Selective immunoglobulin A deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Muhammad Affan M.D.[2]

Synonyms and Keywords: : Selective IgA deficiency, SIgAD

Overview

Selective Immunoglobulin A deficiency (SIgAD) is the most common primary immunodeficiency and is defined as "serum level of IgA equal or below 7mg/dl in the presence of normal level of other immunoglobulins in individuals older than four years of age and in which other causes of hypogammaglobulinemia have been excluded". The first cases with selective IgA deficiency were diagnosed in 1963-64, 10 years after immunoglobulin A was described in the serum by Graber and Williams. SIgAD is more prevalent in caucasians. It is classified based on either the laboratory values of B-cells subsets or the clinical phenotype of individuals with the condition. SIgAD has been attributed to an intrinsic B cell lymphocyte defect, T cell lymphocyte abnormalities and most recently an impairment in cytokine regulation indicating that it is a heterogenous dysfunction but the exact mechanism is still not clear. SIgAD may be genetically transferred but the inheritance pattern is variable. Several studies have reported SIgAD linkage with MHC and non MHC susceptibility genes that are also found in many autoimmune conditions which somewhat explains their association. Majority of patients with SIgAD are asymptomatic. Symptomatic patients may present with Infections such otitis media, sinopulmonary infections, gastrointestinal infections, allergies or autoimmune conditions. Diagnosis is usually based on serum level of immunoglobulin A. There is no specific treatment for selective IgA deficiency but there are several components of its management to prevent the progression and complications such as patient education, vaccination, use of antibiotics and immunoglobulins. The prognosis is generally very good but few cases may progress to common variable immunodeficiency that doesn't predict a favorable outcome.

Historical Perspective

  • Immunoglobulin A was first discovered in the serum by Graber and Williams in 1953.[1]
  • Within 10 years, the first cases with selective IgA deficiency were identified in healthy as well as in patients with ataxia telangiectasia.[2][3]

Classification

  • Selective IgA deficiency may be classified based on either the laboratory values of B-cells subsets or the clinical phenotype of individuals with the condition.

Classification Based on Memory B cell Population

SIgAD can be classified based on the laboratory values of the B-cell subsets such as naive, IgM memory, switched memory or IgM+CD21- B cells in patients as compared to healthy individuals.[4]

 
 
 
 
 
 
 
 
 
 
 
 
Percentage of switched Memory B cells (CD 19+, CD 21+, IgD-)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SIgAD1
Less than 0.4% of switched memory B cells (CD19+, CD21+, IgD-)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SIgAD2
Greater than 0.4% of switched memory B cells (CD19+, CD21+, IgD-)
 

Classification Based on the Clinical Presentation

  • Health related quality of life(HRQL) can be compromised by the severity of symptoms in patients with selective IgA deficiency. It is classified based on the clinical presentation of the patients suffering from it.[5][6][7][8][9][10][11][12][13][14][15]
Clinical Phenotypes Description
Asymptomatic
  • About 60% of the patients are asymptomatic
  • Care should be taken while transfusing blood or blood products in these patients.
  • Regular monitoring i.e every 4-6 months is required as the disease can progress.
  • Patient should be educated but no therapeutic intervention is required.
Minor Infections
  • About 12% of the patients have minor infections.
  • Infections are usually caused by viral or bacterial agents that normally resolves without any sequel but sometimes it severe infections can occur Investigations for secondary immune defects such as IgG2 subclass deficiency or mannan-binding lectin should be done to find out predisposing factors.
  • A notable decrease in both physical and mental component affecting quality of life ( QoL) is observed in patients with this phenotype.
Allergy
  • About 15% of the patients with SIgAD have allergic manifestations predominantly.
  • Mental component is affected compromising the quality of life (QoL)in patients of this group.
  • Allergic manifestations are more severe in patients with SIgAD as compared to patients with normal IgA levels so special consideration should be given to the prevention and treatment of these patients. Evaluations of serum IgE level, skin prick test and lung function test are suggested in these patients.
Autoimmune
Severe symptoms
  • A few percent of the patient with SIgAD develop both recurrent or severe infections and autoimmune disorders fall into severe symptoms phenotype.
  • Associaton with HLA haplotype( A1, B8, DR1) increases the risk to develop severe symptoms and progression to common variable Immunodeficiency (CVID).
  • Mortality rate for this group is twice as compared to the general population.
  • It is proposed that the patient with this phenotype and the family history of both SIgAD and CVID perform the basic clinical and immunologic evaluation and regular follow-up examinations.


Pathophysiology

Pathogenesis

  • Several studies were carried out to establish the mechanism involved in selective IgA immunodeficiency but the exact pathogensis is still not clear.
  • SIgAD has been attributed to an intrinsic B cell lymphocyte defect, T cell lymphocyte abnormalities and most recently an impairment in cytokines regulation indicating that it is a heterogenous dysfunction.[8][16][17]
  • The most common pathological process involved in patients with selective immunoglobulin A deficiency is a maturation defect in B cells to produce IgA.[18]
  • Normally, the surface immunoglobulins are acquired in a sequential manner in B- cell differentiation. The first surface immunoglobulin to appear on B cells is IgM, as the cells mature they acquire surface IgD and sometimes IgA or IgG. A fully differentiated B cell performs a specfic function which means it would bear a specfic surface immunoglobulin. It is found that Patients with sIgAD have B cells arrested at a stage where they co-express surface IgM, IgD as well as IgA and donot develop into IgA secreting plasma cells.[19].
  • The abnormality appears to involve stem cells as it can be passed on by bone marrow transplantation.[20]
  • Cytokine dysregulation such as lack of IL-4, IL-6, IL-7, IL-10, TGF-b and most recently IL-21 is suggested to play a role in SIgAD.[17][21]

Genetics

  • Several genetic mutations are associated with SIgAD which suggest its polygenic nature but whether and how they imply causation is yet to be established.
SIgAD association with MHC and Non MHC Genes
MHC Susceptibility genes Non MHC Susceptibility genes
  • MHC class III: C2, C4A, C4B and MSH5[29]
  • Mutation in tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene that encodes for tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) protein also known as "transmembrane activator and calcium-modulator and cyclophilin ligand interactor"(TACI), a molecule responsible for isotype switching in B-cells is also found in this condition.[30][31]

Associated Conditions

Diseases Description
Common Variable Immunodeficiency
  • Common genetic basis has been proposed for IgA deficiency and common variable immunodeficiency by their existence in the members of the same family and the underlying B cell defect.[32]
  • IgA deficiency may progress into combined variable immundeficinecy.[33]
Autoimmune Conditions
Ataxia Telangectasia [38][39]
Risk for Cancer
  • There is an increased risk of cancer specifically of the gastrointestinal tract in adults. Though children with IgA deficiency are not at increased risk for cancers.[40][41]

Causes

  • The cause of selective IgA deficiency has not been identified. To review risk factors for the development of this disease, click risk factors.

Differentiating IgA Deficiency from Other Diseases

Disorder Defect (Mechanism of Development) Characteristic Features Clinical Presentation Laboratory Findings
X-Linked (Bruton) Agammaglobulinemia
Selective IgA Deficiency
  • Serum IgA < 7 mg/dl
  • Normal IgG and IgM levels
Common Variable Immunodeficiency
  • Defective B cell differentiation
  • May be acquired in 20-30 years of age
Autosomal dominant hype IgE syndrome (Job's Syndrome)
  • Distinctive coarse facies
  • Cold (non-inflammatory) Staphylococcal abscesses
  • Retained primary teeth
  • Eczema
Severe combined immunodeficiency (SCID)
Ataxia Telangiectasia
Hyper IgM Syndrome
Wiskott-Aldrich Syndrome
  • Malignancy: can cause the reduction in the immunoglobulin production.[89]
  • Viral infections: such as Epstein-Barr virus, HIV, cytomegalovirus are other causes of hypogammaglobulinemia.
  • Side effect of certain medications: Some drugs include systemic glucocorticoids, phenytoin, and carbamazepine, have been associated with IgG deficiency.[90]
  • Other causes of primary humoral immunodeficiencies.
  • Smoking: may cause IgG2 subclass deficiency.[91]
  • Protein-losing conditions: enteropathies, nephrotic syndrome, burns, and other traumas may cause abnormal loss of immunoglobulins.

Epidemiology and Demographics

Incidence of selective IgA deficiency
in blood donors among different countries
Country Incidence per 100,000 person years
Czech Republic[93] 244
Australia[94] 226
Finland[95] 200
Iceland[96] 157
England[97] 114
Brazil[98] 104
Iran[99] 102
Japan[100] 5


Incidence of selective IgA deficiency in
children and young age group among different
countries
Country Incidence per 100,000 person years
Canada[101] 746
Spain[102] 613
Turkey[103] 578
Finland[104] 531
Nigeria[105] 520
China[106] 398
Sweden[8] 52
  • High prevalence rate of SIgAD was observed in first degree relatives of symptomatic SIgAD patient with consanguineous marriages.[107]

Risk Factors

  • Positive family history of IgA deficiency or common variable immunodeficiency.[108]
  • The familial inheritance pattern is variable.[109]
  • Moreover penetrance of IgAD in the offspring varies with the gender of the transmitting parent with affected mother being more likely to transfer the disease to her offspring.[110]

Screening

  • As high rate of familial inheritance is in families with SIgAD, screening in first-degree relatives of such patients may be performed.[111][112]

Natural History, Complications, and Prognosis

Natural History

  • Children ≤ 4 years of age may have transient IgA defiecncy and have a full recovery.[113]
  • Majority of the patients > 4 years of age with SIgAD remain asymptomatic. Some of them will develop minor infections, allergies, autoimmune conditions and very few cases will have severe symptoms or progress to CVID.[114]

Complications

Prognosis

  • Prognosis in patients with selective IgA deficiency depends on the clinical phenotype and is generally good as most of the patient are asymptomatic.
  • Sponatanous recovery has been seen in cases with partial IgA deficiency.[115]
  • In rare occasions, the disease may progress to common variable immunodeficiency which doesn't predict a favourable outcome.[11][116]


Diagnostic Criteria

  • Selective IgA deficiency is a laboratory finding that may not be associated with significant clinical presentaion.
  • Mainly based on direct measurement of serum IgA levels.
  • Serum IgA levels ≤ 7 mg/dl in the presence of normal IgG and IgM in patients older than 4 years of age is diagnostic.[56]
  • It can be transient finding in children ≤4 years of age.[117]
  • There should be high suspicion of SIgAD in patients having blood transfusion reaction.
  • In addition SIgAD should always be considered as one of the differentials in patients suffering from recurrent infections.

Symptoms

Physical Examination

  • Patients with SIgAD usually appear normal but may have physical findings due to associated conditions.

Laboratory Findings

  • serum IgA ≤ 0.7 mg/dl with normal levels of IgM and IgG.

Electrocardiogram

There are no ECG findings associated with SIgAD.

X-ray

  • There are no x-ray findings associated with SIgAD.

Echocardiography or Ultrasound

CT scan

  • There are no CT scan findings associated with SIgAD.

MRI

Other Imaging Findings

  • No other imaging studies are used to diagnose SIgAD.


Treatment

  • There is no specific treatment for selective IgA deficiency. Individuals can be managed based on their symptoms as the presentation varies.

Medical Therapy

  • Antibiotics are used to treat bacterial infections in patients with SIgAD. Prophylactic antibiotics may be used for recurrent infections[118]
  • If prophylactic antibiotics fail, rarely, a trial of immunoglobulin replacement therapy with minimal component of IgA may be tried especially in patients with associated antibody or subclass deficiency, though its use in SIgAD is controversial as it can lead to anaphylactic reactions and serum immunoglobulins should always be checked before its administration.[119].[120][121][122].
  • If blood transfusion is required, IgA deficient or washed blood components should be used.[123][124]
  • Other treatment options depends on the associated conditions.

Primary Prevention

  • Selective IgA deficiency is inherited with a variable inheritance pattern. There are no established measures for the primary prevention.

Secondary and Tertiary Prevention

  • Effective measures for secondary and tertiary prevention of selective IgA deficiency include:
  • Patient Education
    • Patient with severe IgA deficiency may have anaphylactic reaction secondary to blood transfusion or its products. It is specifically seen in patients with undetectable serum IgA levels. These patients develop anti IgA antibodies so they should be advised to wear medical alert bracelet.[125][121][49]
    • IgA levels should be periodically monitored in asymptomatic patients.
  • Vaccination:
  • Use of antibiotics:
    • Prophylactic antibiotics can be given to patients with SIgAD to prevent infections and other complications.[126]

References

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