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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

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: 35020168Free PMC Article
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
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Biliary manifestations of systemic diseases.
Babakhanian Z, Donovan JA
Gastrointest Endosc Clin N Am 2013 Apr;23(2):333-46. Epub 2013 Jan 30 doi: 10.1016/j.giec.2012.12.001. PMID: 23540964
Bloom's syndrome.
Gretzula JC, Hevia O, Weber PJ
J Am Acad Dermatol 1987 Sep;17(3):479-88. doi: 10.1016/s0190-9622(87)70233-3. PMID: 3655026

Diagnosis

Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
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
Bloom's syndrome.
Gretzula JC, Hevia O, Weber PJ
J Am Acad Dermatol 1987 Sep;17(3):479-88. doi: 10.1016/s0190-9622(87)70233-3. PMID: 3655026

Therapy

Differential diagnosis of food protein-induced enterocolitis syndrome.
Fiocchi A, Claps A, Dahdah L, Brindisi G, Dionisi-Vici C, Martelli A
Curr Opin Allergy Clin Immunol 2014 Jun;14(3):246-54. doi: 10.1097/ACI.0000000000000057. PMID: 24739227Free PMC Article
Noncirrhotic portal hypertension in HIV infection.
Vispo E, Morello J, Rodriguez-Novoa S, Soriano V
Curr Opin Infect Dis 2011 Feb;24(1):12-8. doi: 10.1097/QCO.0b013e3283420f08. PMID: 21157331
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
Thalidomide in gastrointestinal disorders.
Bousvaros A, Mueller B
Drugs 2001;61(6):777-87. doi: 10.2165/00003495-200161060-00006. PMID: 11398909
Enteral nutrition in the pediatric population.
Marchand V, Baker SS, Baker RD
Gastrointest Endosc Clin N Am 1998 Jul;8(3):669-703. PMID: 9654575

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
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
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
Bloom's syndrome.
Gretzula JC, Hevia O, Weber PJ
J Am Acad Dermatol 1987 Sep;17(3):479-88. doi: 10.1016/s0190-9622(87)70233-3. PMID: 3655026

Clinical prediction guides

Death receptors 4/5 mediate tumour sensitivity to natural killer cell-mediated cytotoxicity in mismatch repair deficient colorectal cancer.
Yang L, Yi J, He W, Kong P, Xie Q, Jin Y, Xiong Z, Xia L
Br J Cancer 2024 Jul;131(2):334-346. Epub 2024 May 25 doi: 10.1038/s41416-024-02673-z. PMID: 38796599Free PMC Article
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
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S
J Clin Immunol 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. PMID: 38129713
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: 38129705Free PMC Article
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article

Recent systematic reviews

Thymus transplantation for DiGeorge Syndrome: a systematic review.
Ahmed HS, Dias AF, Pulkurthi SR
Pediatr Surg Int 2025 Feb 17;41(1):82. doi: 10.1007/s00383-025-05976-1. PMID: 39960552
The Upper-gastrointestinal Endoscopic Findings of People Living with HIV: A Systematic Review.
SeyedAlinaghi S, Janfaza N, Mirzapour P, Siami H, Ali Z, Matini P, Karimi E, Mahrokhi S, Varshochi S, Sanaati F, Fathi Amrollah M, Saki S, Mehraeen E, Dadras O
Curr HIV Res 2024;22(1):16-26. doi: 10.2174/011570162X271270231215101009. PMID: 38279732
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: 38129705Free PMC Article
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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