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==Overview==
==Overview==
'''Selective Immunoglobulin A( IgA) deficiency''' 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.
'''Selective Immunoglobulin A( IgA) deficiency''' 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==
==Historical Perspective==

Revision as of 14:53, 10 December 2018

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

Synonyms and keywords:

Overview

Selective Immunoglobulin A( IgA) deficiency 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.
  • Within 10 years, the first cases with selective IgA deficiency were identified in healthy as well as in patients with ataxia telangiectasia.[1][2]

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.[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 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.[4][5][6][7][8][9][10][11][12][13][14]
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 cytokine regulation indicating that it is a heterogenous dysfunction.[7][15][16]
  • The most common pathological process involved in patients with selective immunoglobulin A deficiency is a maturation defect in B cells to produce IgA.[17]
  • 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.[18].
  • The abnormality appears to involve stem cells as it can be passed on by bone marrow transplantation.[19]
  • 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[16][20]

Genetics

  • Several genetic mutations are associated with SIgAD which suggest its polygenic nature but whtether 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.[28]

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.[31]
  • IgA deficiency may progress into combined variable immundeficinecy.[32]
Autoimmune Conditions
Ataxia Telangectasia [37][38]
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.[39][40]

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

IgA defieciency should be differentiated from other disorders leading to hypogammaglobulinemia and defects of humoral immunity. The following conditions may be considered as differentials:[41][42][43][44][45][46][47][48][49][7][50][51][52][53][54][34][55][56][57][58][59][60][61][62][63][64][65][66][62][67][68][69][70][71][72][73][74][75][76][77][30][78][79][80][81][82][83][84][85][86][87]

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.[88]
  • 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.[89]
  • Other causes of primary humoral immunodeficiencies.
  • Smoking: may cause IgG2 subclass deficiency.[90]
  • 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 244[92]
Australia 226[93]
Finland 200[94]
Iceland 157.[95]
England 114[96]
Brazil 104[97]
Iran 102[98]
Japan 5[99]


Incidence of selective IgA deficiency in
children and young age group among different
countries
Country Incidence per 100,000 person years
Canada 746[100]
Spain 613[101]
Turkey 578[102]
Finland 531[103]
Nigeria 520[104]
China 398[105]
Sweden 52[7]
  • High prevalence rate of SIgAD was observed in first degree relatives of symptomatic SIgAD patient with consanguineous marriages[106]

Risk Factors

  • Positive family history of IgA deficiency or common variable immunodeficiency.[107].
  • The familial inheritance pattern is variable.[108]
  • 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.[109].

Screening

As high rate of familial inheritance is in families with SIgAD, so It is recommended to do the screening in first-degree relatives of such patients.[110]

Natural History, Complications, and Prognosis

Natural History

  • Children less than 4 years of age may have transient IgA defiecncy and have a full recovery.[111].
  • Majority of the patients older than 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.[112]

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 rare cases with partial IgA deficiency.[113]
  • In rare occasions, the disease may progress to common variable immunodeficiency which doesn't predict a favourable outcome..[10][114]


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 less than 0.7 mg/dl in the presence of normal IgG and IgM is diagnostic.
  • There should be high suspicion of SIgAD in patients having blood transfusion reaction.

Symptoms

Physical Examination

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

Laboratory Findings

  • serum IgA less than 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

There are no echocardiography/ultrasound findings associated with SIgAD.

CT scan

There are no CT scan findings associated with SIgAD.

MRI

There are no MRI findings associated with SIgAD.

Other Imaging Modalities

  • 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 can be used for recurrent infections.
  • If prophylactic antibiotics fail, a trial of immunoglobulin replacement therapy with minimal component of IgA may be tried especially in patients with associated antibody or subclass deficiency. Intravenous or subcutaneous routes may be used.
  • serum IgA antibodies should always be checked in such patient before administration of IVIG to prevent the risk of anaphylaxis.
  • If blood transfusion is required, IgA deficient or washed blood components should be used.[115]
  • 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.[116][117][48]
    • IgA levels should be periodically monitored in asymptomatic patients.
  • Vaccination:
    • Pneumococcal vaccine is recommended in patients with SIgAD to reduce the risk of sinopulmonary infections.
  • Use of antibiotics:
    • Prophylactic antibiotics can be given to patients with SIgAD to prevent infections and other complications.[118]

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. ↑ 7.0 7.1 7.2 7.3 Cunningham-Rundles C (September 2001). "Physiology of IgA and IgA deficiency". J. Clin. Immunol. 21 (5): 303–9. PMID 11720003.
  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. ↑ 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.
  10. ↑ 10.0 10.1 Aghamohammadi A, Mohammadi J, Parvaneh N, Rezaei N, Moin M, Espanol T, Hammarstrom L (2008). "Progression of selective IgA deficiency to common variable immunodeficiency". Int. Arch. Allergy Immunol. 147 (2): 87–92. doi:10.1159/000135694. PMID 18520152.
  11. ↑ Cheraghi T, Aghamohammadi A, Mirminachi B, Keihanian T, Hedayat E, Abolhassani H, Sagvand BT, Rezaei N (2014). "Prediction of the evolution of common variable immunodeficiency: HLA typing for patients with selective IgA deficiency". J Investig Allergol Clin Immunol. 24 (3): 198–200. PMID 25011360.
  12. ↑ Turner MW (October 1991). "Deficiency of mannan binding protein--a new complement deficiency syndrome". Clin. Exp. Immunol. 86 Suppl 1: 53–6. PMC 1554043. PMID 1934604.
  13. ↑ Aittoniemi J, Baer M, Soppi E, Vesikari T, Miettinen A (March 1998). "Mannan binding lectin deficiency and concomitant immunodefects". Arch. Dis. Child. 78 (3): 245–8. PMC 1717510. PMID 9613355.
  14. ↑ Aittoniemi J, Koskinen S, Laippala P, Laine S, Miettinen A (June 1999). "The significance of IgG subclasses and mannan-binding lectin (MBL) for susceptibility to infection in apparently healthy adults with IgA deficiency". Clin. Exp. Immunol. 116 (3): 505–8. PMC 1905297. PMID 10361242.
  15. ↑ 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.
  16. ↑ 16.0 16.1 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.
  17. ↑ 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.
  18. ↑ 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.
  19. ↑ 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.
  20. ↑ 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.
  21. ↑ Oen K, Petty RE, Schroeder ML (March 1982). "Immunoglobulin A deficiency: genetic studies". Tissue Antigens. 19 (3): 174–82. PMID 7089956.
  22. ↑ Hammarström L, Smith CI (January 1983). "HLA-A, B, C and DR antigens in immunoglobulin A deficiency". Tissue Antigens. 21 (1): 75–9. PMID 6601317.
  23. ↑ Ferreira RC, Pan-Hammarström Q, Graham RR, Gateva V, Fontán G, Lee AT, Ortmann W, Urcelay E, Fernández-Arquero M, Núñez C, Jorgensen G, Ludviksson BR, Koskinen S, Haimila K, Clark HF, Klareskog L, Gregersen PK, Behrens TW, Hammarström L (September 2010). "Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency". Nat. Genet. 42 (9): 777–80. doi:10.1038/ng.644. PMID 20694011.
  24. ↑ MacHulla HK, Schönermarck U, Schaaf A, Müller LP, Kloss C, Krüger J, Kunze G, Schönermarck G, Langner J (August 2000). "HLA-A, B, Cw and DRB1, DRB3/4/5, DQB1, DPB1 frequencies in German immunoglobulin A-deficient individuals". Scand. J. Immunol. 52 (2): 207–11. PMID 10931389.
  25. ↑ Olerup O, Smith CI, Hammarström L (September 1990). "Different amino acids at position 57 of the HLA-DQ beta chain associated with susceptibility and resistance to IgA deficiency". Nature. 347 (6290): 289–90. doi:10.1038/347289a0. PMID 1976229.
  26. ↑ 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.
  27. ↑ Reil A, Bein G, Machulla HK, Sternberg B, Seyfarth M (November 1997). "High-resolution DNA typing in immunoglobulin A deficiency confirms a positive association with DRB1*0301, DQB1*02 haplotypes". Tissue Antigens. 50 (5): 501–6. PMID 9389325.
  28. ↑ Volanakis JE, Zhu ZB, Schaffer FM, Macon KJ, Palermos J, Barger BO, Go R, Campbell RD, Schroeder HW, Cooper MD (June 1992). "Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency". J. Clin. Invest. 89 (6): 1914–22. doi:10.1172/JCI115797. PMC 295891. PMID 1351062.
  29. ↑ 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.
  30. ↑ 30.0 30.1 Salzer U, Chapel HM, Webster AD, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schäffer AA, Hammarström L, Grimbacher B (August 2005). "Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans". Nat. Genet. 37 (8): 820–8. doi:10.1038/ng1600. PMID 16007087.
  31. ↑ 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.
  32. ↑ 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.
  33. ↑ Ludvigsson JF, Neovius M, Hammarström L (May 2014). "Association between IgA deficiency & other autoimmune conditions: a population-based matched cohort study". J. Clin. Immunol. 34 (4): 444–51. doi:10.1007/s10875-014-0009-4. PMID 24584841.
  34. ↑ 34.0 34.1 Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC (May 2008). "Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper". J. Clin. Immunol. 28 Suppl 1: S56–61. doi:10.1007/s10875-007-9163-2. PMID 18202833.
  35. ↑ Wang N, Shen N, Vyse TJ, Anand V, Gunnarson I, Sturfelt G, Rantapää-Dahlqvist S, Elvin K, Truedsson L, Andersson BA, Dahle C, Ortqvist E, Gregersen PK, Behrens TW, Hammarström L (2011). "Selective IgA deficiency in autoimmune diseases". Mol. Med. 17 (11–12): 1383–96. doi:10.2119/molmed.2011.00195. PMC 3321806. PMID 21826374.
  36. ↑ Erkoçoğlu M, Civelek E, Kocabaş CN (October 2016). "Unusual presentation: Concurrent IgA deficiency and idiopathic pulmonary hemosiderosis". Pediatr. Pulmonol. 51 (10): E34–E36. doi:10.1002/ppul.23445. PMID 27120139.
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  89. ↑ W. B. Klaustermeyer, M. E. Gianos, M. L. Kurohara, H. T. Dao & D. C. Heiner (1992). "IgG subclass deficiency associated with corticosteroids in obstructive lung disease". Chest. 102 (4): 1137–1142. PMID 1343817. Unknown parameter |month= ignored (help)
  90. ↑ I. Qvarfordt, G. C. Riise, B. A. Andersson & S. Larsson (2001). "IgG subclasses in smokers with chronic bronchitis and recurrent exacerbations". Thorax. 56 (6): 445–449. PMID 11359959. Unknown parameter |month= ignored (help)
  91. ↑ Jorgensen GH, Gardulf A, Sigurdsson MI, Sigurdardottir ST, Thorsteinsdottir I, Gudmundsson S, Hammarström L, Ludviksson BR (May 2013). "Clinical symptoms in adults with selective IgA deficiency: a case-control study". J. Clin. Immunol. 33 (4): 742–7. doi:10.1007/s10875-012-9858-x. PMID 23389234.
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  109. ↑ Vorechovský I, Webster AD, Plebani A, Hammarström L (April 1999). "Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition". Am. J. Hum. Genet. 64 (4): 1096–109. PMC 1377834. PMID 10090895.
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