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Immunoglobulin A deficiency 2(IGAD2)

MedGen UID:
372182
•Concept ID:
C1836032
•
Disease or Syndrome
Synonyms: IgA, selective deficiency of, TACI related; IGAD2; Immunoglobulin A, selective deficiency of, TACI related
 
Gene (location): TNFRSF13B (17p11.2)
 
Monarch Initiative: MONDO:0012291
OMIM®: 609529

Definition

Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene. [from MONDO]

Clinical features

From HPO
Recurrent infection of the gastrointestinal tract
MedGen UID:
343135
•Concept ID:
C1854495
•
Disease or Syndrome
Recurrent infection of the gastrointestinal tract.
See: Feature record | Search on this feature
Recurrent sinopulmonary infections
MedGen UID:
339549
•Concept ID:
C1846546
•
Finding
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
See: Feature record | Search on this feature
Autoimmunity
MedGen UID:
2136
•Concept ID:
C0004368
•
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
See: Feature record | Search on this feature
Decreased circulating IgA concentration
MedGen UID:
57934
•Concept ID:
C0162538
•
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
See: Feature record | Search on this feature
Abnormal lymphocyte morphology
MedGen UID:
66370
•Concept ID:
C0221277
•
Finding
An abnormality of lymphocytes.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

AGA Clinical Practice Update on the Evaluation and Management of Seronegative Enteropathies: Expert Review.
Leonard MM, Lebwohl B, Rubio-Tapia A, Biagi F
Gastroenterology 2021 Jan;160(1):437-444. Epub 2020 Oct 1 doi: 10.1053/j.gastro.2020.08.061. PMID: 33010252
AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease-Changing Utility of Serology and Histologic Measures: Expert Review.
Husby S, Murray JA, Katzka DA
Gastroenterology 2019 Mar;156(4):885-889. Epub 2018 Dec 19 doi: 10.1053/j.gastro.2018.12.010. PMID: 30578783Free PMC Article
Immunodeficiency in chronic sinusitis: recognition and treatment.
Stevens WW, Peters AT
Am J Rhinol Allergy 2015 Mar-Apr;29(2):115-8. doi: 10.2500/ajra.2015.29.4144. PMID: 25785751

Recent clinical studies

Etiology

Celiac Disease-Related Conditions: Who to Test?
Zingone F, Bai JC, Cellier C, Ludvigsson JF
Gastroenterology 2024 Jun;167(1):64-78. Epub 2024 Mar 7 doi: 10.1053/j.gastro.2024.02.044. PMID: 38460606
Serum anti-tissue transglutaminase IgA and prediction of duodenal villous atrophy in adults with suspected coeliac disease without IgA deficiency (Bi.A.CeD): a multicentre, prospective cohort study.
Ciacci C, Bai JC, Holmes G, Al-Toma A, Biagi F, Carroccio A, Ciccocioppo R, Di Sabatino A, Gingold-Belfer R, Jinga M, Makharia G, Niveloni S, Norman GL, Rostami K, Sanders DS, Smecuol E, Villanacci V, Vivas S, Zingone F; Bi.A.CeD study group
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1005-1014. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00205-4. PMID: 37696284
Who to screen and how to screen for celiac disease.
Singh P, Singh AD, Ahuja V, Makharia GK
World J Gastroenterol 2022 Aug 28;28(32):4493-4507. doi: 10.3748/wjg.v28.i32.4493. PMID: 36157923Free PMC Article
Clinical phenotype classification for selective immunoglobulin A deficiency.
Yazdani R, Latif A, Tabassomi F, Abolhassani H, Azizi G, Rezaei N, Aghamohammadi A
Expert Rev Clin Immunol 2015;11(11):1245-54. Epub 2015 Aug 26 doi: 10.1586/1744666X.2015.1081565. PMID: 26306496
Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial.
Chapman KR, Burdon JG, Piitulainen E, Sandhaus RA, Seersholm N, Stocks JM, Stoel BC, Huang L, Yao Z, Edelman JM, McElvaney NG; RAPID Trial Study Group
Lancet 2015 Jul 25;386(9991):360-8. Epub 2015 May 27 doi: 10.1016/S0140-6736(15)60860-1. PMID: 26026936

Diagnosis

Celiac Disease-Related Conditions: Who to Test?
Zingone F, Bai JC, Cellier C, Ludvigsson JF
Gastroenterology 2024 Jun;167(1):64-78. Epub 2024 Mar 7 doi: 10.1053/j.gastro.2024.02.044. PMID: 38460606
Cutaneous vasculitis in autoinflammatory diseases.
Chen KR
J Dermatol 2024 Feb;51(2):150-159. Epub 2023 Nov 13 doi: 10.1111/1346-8138.17030. PMID: 37955334Free PMC Article
Who to screen and how to screen for celiac disease.
Singh P, Singh AD, Ahuja V, Makharia GK
World J Gastroenterol 2022 Aug 28;28(32):4493-4507. doi: 10.3748/wjg.v28.i32.4493. PMID: 36157923Free PMC Article
AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease-Changing Utility of Serology and Histologic Measures: Expert Review.
Husby S, Murray JA, Katzka DA
Gastroenterology 2019 Mar;156(4):885-889. Epub 2018 Dec 19 doi: 10.1053/j.gastro.2018.12.010. PMID: 30578783Free PMC Article
Autoimmune hepatitis.
Longhi MS, Mieli-Vergani G, Vergani D
Curr Pediatr Rev 2014;10(4):268-74. doi: 10.2174/1573396310666141114230147. PMID: 25403636

Therapy

When Therapeutic IgA Antibodies Might Come of Age.
Sterlin D, Gorochov G
Pharmacology 2021;106(1-2):9-19. Epub 2020 Sep 18 doi: 10.1159/000510251. PMID: 32950975
Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial.
Chapman KR, Burdon JG, Piitulainen E, Sandhaus RA, Seersholm N, Stocks JM, Stoel BC, Huang L, Yao Z, Edelman JM, McElvaney NG; RAPID Trial Study Group
Lancet 2015 Jul 25;386(9991):360-8. Epub 2015 May 27 doi: 10.1016/S0140-6736(15)60860-1. PMID: 26026936
Immunodeficiency in chronic sinusitis: recognition and treatment.
Stevens WW, Peters AT
Am J Rhinol Allergy 2015 Mar-Apr;29(2):115-8. doi: 10.2500/ajra.2015.29.4144. PMID: 25785751
Autoimmune hepatitis.
Longhi MS, Mieli-Vergani G, Vergani D
Curr Pediatr Rev 2014;10(4):268-74. doi: 10.2174/1573396310666141114230147. PMID: 25403636
Autoimmune hepatitis.
Mieli-Vergani G, Heller S, Jara P, Vergani D, Chang MH, Fujisawa T, González-Peralta RP, Kelly D, Mohan N, Shah U, Murray KF
J Pediatr Gastroenterol Nutr 2009 Aug;49(2):158-64. doi: 10.1097/MPG.0b013e3181a1c265. PMID: 19561543

Prognosis

Serum anti-tissue transglutaminase IgA and prediction of duodenal villous atrophy in adults with suspected coeliac disease without IgA deficiency (Bi.A.CeD): a multicentre, prospective cohort study.
Ciacci C, Bai JC, Holmes G, Al-Toma A, Biagi F, Carroccio A, Ciccocioppo R, Di Sabatino A, Gingold-Belfer R, Jinga M, Makharia G, Niveloni S, Norman GL, Rostami K, Sanders DS, Smecuol E, Villanacci V, Vivas S, Zingone F; Bi.A.CeD study group
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1005-1014. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00205-4. PMID: 37696284
O- and N-Glycosylation of Serum Immunoglobulin A is Associated with IgA Nephropathy and Glomerular Function.
Dotz V, Visconti A, Lomax-Browne HJ, Clerc F, Hipgrave Ederveen AL, Medjeral-Thomas NR, Cook HT, Pickering MC, Wuhrer M, Falchi M
J Am Soc Nephrol 2021 Oct;32(10):2455-2465. Epub 2021 Jun 14 doi: 10.1681/ASN.2020081208. PMID: 34127537Free PMC Article
AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease-Changing Utility of Serology and Histologic Measures: Expert Review.
Husby S, Murray JA, Katzka DA
Gastroenterology 2019 Mar;156(4):885-889. Epub 2018 Dec 19 doi: 10.1053/j.gastro.2018.12.010. PMID: 30578783Free PMC Article
Adaptive diagnosis of coeliac disease.
Korponay-Szabó IR, Troncone R, Discepolo V
Best Pract Res Clin Gastroenterol 2015 Jun;29(3):381-98. Epub 2015 May 14 doi: 10.1016/j.bpg.2015.05.003. PMID: 26060104
Autoimmune hepatitis.
Longhi MS, Mieli-Vergani G, Vergani D
Curr Pediatr Rev 2014;10(4):268-74. doi: 10.2174/1573396310666141114230147. PMID: 25403636

Clinical prediction guides

Serum anti-tissue transglutaminase IgA and prediction of duodenal villous atrophy in adults with suspected coeliac disease without IgA deficiency (Bi.A.CeD): a multicentre, prospective cohort study.
Ciacci C, Bai JC, Holmes G, Al-Toma A, Biagi F, Carroccio A, Ciccocioppo R, Di Sabatino A, Gingold-Belfer R, Jinga M, Makharia G, Niveloni S, Norman GL, Rostami K, Sanders DS, Smecuol E, Villanacci V, Vivas S, Zingone F; Bi.A.CeD study group
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1005-1014. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00205-4. PMID: 37696284
O- and N-Glycosylation of Serum Immunoglobulin A is Associated with IgA Nephropathy and Glomerular Function.
Dotz V, Visconti A, Lomax-Browne HJ, Clerc F, Hipgrave Ederveen AL, Medjeral-Thomas NR, Cook HT, Pickering MC, Wuhrer M, Falchi M
J Am Soc Nephrol 2021 Oct;32(10):2455-2465. Epub 2021 Jun 14 doi: 10.1681/ASN.2020081208. PMID: 34127537Free PMC Article
Immunoglobulin A deficiency in children, an undervalued clinical issue.
Koenen MH, van Montfrans JM, Sanders EAM, Bogaert D, Verhagen LM
Clin Immunol 2019 Dec;209:108293. Epub 2019 Oct 31 doi: 10.1016/j.clim.2019.108293. PMID: 31678364
AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease-Changing Utility of Serology and Histologic Measures: Expert Review.
Husby S, Murray JA, Katzka DA
Gastroenterology 2019 Mar;156(4):885-889. Epub 2018 Dec 19 doi: 10.1053/j.gastro.2018.12.010. PMID: 30578783Free PMC Article
Autoimmune hepatitis.
Longhi MS, Mieli-Vergani G, Vergani D
Curr Pediatr Rev 2014;10(4):268-74. doi: 10.2174/1573396310666141114230147. PMID: 25403636

Recent systematic reviews

Defining the optimum strategy for identifying adults and children with coeliac disease: systematic review and economic modelling.
Elwenspoek MM, Thom H, Sheppard AL, Keeney E, O'Donnell R, Jackson J, Roadevin C, Dawson S, Lane D, Stubbs J, Everitt H, Watson JC, Hay AD, Gillett P, Robins G, Jones HE, Mallett S, Whiting PF
Health Technol Assess 2022 Oct;26(44):1-310. doi: 10.3310/ZUCE8371. PMID: 36321689Free PMC Article
A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).
Riaz IB, Faridi W, Patnaik MM, Abraham RS
Front Immunol 2019;10:777. Epub 2019 Apr 16 doi: 10.3389/fimmu.2019.00777. PMID: 31057537Free PMC Article

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      Related information in GTR
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      Clinical tests in GTR
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      Related Medical Subject Headings
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      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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