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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: 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]

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

Recent clinical studies

Etiology

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon V, Deming C, Leiding JW, Arnold DE, Logan BR, Griffith LM, Petrovic A, Mousallem TI, Kapoor N, Heimall JR, Barnum JL, Kapadia M, Wright N, Rayes A, Chandra S, Broglie LA, Chellapandian D, Deal CL, Grunebaum E, Lim SS, Mallhi K, Marsh RA, Murguia-Favela L, Parikh S, Touzot F, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Kang EM, Malech HL, Segre JA, Bryant CE, Holland SM, Falcone EL
J Allergy Clin Immunol 2023 Dec;152(6):1619-1633.e11. Epub 2023 Sep 1 doi: 10.1016/j.jaci.2023.07.022. PMID: 37659505
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: 28785926Free PMC Article
Cryptosporidiosis in perspective.
Tzipori S
Adv Parasitol 1988;27:63-129. doi: 10.1016/s0065-308x(08)60353-x. PMID: 3289331Free PMC Article

Diagnosis

CD40 Ligand Deficiency.
Leite LFB, Máximo TA, Mosca T, Forte WCN
Allergol Immunopathol (Madr) 2020 Jul-Aug;48(4):409-413. Epub 2019 Dec 9 doi: 10.1016/j.aller.2019.08.005. PMID: 31831191
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
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: 27189754Free 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: 20572300Free PMC Article

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
Leiner's disease (erythroderma desquamativum): A review and approach to therapy.
Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
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: 20101521Free 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

Prognosis

Hyper IgE Syndromes.
Gracci S, Novelli T, D'Elios S, Bernardini R, Peroni D
Curr Pediatr Rev 2024;20(3):253-264. doi: 10.2174/1573396320666230912103124. PMID: 37702167
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: 28785926Free 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
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: 20572300Free PMC Article

Clinical prediction guides

Hyper IgE Syndromes.
Gracci S, Novelli T, D'Elios S, Bernardini R, Peroni D
Curr Pediatr Rev 2024;20(3):253-264. doi: 10.2174/1573396320666230912103124. PMID: 37702167
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
Banday AZ, Nisar R, Patra PK, Kaur A, Sadanand R, Chaudhry C, Bukhari STA, Banday SZ, Bhattarai D, Notarangelo LD
J Clin Immunol 2023 Dec 22;44(1):17. doi: 10.1007/s10875-023-01633-1. PMID: 38129705
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.
Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon V, Deming C, Leiding JW, Arnold DE, Logan BR, Griffith LM, Petrovic A, Mousallem TI, Kapoor N, Heimall JR, Barnum JL, Kapadia M, Wright N, Rayes A, Chandra S, Broglie LA, Chellapandian D, Deal CL, Grunebaum E, Lim SS, Mallhi K, Marsh RA, Murguia-Favela L, Parikh S, Touzot F, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Kang EM, Malech HL, Segre JA, Bryant CE, Holland SM, Falcone EL
J Allergy Clin Immunol 2023 Dec;152(6):1619-1633.e11. Epub 2023 Sep 1 doi: 10.1016/j.jaci.2023.07.022. PMID: 37659505
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
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: 20101521Free PMC Article

Recent systematic reviews

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
Banday AZ, Nisar R, Patra PK, Kaur A, Sadanand R, Chaudhry C, Bukhari STA, Banday SZ, Bhattarai D, Notarangelo LD
J Clin Immunol 2023 Dec 22;44(1):17. doi: 10.1007/s10875-023-01633-1. PMID: 38129705
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: 35984545Free 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

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