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] Omer Kamal, M.D.[3]

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.

• 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.
• Use of immunoglobulins for the treatment of hypogammaglobulinemia was practised as early as 1950's.
• Therapeutic results in the use of human serum gamma globulins have been published during the late 1950's.
• Treatment 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.

Classification

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

Pathophysiology

• Hypogammaglobulinemia may result from lack of production, excessive loss of immunoglobulins, or both.

• Congenital disorders affecting B-cell development can result in complete or partial absence of one or more Ig isotypes.
• The classic form of this type of disorder is Bruton agammaglobulinemia, also known as X-linked agammaglobulinemia (XLA).

• 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.

• 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 viral, fungal, or parasitic infections.

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 cystic fibrosis

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

• The incidence of primary immunodeficiency is approximately 10 per 100,000 individuals worldwide.
• In children primary immunodeficiencies are more common in boys than in girls. Male to female ratio being 5:1.
• There is no racial predilection to Hypogammaglobulinemia
• Hypogammaglobulinemia affects men and women equally

Risk Factors

Common risk factors in the development of hypogammaglobulinemia include:

• Family history of a primary immune deficiency disorder
• Medical therapy with drugs such as
  • Rituximab
  • Glucocorticoids
  • Gold
  • Penicillamine
• Bruton's agammaglobulinemia

Screening

There is insufficient evidence to recommend routine screening for hypogammaglobulinemia.

Natural History, Complications, and Prognosis

Common complications of hypogammaglobulinemia include:

• Recurrent infections
• Growth retardation( in children)
• Autoimmune disorders
• Increased risk of cancer
• Death due to serious infections

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

• Laboratory studies that may be helpful include the following:

• Serum immunoglobulin

• Antibody response after immunization

• Isohemagglutinins

• Peripheral blood lymphocyte immunophenotyping

• Evaluation of cellular immunity (cutaneous delayed-type hypersensitivity)

• Complete blood count

• Renal studies

• GI studies (eg, alpha1 -antitrypsin)

Electrocardiogram

There are no ECG findings associated with hypogammaglobulinemia.

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 hypogammaglobulinemia

Secondary Prevention

There are no established measures for the secondary prevention of hypogammaglobulinemia.

References

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