Hypogammaglobulinemia

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]; Associate Editor(s)-in-Chief: Vindhya BellamKonda, M.B.B.S [2]

Synonyms and keywords:

Overview

Hypogammaglobulinemia is a type of primary immune deficiency disease.

Hypogammaglobulinemia is a characteristic of common variable immunodeficiency. "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

[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].

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 -----.

In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].

Classification

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

Pathophysiology

The exact pathogenesis of [disease name] is not fully understood.

OR

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].

OR

[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

Hypogammaglobulinemia is caused by:

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 cysticfibrosis Differentiating C3 Glomerulopathy from other Diseases Medical condition Characteristic features Complement deficiencies oscopy shows intense C3 staining without immunoglobulin staining. 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 Anti C1q autoantibodies Immune complex glomerulonephritis Glomerular deposits of IgG, IgM, IgA, C3 and C1q 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 The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide. OR 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 There are no established risk factors for [disease name]. OR 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]. OR Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4]. OR Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral. Screening There is insufficient evidence to recommend routine screening for [disease/malignancy]. 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 If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3]. OR Common complications of [disease name] include [complication 1], [complication 2], and [complication 3]. OR Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%. Diagnosis 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]. 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 The majority of patients with [disease name] are asymptomatic. OR 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]. Physical Examination Common physical examination findings of hypogammaglobulinemia include : Growth retardation Paucity of tonsillar tissue Skin: rash, livedo reticularis Splenomegaly or hypersplenism in patients with common variable immunodeficiency. Pulmonary: Rales, rhonchi and wheezing Cardiovascular examination: Chronic respiratory insufficiency can result in pulmonary hypertension and right heart failure. Extremities: Digital clubbing Laboratory Findings An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name]. OR Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3]. OR [Test] is usually normal among patients with [disease name]. OR Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication]. OR There are no diagnostic laboratory findings associated with [disease name]. Electrocardiogram There are no ECG findings associated with [disease name]. 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 There are no x-ray findings associated with [disease name]. OR 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]. 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 There are no echocardiography/ultrasound findings associated with [disease name]. 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 There are no CT scan findings associated with [disease name]. 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 There are no MRI findings associated with [disease name]. 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 There are no other imaging findings associated with [disease name]. 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 There are no other diagnostic studies associated with [disease name]. 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 Medical Therapy There is no treatment for [disease name]; the mainstay of therapy is supportive care. 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 Surgical intervention is not recommended for the management of [disease name]. 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 There are no established measures for the primary prevention of [disease name]. 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 There are no established measures for the secondary prevention of [disease name]. OR Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3]. References Template:WikiDoc Sources