KEGG   DISEASE: Gastrointestinal defects and immunodeficiency syndrome
Entry
H02331                      Disease                                
Name
Gastrointestinal defects and immunodeficiency syndrome;
Combined immunodeficiency with multiple intestinal atresia
Description
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the digestive tract
    LB1Y  Other specified structural developmental anomalies of the digestive tract
     H02331  Gastrointestinal defects and immunodeficiency syndrome
Gene
(GIDID1) TTC7A [HSA:57217] [KO:K21843]
(GIDID2) PI4KA [HSA:5297] [KO:K00888]
Other DBs
ICD-11: LB1Y
ICD-10: Q82.8
OMIM: 243150 619708
Reference
PMID:24417819
  Authors
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM
  Title
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
  Journal
Gastroenterology 146:1028-39 (2014)
DOI:10.1053/j.gastro.2014.01.015
Reference
PMID:23830146 (GIDID1)
  Authors
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD
  Title
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
  Journal
J Allergy Clin Immunol 132:656-664.e17 (2013)
DOI:10.1016/j.jaci.2013.06.013
Reference
PMID:34415310 (GIDID2)
  Authors
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL
  Title
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
  Journal
Brain 144:3597-3610 (2021)
DOI:10.1093/brain/awab313
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