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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 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
Infectious purpura fulminans: diagnosis and treatment.
Smith OP, White B
Br J Haematol 1999 Feb;104(2):202-7. doi: 10.1046/j.1365-2141.1999.01186.x. PMID: 10050699
Advances in the diagnosis and treatment of primary immunodeficiency diseases.
Buckley RH
Arch Intern Med 1986 Feb;146(2):377-84. PMID: 3511876

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
Childhood Vasculitis.
Sawhney S
Indian J Pediatr 2024 Oct;91(10):1056-1064. Epub 2023 Dec 15 doi: 10.1007/s12098-023-04958-2. PMID: 38100070
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
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
Celiac disease and selective immunoglobulin A deficiency.
Cataldo F, Marino V, Bottaro G, Greco P, Ventura A
J Pediatr 1997 Aug;131(2):306-8. doi: 10.1016/s0022-3476(97)70172-0. PMID: 9290622

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
Childhood Vasculitis.
Sawhney S
Indian J Pediatr 2024 Oct;91(10):1056-1064. Epub 2023 Dec 15 doi: 10.1007/s12098-023-04958-2. PMID: 38100070
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

Therapy

Miller Fisher syndrome.
Gupta SK, Jha KK, Chalati MD, Alashi LT
BMJ Case Rep 2016 Oct 13;2016 doi: 10.1136/bcr-2016-217085. PMID: 27737870Free PMC Article
Different brands of intravenous immunoglobulin for primary immunodeficiencies: how to choose the best option for the patient?
Abolhassani H, Asgardoon MH, Rezaei N, Hammarstrom L, Aghamohammadi A
Expert Rev Clin Immunol 2015;11(11):1229-43. Epub 2015 Aug 14 doi: 10.1586/1744666X.2015.1079485. PMID: 26289377
Autoimmune hepatitis.
Longhi MS, Mieli-Vergani G, Vergani D
Curr Pediatr Rev 2014;10(4):268-74. doi: 10.2174/1573396310666141114230147. PMID: 25403636
Celiac disease and selective immunoglobulin A deficiency.
Cataldo F, Marino V, Bottaro G, Greco P, Ventura A
J Pediatr 1997 Aug;131(2):306-8. doi: 10.1016/s0022-3476(97)70172-0. PMID: 9290622
Measles lymphadenopathy.
Stejskal J
Ultrastruct Pathol 1980 Apr-Jun;1(2):243-7. doi: 10.3109/01913128009141421. PMID: 6262969

Prognosis

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
Different brands of intravenous immunoglobulin for primary immunodeficiencies: how to choose the best option for the patient?
Abolhassani H, Asgardoon MH, Rezaei N, Hammarstrom L, Aghamohammadi A
Expert Rev Clin Immunol 2015;11(11):1229-43. Epub 2015 Aug 14 doi: 10.1586/1744666X.2015.1079485. PMID: 26289377
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
Autoimmune hepatitis.
Longhi MS, Mieli-Vergani G, Vergani D
Curr Pediatr Rev 2014;10(4):268-74. doi: 10.2174/1573396310666141114230147. PMID: 25403636
Celiac disease and selective immunoglobulin A deficiency.
Cataldo F, Marino V, Bottaro G, Greco P, Ventura A
J Pediatr 1997 Aug;131(2):306-8. doi: 10.1016/s0022-3476(97)70172-0. PMID: 9290622

Clinical prediction guides

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
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
Autoimmune hepatitis.
Longhi MS, Mieli-Vergani G, Vergani D
Curr Pediatr Rev 2014;10(4):268-74. doi: 10.2174/1573396310666141114230147. PMID: 25403636
Celiac disease and selective immunoglobulin A deficiency.
Cataldo F, Marino V, Bottaro G, Greco P, Ventura A
J Pediatr 1997 Aug;131(2):306-8. doi: 10.1016/s0022-3476(97)70172-0. PMID: 9290622

Recent systematic reviews

Non-allergic Hypersensitivity Reactions to Immunoglobulin Preparations in Antibody Deficiencies: What Role for Anti-IgA IgG and Complement Activation?
Collet A, de Chambure DP, Moitrot E, Breyne G, Mirgot F, Rogeau S, Tronchon M, Nicolas A, Sanges S, Stabler S, Ledoult E, Terriou L, Launay D, Hachulla E, Labalette M, Dubucquoi S, Lefèvre G
Clin Rev Allergy Immunol 2024 Dec;67(1-3):47-57. Epub 2024 Oct 22 doi: 10.1007/s12016-024-09007-0. PMID: 39436576Free PMC Article
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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