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Gastrointestinal defect and immunodeficiency syndrome

MedGen UID:: 1708537
•Concept ID:: C5234880
•: Disease or Syndrome

Synonym:	Gastrointestinal defects and immunodeficiency syndrome

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	TTC7A, PI4KA

Monarch Initiative:	MONDO:0030831
OMIM® Phenotypic series:	PS243150

Definition

An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGastrointestinal defect and immunodeficiency syndrome
- CROGVGastrointestinal defects and immunodeficiency syndrome 1
- CROGVGastrointestinal defects and immunodeficiency syndrome 2

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Rare Non-Neoplastic Disorder
        Gastrointestinal defect and immunodeficiency syndrome
        Gastrointestinal defects and immunodeficiency syndrome 1
        Gastrointestinal defects and immunodeficiency syndrome 2

Professional guidelines

PubMed

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.

Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505

Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

Other Phenotypes and Treatment of Chronic Rhinosinusitis.

Naclerio RM, Baroody FM
J Allergy Clin Immunol Pract 2016 Jul-Aug;4(4):613-20. doi: 10.1016/j.jaip.2016.03.016. PMID: 27393776

See all (19)

Recent clinical studies

Etiology

Novel Genetic Discoveries in Primary Immunodeficiency Disorders.

Redmond MT, Scherzer R, Prince BT
Clin Rev Allergy Immunol 2022 Aug;63(1):55-74. Epub 2022 Jan 12 doi: 10.1007/s12016-021-08881-2. PMID: 35020168 Free PMC Article

Clinical characteristics of 140 patients infected with SARS-CoV-2 in Wuhan, China.

Zhang JJ, Dong X, Cao YY, Yuan YD, Yang YB, Yan YQ, Akdis CA, Gao YD
Allergy 2020 Jul;75(7):1730-1741. Epub 2020 Feb 27 doi: 10.1111/all.14238. PMID: 32077115

22q11.2 deletion syndrome and congenital heart disease.

Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433

Common Variable Immunodeficiency and Liver Involvement.

Song J, Lleo A, Yang GX, Zhang W, Bowlus CL, Gershwin ME, Leung PSC
Clin Rev Allergy Immunol 2018 Dec;55(3):340-351. doi: 10.1007/s12016-017-8638-z. PMID: 28785926 Free PMC Article

Infections and immunodeficiency in Down syndrome.

Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207 Free PMC Article

See all (151)

Diagnosis

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.

Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505

Common Variable Immunodeficiency and Liver Involvement.

Song J, Lleo A, Yang GX, Zhang W, Bowlus CL, Gershwin ME, Leung PSC
Clin Rev Allergy Immunol 2018 Dec;55(3):340-351. doi: 10.1007/s12016-017-8638-z. PMID: 28785926 Free PMC Article

Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

22q11.2 deletion syndrome.

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS
Nat Rev Dis Primers 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. PMID: 27189754 Free PMC Article

Small intestinal bacterial overgrowth syndrome.

Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300 Free PMC Article

See all (179)

Therapy

Gastrointestinal and Hepatic Manifestations of Chronic Granulomatous Disease.

Yang AH, Sullivan B, Zerbe CS, De Ravin SS, Blakely AM, Quezado MM, Marciano BE, Marko J, Ling A, Kleiner DE, Gallin JI, Malech HL, Holland SM, Heller T
J Allergy Clin Immunol Pract 2023 May;11(5):1401-1416. Epub 2023 Jan 13 doi: 10.1016/j.jaip.2022.12.039. PMID: 36646382

Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey.

Cattalini M, Della Paolera S, Zunica F, Bracaglia C, Giangreco M, Verdoni L, Meini A, Sottile R, Caorsi R, Zuccotti G, Fabi M, Montin D, Meneghel A, Consolaro A, Dellepiane RM, Maggio MC, La Torre F, Marchesi A, Simonini G, Villani A, Cimaz R, Ravelli A, Taddio A; Rheumatology Study Group of the Italian Pediatric Society
Pediatr Rheumatol Online J 2021 Mar 16;19(1):29. doi: 10.1186/s12969-021-00511-7. PMID: 33726806 Free PMC Article

Selective IgA deficiency.

Yel L
J Clin Immunol 2010 Jan;30(1):10-6. Epub 2010 Jan 26 doi: 10.1007/s10875-009-9357-x. PMID: 20101521 Free PMC Article

Whipple's disease.

Bai JC, Mazure RM, Vazquez H, Niveloni SI, Smecuol E, Pedreira S, Mauriño E
Clin Gastroenterol Hepatol 2004 Oct;2(10):849-60. doi: 10.1016/s1542-3565(04)00387-8. PMID: 15476147

AIDS-associated anorexia.

Beal J, Flynn N
J Physicians Assoc AIDS Care 1995 Jan;2(1):19-22. PMID: 11362196

See all (110)

Prognosis

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.

Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505

Common Variable Immunodeficiency and Liver Involvement.

Song J, Lleo A, Yang GX, Zhang W, Bowlus CL, Gershwin ME, Leung PSC
Clin Rev Allergy Immunol 2018 Dec;55(3):340-351. doi: 10.1007/s12016-017-8638-z. PMID: 28785926 Free PMC Article

Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A
Scand J Immunol 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. PMID: 27763681

Infections and immunodeficiency in Down syndrome.

Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207 Free PMC Article

Small intestinal bacterial overgrowth syndrome.

Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300 Free PMC Article

See all (83)

Clinical prediction guides

Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.

Sharma J, Jindal AK, Banday AZ, Kaur A, Rawat A, Singh S, Longhurst H
Clin Rev Allergy Immunol 2021 Jun;60(3):305-315. Epub 2021 Jan 14 doi: 10.1007/s12016-021-08835-8. PMID: 33442779

Clinical characteristics of 140 patients infected with SARS-CoV-2 in Wuhan, China.

Zhang JJ, Dong X, Cao YY, Yuan YD, Yang YB, Yan YQ, Akdis CA, Gao YD
Allergy 2020 Jul;75(7):1730-1741. Epub 2020 Feb 27 doi: 10.1111/all.14238. PMID: 32077115

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ
J Clin Immunol 2018 May;38(4):484-493. Epub 2018 May 9 doi: 10.1007/s10875-018-0496-9. PMID: 29744787

Infections and immunodeficiency in Down syndrome.

Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207 Free PMC Article

Selective IgA deficiency.

Yel L
J Clin Immunol 2010 Jan;30(1):10-6. Epub 2010 Jan 26 doi: 10.1007/s10875-009-9357-x. PMID: 20101521 Free PMC Article

See all (103)

Recent systematic reviews

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545 Free PMC Article

Patterns of Immune Dysregulation in Primary Immunodeficiencies: A Systematic Review.

Mauracher AA, Gujer E, Bachmann LM, Güsewell S, Pachlopnik Schmid J
J Allergy Clin Immunol Pract 2021 Feb;9(2):792-802.e10. Epub 2020 Nov 11 doi: 10.1016/j.jaip.2020.10.057. PMID: 33186766

See all (2)

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Gastrointestinal defect and immunodeficiency syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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