PMID- 31616743
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2326-3253 (Print)
IS  - 2326-3253 (Electronic)
IS  - 2326-3253 (Linking)
VI  - 6
IP  - 5
DP  - 2019 May
TI  - Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A 
      Deficiency.
PG  - e00061
LID - 10.14309/crj.0000000000000061 [doi]
LID - e00061
AB  - Tetratricopeptide repeat domain-7A (TTC7A) deficiency causing combined 
      immunodeficiency with inflammatory bowel disease (IBD) is rare. This case report 
      alerts physicians to the possibility of TTC7A deficiency causing combined 
      immunodeficiency with IBD and also highlights some of the current treatment 
      options. We describe a 19-year-old patient with a compound heterozygote TTC7A 
      mutation causing combined immunodeficiency, IBD, and multiple intestinal atresia. 
      Compound heterozygote TTC7A mutations are known to cause combined 
      immunodeficiency and IBD. Although rare, clinicians should be alerted to this 
      variant and should understand the general approach to treatment.
CI  - (c) 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The 
      American College of Gastroenterology.
FAU - Broome, David T
AU  - Broome DT
AD  - Internal Medicine Residency Program, Cleveland Clinic Foundation, Cleveland, OH.
FAU - Young, Andrew
AU  - Young A
AD  - Internal Medicine Residency Program, Cleveland Clinic Foundation, Cleveland, OH.
FAU - Torbic, Heather
AU  - Torbic H
AD  - Department of Pharmacy, Cleveland Clinic Foundation, Cleveland, OH.
FAU - Krishnan, Sudhir
AU  - Krishnan S
AD  - Pulmonary Medicine, Respiratory Institute, Cleveland Clinic Foundation, 
      Cleveland, OH.
FAU - Gordon, Ilyssa
AU  - Gordon I
AD  - Department of Anatomic Pathology, Cleveland Clinic Foundation, Cleveland, OH.
FAU - Lai, Keith
AU  - Lai K
AD  - Department of Anatomic Pathology, Cleveland Clinic Foundation, Cleveland, OH.
FAU - Rizk, Maged
AU  - Rizk M
AD  - Department of Gastroenterology and Hepatology, Cleveland Clinic Foundation, 
      Cleveland, OH.
FAU - Rieder, Florian
AU  - Rieder F
AD  - Department of Gastroenterology and Hepatology, Cleveland Clinic Foundation, 
      Cleveland, OH.
LA  - eng
PT  - Case Reports
DEP - 20190425
PL  - United States
TA  - ACG Case Rep J
JT  - ACG case reports journal
JID - 101638398
PMC - PMC6658069
EDAT- 2019/10/17 06:00
MHDA- 2019/10/17 06:01
PMCR- 2019/04/25
CRDT- 2019/10/17 06:00
PHST- 2018/06/27 00:00 [received]
PHST- 2019/01/31 00:00 [accepted]
PHST- 2019/10/17 06:00 [entrez]
PHST- 2019/10/17 06:00 [pubmed]
PHST- 2019/10/17 06:01 [medline]
PHST- 2019/04/25 00:00 [pmc-release]
AID - ACGCR-18-0461 [pii]
AID - 10.14309/crj.0000000000000061 [doi]
PST - epublish
SO  - ACG Case Rep J. 2019 Apr 25;6(5):e00061. doi: 10.14309/crj.0000000000000061. 
      eCollection 2019 May.