammatory medications|anti-inflammatory medications]] can help.  
 
OR
 
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].


==References==
==References==

Latest revision as of 18:22, 21 January 2019

Hypogammaglobulinemia
ICD-10 D80.0-D80.1
ICD-9 279.00
DiseasesDB 6426
MedlinePlus 001307
eMedicine med/1120  ped/54
MeSH D000361

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Shyam Patel [2] Associate Editor(s)-in-Chief: Omer Kamal, M.D.[3] Vindhya BellamKonda, M.B.B.S [4]

Synonyms and keywords:

Overview

Hypogammaglobulinemia is a type of primary immune deficiency disease. "Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "X-linked agammaglobulinemia") it implies that gamma globulins are not merely reduced, but completely absent. Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias,but the distinction is not usually clinically relevant. "Hypogammaglobulinemia" is distinguished from dysgammaglobulinemia, which is a reduction in some types of gamma globulins, but not others.

Historical Perspective

  • Dr. Robert A Good and March of dimes foundation maintained a close association for a quarter century in the fight against immunodeficiency diseases.[1]

Classification

Type[8] OMIM[9] Gene
AGM1 601495 IGHM
AGM2 613500 IGLL1
AGM3 613501 CD79A
AGM4 613502 BLNK
AGM5 613506 LRRC8A
AGM6 612692 CD79B

Pathophysiology

  • Because B, T, and natural killer (NK) cells share a common progenitor, defects occurring at early developmental stages may result in combined immunodeficiency involving all cell types, although defects further down the differentiation pathways may result in deficiencies of a single cell type only.

Causes

Hypogammaglobulinemia is caused by:[12][13][14][14][15]

Primary or congenital B-cell disorders X-linked agammaglobulinemia, common variable immunodeficiency, transient hypogammaglobulinemia of infancy, IgG subclass deficiency, severe combined immunodeficieny, Wiskott-Aldrich syndrome, ataxia-telanectasia
Cardiovascular No underlying causes
Dermatologic No underlying causes
Drugs Gold, D- penicillamine, sulfasalazine, anticonvulsants, glucocorticoids, methotrexate, calcineurin inhibitors, rituximab
Ear Nose Throat No underlying causes
Endocrine No underlying causes
Environmental Ionizing radiation, toxins
Gastroenterologic Protein losing enteropathy, intestinal lymphangiectasia, cirrhosis
Hematologic Thymoma
Iatrogenic Radiation
Infectious Disease Herpes, measles, mycobacterial, malaria, helminthic infections
Nutritional / Metabolic Protein energy malnutrition
Obstetric/Gynecologic Ovarian cancer
Oncologic Chronic lymphocytic leukemia, multiple myeloma, thymoma
Overdose / Toxicity
Pulmonary Bronchiectasis
Renal / Electrolyte Nephrotic syndrome, hemodialysis
Trauma
Urologic No underlying causes
Miscellaneous

Differentiating Hypogammaglobulinemia from Other Diseases

Hypogammaglobulinemia must be differentiated from Bronchiectasis, complement deficiencies, and cystic fibrosis[16][17][18][19]

Medical condition Characteristic features
Complement deficiencies
  • Caused by a genetic defect in one of the genes that code for different complement proteins
  • Constitute about 7-9% of primary immunodeficiencies
  • Deficiency of C1q, C2, C4 tend to be linked with autoimmune diseases.
  • C5-C9 deficiency more prone to meningococcal disease.
Bronchiectasis
  • Secondary to an infectious process resulting in distortion of conducting bronchi
  • Copious mucopurulent sputum production lasting for months to years
  • Hemoptysis
  • Dyspnea, pleuritic chest pain, wheezing, fever, weight loss
Cystic fibrosis
  • Glomeruonephritis in most cases resolves after infection subsides
  • Decreased levels of C3 is transient
  • Immunoflouroescence microscopy shows immunoglobulin deposition in poststreptococcal infection
Staphylococcal associated glomerulonephritis
  • Glomerulonephritis resolves after infection subsides
  • Decreased C3 is transient
  • Immunofluorescence microscopy shows immunoglobulin deposition in staphylococcal associated glomerulonephritis.

Epidemiology and Demographics

Risk Factors

Common risk factors in the development of hypogammaglobulinemia include:[20]

Screening

There is insufficient evidence to recommend routine screening for hypogammaglobulinemia.

Natural History, Complications, and Prognosis

Common complications of hypogammaglobulinemia include:[24]

Diagnosis

Diagnostic Study of Choice

There is no established diagnostic study of choice for the diagnosis of hypogammaglobulinemia.

History and Symptoms

A clinical history of the following may be present:[25]

  • Recurrent infections

Symptoms may include

Physical Examination

Common physical examination findings of hypogammaglobulinemia include :[26]

Laboratory Findings

Laboratory studies that may be helpful include the following:[26]

  • Isohemagglutinins
  • Renal studies
  • GI studies (eg, alpha1-antitrypsin)

Electrocardiogram

There are no ECG findings associated with hypogammaglobulinemia.

X-ray

A chest x-ray may be helpful in the diagnosis of hypogammaglobulinemia. Findings on an x-ray may be suggestive of[29]

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with hypogammaglobulinemia.

CT scan

HRCT may show bronchial wall thickening, features of bronchiectasis, lobar and/or segmental collapse, scars, interstitial lesions and lobular air-trapping. [30]

MRI

There are no MRI findings associated with hypogammaglobulinemia

Other Imaging Findings

There are no other imaging findings associated with hypogammaglobulinemia

Other Diagnostic Studies

Other diagnostic studies for hypogammaglobulinemia include flow cytometry which demonstrates low levels of circulating memory B cells. Molecular analysis may also be used in some cases.

Treatment

Medical Therapy

Immune globulin therapy is the mainstay of treatment for a variety of primary immunodeficiency states. American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly established the "Practice parameter for the diagnosis and management of primary immunodeficiency." [31]

Surgery

Surgical intervention is not recommended for the management of hypogammaglobulinemia

Primary Prevention

There are no established measures for the primary prevention of hypogammaglobulinemia

Secondary Prevention

There are no established measures for the secondary prevention of hypogammaglobulinemia. Antibiotics and anti-inflammatory medications can help.

References

  1. ↑ Rose DW (2007). "Robert A. Good, the March of Dimes, and immunodeficiency: an historical perspective". Immunol. Res. 38 (1–3): 51–4. PMID 17917009.
  2. ↑ Stiehm ER (January 1993). "New and old immunodeficiencies". Pediatr. Res. 33 (1 Suppl): S2–7, discussion S7–8. doi:10.1203/00006450-199305001-00007. PMID 8433870.
  3. ↑ "USE OF immune globulins for the treatment of agammaglobulinemia or hypogammaglobulinemia". J Am Med Assoc. 162 (2): 117. September 1956. PMID 13357304.
  4. ↑ SOULIER JP, BADILLET M, HERZOG F (November 1958). "[Therapeutic results in the use of human serum gamma globulins; survey of 6, 602 cases. I. Main indications for their use in infections diseases]". Presse Med (in French). 66 (84): 1881–4. PMID 13623695.
  5. ↑ OLIVE BADOSA A (June 1958). "[Gamma globulin in immunological therapeutics: critical analysis]". Rev Clin Esp (in Spanish; Castilian). 69 (6): 361–4. PMID 13591696.
  6. ↑ LODODO KS, BAVAEVA SN (February 1959). "[Treatment of whooping cough with placental gamma-globulin]". Pediatriia (in Russian). 14 (2): 38–42. PMID 13645155.
  7. ↑ SAXL O (December 1958). "[Treatment of severe infections with gamma globulin]". Z Arztl Fortbild (Jena) (in German). 52 (24): 1030–3. PMID 13648484.
  8. ↑ Claman HN, Hartley TF, Merrill D (October 1966). "Hypogammaglobulinemia, primary and secondary: immunoglobulin levels (gamma-G, gamma-A, gamma-M) in one hundred and twenty-five patients". J Allergy. 38 (4): 215–25. PMID 4162597.
  9. ↑ Bryant A, Calver NC, Toubi E, Webster AD, Farrant J (August 1990). "Classification of patients with common variable immunodeficiency by B cell secretion of IgM and IgG in response to anti-IgM and interleukin-2". Clin. Immunol. Immunopathol. 56 (2): 239–48. PMID 2165880.
  10. ↑ Artac H, Kara R, Gokturk B, Reisli I (November 2013). "Reduced CD19 expression and decreased memory B cell numbers in transient hypogammaglobulinemia of infancy". Clin. Exp. Med. 13 (4): 257–63. doi:10.1007/s10238-012-0200-y. PMID 22820757.
  11. ↑ Dorsey MJ, Orange JS (November 2006). "Impaired specific antibody response and increased B-cell population in transient hypogammaglobulinemia of infancy". Ann. Allergy Asthma Immunol. 97 (5): 590–5. doi:10.1016/S1081-1206(10)61085-X. PMID 17165264.
  12. ↑ Sneller MC (January 2001). "Common variable immunodeficiency". Am. J. Med. Sci. 321 (1): 42–8. PMID 11202479.
  13. ↑ Cunningham-Rundles C, Bodian C (July 1999). "Common variable immunodeficiency: clinical and immunological features of 248 patients". Clin. Immunol. 92 (1): 34–48. doi:10.1006/clim.1999.4725. PMID 10413651.
  14. ↑ 14.0 14.1 Conley ME, Howard V (October 2002). "Clinical findings leading to the diagnosis of X-linked agammaglobulinemia". J. Pediatr. 141 (4): 566–71. doi:10.1067/mpd.2002.127711. PMID 12378199.
  15. ↑ Ciesielka D (April 2004). "Clinical evaluation and treatment of the adult patient with suspected primary immunodeficiency disease: a case analysis". J Am Acad Nurse Pract. 16 (4): 158–65. PMID 15137474.
  16. ↑ Saffran DC, Parolini O, Fitch-Hilgenberg ME, Rawlings DJ, Afar DE, Witte ON, Conley ME (May 1994). "Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia". N. Engl. J. Med. 330 (21): 1488–91. doi:10.1056/NEJM199405263302104. PMID 8164701.
  17. ↑ Kornfeld SJ, Kratz J, Haire RN, Litman GW, Good RA (April 1995). "X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy". J. Allergy Clin. Immunol. 95 (4): 915–7. PMID 7722175.
  18. ↑ Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M (January 1993). "The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases". Nature. 361 (6409): 226–33. doi:10.1038/361226a0. PMID 8380905.
  19. ↑ Buckley RH (November 1992). "Immunodeficiency diseases". JAMA. 268 (20): 2797–806. PMID 1433695.
  20. ↑ 20.0 20.1 Robertson J, Elidemir O, Saz EU, Gulen F, Schecter M, McKenzie E, Heinle J, Smith E, Mallory G (September 2009). "Hypogammaglobulinemia: Incidence, risk factors, and outcomes following pediatric lung transplantation". Pediatr Transplant. 13 (6): 754–9. doi:10.1111/j.1399-3046.2008.01067.x. PMID 19067916.
  21. ↑ Casulo C, Maragulia J, Zelenetz AD (April 2013). "Incidence of hypogammaglobulinemia in patients receiving rituximab and the use of intravenous immunoglobulin for recurrent infections". Clin Lymphoma Myeloma Leuk. 13 (2): 106–11. doi:10.1016/j.clml.2012.11.011. PMC 4035033. PMID 23276889.
  22. ↑ Christou E, Giardino G, Worth A, Ladomenou F (November 2017). "Risk factors predisposing to the development of hypogammaglobulinemia and infections post-Rituximab". Int. Rev. Immunol. 36 (6): 352–359. doi:10.1080/08830185.2017.1346092. PMID 28800262. Vancouver style error: initials (help)
  23. ↑ Taneja A, Chhabra A. PMID 28846295. Missing or empty |title= (help)
  24. ↑ Parikh SA, Leis JF, Chaffee KG, Call TG, Hanson CA, Ding W, Chanan-Khan AA, Bowen D, Conte M, Schwager S, Slager SL, Van Dyke DL, Jelinek DF, Kay NE, Shanafelt TD (September 2015). "Hypogammaglobulinemia in newly diagnosed chronic lymphocytic leukemia: Natural history, clinical correlates, and outcomes". Cancer. 121 (17): 2883–91. doi:10.1002/cncr.29438. PMC 4545721. PMID 25931291.
  25. ↑ Kiliç SS, Tezcan I, Sanal O, Metin A, Ersoy F (December 2000). "Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases". Pediatr Int. 42 (6): 647–50. PMID 11192522.
  26. ↑ 26.0 26.1 Zaman M, Huissoon A, Buckland M, Patel S, Alachkar H, Edgar JD, Thomas M, Arumugakani G, Baxendale H, Burns S, Williams AP, Jolles S, Herriot R, Sargur RB, Arkwright PD (September 2018). "Clinical & laboratory features of seventy-eight UK patients with Good's syndrome (thymoma & hypogammaglobulinemia)". Clin. Exp. Immunol. doi:10.1111/cei.13216. PMID 30216434.
  27. ↑ Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F (September 2016). "Genes associated with common variable immunodeficiency: one diagnosis to rule them all?". J. Med. Genet. 53 (9): 575–90. doi:10.1136/jmedgenet-2015-103690. PMID 27250108.
  28. ↑ Clerici M, Villa ML, Mantovani M, Rugarli C (November 1988). "NK cell activity and monocyte dysfunctions in a patient with common variable hypogammaglobulinemia". J Clin Lab Immunol. 27 (3): 143–7. PMID 2977623.
  29. ↑ Buckley CR (July 1998). "Agammaglobulinemia, by Col. Ogden C. Bruton, MC, USA, Pediatrics, 1952;9:722-728". Pediatrics. 102 (1 Pt 2): 213–5. PMID 9651432.
  30. ↑ Feydy A, Sibilia J, De Kerviler E, Zagdanski AM, Chevret S, Fermand JP, Brouet JC, Frija J (December 1996). "Chest high resolution CT in adults with primary humoral immunodeficiency". Br J Radiol. 69 (828): 1108–16. doi:10.1259/0007-1285-69-828-1108. PMID 9135465.
  31. ↑ Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, Nelson RP, Orange JS, Routes JM, Shearer WT, Sorensen RU, Verbsky JW, Bernstein DI, Blessing-Moore J, Lang D, Nicklas RA, Oppenheimer J, Portnoy JM, Randolph CR, Schuller D, Spector SL, Tilles S, Wallace D (November 2015). "Practice parameter for the diagnosis and management of primary immunodeficiency". J. Allergy Clin. Immunol. 136 (5): 1186–205.e1–78. doi:10.1016/j.jaci.2015.04.049. PMID 26371839.


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