Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A)-Reference-Cited by-同舟云学术

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Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A)

Published:2024-05-31 Issue:2 Volume:13 Page:89-98
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Busolin Amelie¹,Vely Frederic²³,Eymard-Duvernay Gilles⁴,Barlogis Vincent⁵,Fabre Alexandre¹²³⁴⁵⁶

Affiliation:

1. APHM, Multidisciplinary Pediatrics Departement, La Timone Children's Hospital, Marseille, France.

2. Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.

3. APHM, Hôpital de la Timone, Immunology Department, Marseille Immunopôle, Marseille, France.

4. Transmissions Department, Airbus, Vitrolles, France.

5. Pediatric Haematology Department, Timone Enfant, APHM, Aix-Marseille University, Marseille, France.

6. Aix Marseille University, INSERM, MMG, Marseille, France.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Link

https://www.jstage.jst.go.jp/article/irdr/13/2/13_2023.01109/_pdf

Reference35 articles.

1. 1. Dallaire L, Perreault G. Hereditary multiple intestinal atresia. Birth Defects Orig Artic Ser. 1974; 10:259-264.

2. 2. Jardine S, Anderson S, Babcock S, et al. Drug screen identifies leflunomide for treatment of inflammatory bowel disease caused by TTC7A deficiency. Gastroenterology. 2020; 158:1000-1015.

3. 3. Chen R, Giliani S, Lanzi G, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013; 132:656-664.e17.

4. 4. Samuels ME, Majewski J, Alirezaie N, et al. Exome sequencing identifies mutations in the TTC7A gene in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet. 2013; 50:324-329.

5. 5. Avitzur Y, Guo C, Mastropaolo LA, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology. 2014; 146:1028-1039.

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