U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Recent clinical studies

Etiology

Nguyen AT, Aquino MR
Allergy Asthma Proc 2024 Sep 1;45(5):310-316. doi: 10.2500/aap.2024.45.240052. PMID: 39294911
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: 37659505Free PMC Article
Proper SP, Lavery WJ, Bernstein JA
Allergy Asthma Proc 2020 Nov 1;41(Suppl 1):S03-S07. doi: 10.2500/aap.2020.41.200040. PMID: 33109317
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
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

Diagnosis

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

Therapy

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
Salzer U, Warnatz K, Peter HH
Arthritis Res Ther 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. PMID: 23043756Free PMC Article
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
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
Beal J, Flynn N
J Physicians Assoc AIDS Care 1995 Jan;2(1):19-22. PMID: 11362196

Prognosis

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

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
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
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: 37659505Free PMC Article
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
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

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
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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...