Selective immunoglobulin A deficiency

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

Synonyms and keywords:

Overview

Historical Perspective

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

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

Selective IgA deficiency can 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.[3]

 
 
 
 
 
 
 
 
 
 
 
 
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 Phenotype

  • 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.[4][5][6]
Selective immunoglobulin A classification based on clinical phenotypes of the patients
  • About 60% of the patients have no clinical findings.
  • Care should be taken while transfusing blood or blood products
  • Regular monitoring i.e every 4-6 months is required as the disease may progress
  • Patient should be educated but no therapeutic intervention is required
minor infections Phenotype
  • About 12% of the patients have minor infection phenotype.
  • Quality of life ( QoL) both in physical and mental components are significantly decreased in patients with this phenotype.[7]
  • Infections are usually caused by viral or bacterial agents that normally resolves without any sequel but few patients have severe infections and need investigations for secondary immune defects such as IgG2 subclass deficiency or mannan-binding lectin.
Allergy Phenotype
  • About 15% of the patients fall under this category.
  • QoL is severely affected in patients of this group, particularly in the mental component.[8]
  • Allergic manifestations in this group of patients are more severe than in the general population 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 Phenotype
  • There is an evidence of reduced proper mental and physical function affecting the QoL in patients with SIgAD.[9]
  • Among the autoimmune disorders, idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia are more common in patients with IgA deficiency requiring blood or blood product administration frequently which should be performed with caution.
  • Based on the concurrence of autoimmune disorders with SIgAD, screening of IgA levels should be considered. In patients with SIgAD, IgA-based serological diagnosis of autoimmunity is difficult, since these assays may usually be negative leading to underestimation of the prevalence of these diseases.
  • Other autoantibodies could be found in the serum of some patients with SIgAD without any clinical autoimmune manifestations such as antibodies against thyroglobulin, thyroid microsomal antigens, red blood cells, basement membrane, smooth muscle cells, pancreatic cells, cardiolipin, human collagen, and adrenal cells. Although the presence and certain level of these antibodies donot predict the development of disorders but could be suggestive of future disease.[10]
Severe symptoms Phenotype
  • A few percent of the patient with SIgAD develop both recurrent or severe infections and autoimmune disorders fall into severe symptoms phenotype.
  • there is an association with HLA predisposing haplotype, reduced memeory B cells and decrease Treg counts.
  • Severe phenotype of selective IgA deficency and Combined variable immunodeficiecny share common clinical feature, eviddence of development of both the disease in a single family and progression of SIgAD into CVID propose a common genetic background.
  • 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 abnormalities and most recently an impairment in cytokine regulation indicating that it is a heterogenous dysfunction.[11][12][13]
  • The most common pathological process involved in patients with selective immunoglobulin A deficiency is a maturation defect in B cells to produce IgA.[14]
  • 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 coexpress surface IgM, IgD as well as IgA and donot develop into IgA secreting plasma cells.[15].
  • The abnormality appears to involve stem cells as it can be passed on by bone marrow transplantation.[16]
  • 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[13][17]

Genetics

  • SIgAD is linked to several genetic abnormalities but whether they are involved in its causation is yet to be established. one of those malformations is a mutation in tumor necrosis factor(TNF) family member "transmembrane activator and calcium-modulator and cyclophilin ligand interactor"(TACI), a molecule responsible for isotype switching in B-cells.[18]

Associated Conditions

Diseases Associated with IgA deficinecy
Combined 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. [19]* IgA deficiency may progress into combined variable immundeficinecy.[20]
Ataxia Telangiectasia[21]
Carcinomas
  • 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.[22][23]
Autoimmune disorders
  • Several autoimmune diseases have been associated with SIgAD.[24]

The most common of them are:

    • cCeliac disease
    • t=Type 1 diabetes myelitis
    • Inflammatory bowel disease
  • Other less common conditions associated are:
    • Rheumatoid arthritis
    • Ulcerative colitis
    • Hyperthyreosis
    • Idiopathic juvenile arthritis
    • Hypothyreosis
    • Systemic lupus erythematosus
    • Mysthenia gravis
    • Idiopathic Pulmonary Hemosiderosis[25]

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating IgA Deficiency from Other Diseases

IgA defieciency should be differentiated from other disorders leading to hypogammaglobulinemia and defects of humoral immunity. The following conditions may be considered as differentials:[26][27][28][29][30][31][32][33][34][11][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][48][53][54][55][56][57][58][59][60][61][62][63][64][65][66][67][68][69][70][71][72][73][74]

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.[75]
  • 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.[76]
  • Other causes of primary humoral immunodeficiencies.
  • Smoking: may cause IgG2 subclass deficiency.[77]
  • Protein-losing conditions: enteropathies, nephrotic syndrome, burns, and other traumas may cause abnormal loss of immunoglobulins.

fferential dx3].

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

Selective IgA is diagnosed based on serum levels of IgA in individuals older than 4 years of age. As high rate of familial inheritance can be seen in families with SIgAD, so It is recommended to do the screening in first-degree relatives of such patients.[78]

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

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 examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

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

  • There is no specific treatment for selective IgA deficiency. Individuals can be treated based on their symptoms as the presentation varies from patient to patient.
  • There are several aspects of care in patients with selective IgA deficiency:
    • Patient Education
    • Vaccination
    • Use of Antibiotics
    • Use of Immunoglobulins
    • Management of associated conditions
  • Patient Education
    • Patient with severe IgA deficiency can have anaphylactic reactions 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.[79][80][33]
    • IgA levels should be periodically monitored in asymptomatic patients.
  • Vaccination:
    • Pneumococcal vaccine is recommended in patients with SIgAD to reduce the risk of sino-pulmonary infections.
  • Use of antibiotics:
    • A trial of antibiotic prophylaxis is usually given to patients with SIgAD who are not taking immunoglobulins.[81]

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

OR

Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].

References

  1. ↑ DUNN HG, MEUWISSEN H, LIVINGSTONE CS, PUMP KK (November 1964). "ATAXIA-TELANGIECTASIA". Can Med Assoc J. 91: 1106–18. PMC 1928365. PMID 14229760.
  2. ↑ Crabbé PA, Heremans JF (April 1966). "Lack of gamma A-immunoglobulin in serum of patients with steatorrhoea". Gut. 7 (2): 119–27. PMC 1552348. PMID 4160439.
  3. ↑ Aghamohammadi A, Abolhassani H, Biglari M, Abolmaali S, Moazzami K, Tabatabaeiyan M, Asgarian-Omran H, Parvaneh N, Mirahmadian M, Rezaei N (2011). "Analysis of switched memory B cells in patients with IgA deficiency". Int. Arch. Allergy Immunol. 156 (4): 462–8. doi:10.1159/000323903. PMID 21832837.
  4. ↑ Jörgensen GH, Gardulf A, Sigurdsson MI, Arnlaugsson S, Hammarström L, Ludviksson BR (March 2014). "Health-related quality of life (HRQL) in immunodeficient adults with selective IgA deficiency compared with age- and gender-matched controls and identification of risk factors for poor HRQL". Qual Life Res. 23 (2): 645–58. doi:10.1007/s11136-013-0491-9. PMID 24022790.
  5. ↑ Yazdani R, Latif A, Tabassomi F, Abolhassani H, Azizi G, Rezaei N, Aghamohammadi A (2015). "Clinical phenotype classification for selective immunoglobulin A deficiency". Expert Rev Clin Immunol. 11 (11): 1245–54. doi:10.1586/1744666X.2015.1081565. PMID 26306496.
  6. ↑ Hauge SC, Jensen CK, Nielsen LK, Pedersen OB, Sørensen E, Thørner LW, Hjalgrim H, Erikstrup C, Nielsen KR, Kaspersen KA, Didriksen M, Dziegiel M, Ullum H (March 2018). "The association of IgA deficiency on infection rate, self-perceived health, and levels of C-reactive protein in healthy blood donors". APMIS. 126 (3): 248–256. doi:10.1111/apm.12807. PMID 29484746.
  7. ↑ Jörgensen GH, Gardulf A, Sigurdsson MI, Arnlaugsson S, Hammarström L, Ludviksson BR (March 2014). "Health-related quality of life (HRQL) in immunodeficient adults with selective IgA deficiency compared with age- and gender-matched controls and identification of risk factors for poor HRQL". Qual Life Res. 23 (2): 645–58. doi:10.1007/s11136-013-0491-9. PMID 24022790.
  8. ↑ Jörgensen GH, Gardulf A, Sigurdsson MI, Arnlaugsson S, Hammarström L, Ludviksson BR (March 2014). "Health-related quality of life (HRQL) in immunodeficient adults with selective IgA deficiency compared with age- and gender-matched controls and identification of risk factors for poor HRQL". Qual Life Res. 23 (2): 645–58. doi:10.1007/s11136-013-0491-9. PMID 24022790.
  9. ↑ Jörgensen GH, Gardulf A, Sigurdsson MI, Arnlaugsson S, Hammarström L, Ludviksson BR (March 2014). "Health-related quality of life (HRQL) in immunodeficient adults with selective IgA deficiency compared with age- and gender-matched controls and identification of risk factors for poor HRQL". Qual Life Res. 23 (2): 645–58. doi:10.1007/s11136-013-0491-9. PMID 24022790.
  10. ↑ Latiff AH, Kerr MA (March 2007). "The clinical significance of immunoglobulin A deficiency". Ann. Clin. Biochem. 44 (Pt 2): 131–9. doi:10.1258/000456307780117993. PMID 17362578.
  11. ↑ 11.0 11.1 Cunningham-Rundles C (September 2001). "Physiology of IgA and IgA deficiency". J. Clin. Immunol. 21 (5): 303–9. PMID 11720003.
  12. ↑ Soheili H, Abolhassani H, Arandi N, Khazaei HA, Shahinpour S, Hirbod-Mobarakeh A, Rezaei N, Aghamohammadi A (2013). "Evaluation of natural regulatory T cells in subjects with selective IgA deficiency: from senior idea to novel opportunities". Int. Arch. Allergy Immunol. 160 (2): 208–14. doi:10.1159/000339867. PMID 23018812.
  13. ↑ 13.0 13.1 Ramsay AJ, Husband AJ, Ramshaw IA, Bao S, Matthaei KI, Koehler G, Kopf M (April 1994). "The role of interleukin-6 in mucosal IgA antibody responses in vivo". Science. 264 (5158): 561–3. PMID 8160012.
  14. ↑ Wang Z, Yunis D, Irigoyen M, Kitchens B, Bottaro A, Alt FW, Alper CA (June 1999). "Discordance between IgA switching at the DNA level and IgA expression at the mRNA level in IgA-deficient patients". Clin. Immunol. 91 (3): 263–70. doi:10.1006/clim.1999.4702. PMID 10370371.
  15. ↑ Conley ME, Cooper MD (August 1981). "Immature IgA B cells in IgA-deficient patients". N. Engl. J. Med. 305 (9): 495–7. doi:10.1056/NEJM198108273050905. PMID 6973088.
  16. ↑ Hammarström L, Lönnqvist B, Ringdén O, Smith CI, Wiebe T (April 1985). "Transfer of IgA deficiency to a bone-marrow-grafted patient with aplastic anaemia". Lancet. 1 (8432): 778–81. PMID 2858666.
  17. ↑ Borte S, Pan-Hammarström Q, Liu C, Sack U, Borte M, Wagner U, Graf D, Hammarström L (November 2009). "Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency". Blood. 114 (19): 4089–98. doi:10.1182/blood-2009-02-207423. PMID 19738033.
  18. ↑ Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS (August 2005). "TACI is mutant in common variable immunodeficiency and IgA deficiency". Nat. Genet. 37 (8): 829–34. doi:10.1038/ng1601. PMID 16007086.
  19. ↑ Schroeder HW, Zhu ZB, March RE, Campbell RD, Berney SM, Nedospasov SA, Turetskaya RL, Atkinson TP, Go RC, Cooper MD, Volanakis JE (February 1998). "Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes". Mol. Med. 4 (2): 72–86. PMC 2230309. PMID 9508785.
  20. ↑ Johnson ML, Keeton LG, Zhu ZB, Volanakis JE, Cooper MD, Schroeder HW (June 1997). "Age-related changes in serum immunoglobulins in patients with familial IgA deficiency and common variable immunodeficiency (CVID)". Clin. Exp. Immunol. 108 (3): 477–83. PMC 1904696. PMID 9182895.
  21. ↑ Staples ER, McDermott EM, Reiman A, Byrd PJ, Ritchie S, Taylor AM, Davies EG (August 2008). "Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene". Clin. Exp. Immunol. 153 (2): 214–20. doi:10.1111/j.1365-2249.2008.03684.x. PMC 2492895. PMID 18505428.
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