PMID- 37461086
OWN - NLM
STAT- MEDLINE
DCOM- 20230719
LR  - 20230720
IS  - 1752-1947 (Electronic)
IS  - 1752-1947 (Linking)
VI  - 17
IP  - 1
DP  - 2023 Jul 18
TI  - A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel 
      disease: a case report of twin brothers.
PG  - 307
LID - 10.1186/s13256-023-04049-y [doi]
LID - 307
AB  - BACKGROUND: X-linked severe combined immunodeficiency is caused by IL2RG gene 
      mutation. Several variations have been identified in the IL2RG gene, which 
      potentially can prevent the production of nonfunctional proteins. Herein, a novel 
      X-linked variant in the IL2RG gene is reported in twin brothers, associated with 
      inflammatory bowel symptoms. CASE PRESENTATION: The patients were 26-month-old 
      monozygotic twin middle-eastern males with failure to thrive and several 
      inpatient admissions due to severe chronic nonbloody diarrhea that started at the 
      age of 12 months. Pancolitis was revealed after performing upper and lower 
      gastrointestinal endoscopies on the twin with more severe gastrointestinal 
      symptoms. Flow cytometric evaluation of the peripheral blood cells showed low 
      levels of CD4+ cells in both patients. Next generation sequencing-based gene 
      panel test results of the two patients proved a novel heterozygous missense 
      X-linked IL2RG mutation (70330011 A > G, p.Trp197Arg) in one of the patients, 
      which was predicted to be deleterious (CADD score of 28), which soon after was 
      confirmed by Sanger segregation in his twin brother. Both parents were wild types 
      and had never experienced similar symptoms. The patients received an human 
      leukocyte antigen (HLA)-matched cord blood transplant. The twin with more severe 
      gastrointestinal symptoms died 1 month after transplantation. In his brother, 
      watery diarrhea eventually subsided after transplantation. CONCLUSION: Intestinal 
      involvement in X-linked severe combined immunodeficiency is a rare presentation 
      that might be neglected. The increasing availability of genetic screening tests 
      worldwide could be helpful for early detection of such lethal primary 
      immunodeficiency diseases and in implementing effective interventions to handle 
      the severe outcomes.
CI  - (c) 2023. The Author(s).
FAU - Rayzan, Elham
AU  - Rayzan E
AD  - International Hematology/Oncology of Pediatrics' Experts (IHOPE), Universal 
      Scientific Education and Research Network (USERN), Boston, MA, USA.
AD  - Research Center for Immunodeficiencies, Pediatrics Center of Excellence, , 
      Children's Medical Center Hospital, Tehran University of Medical Science, Dr 
      Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.
FAU - Sadeghalvad, Mona
AU  - Sadeghalvad M
AD  - Research Center for Immunodeficiencies, Pediatrics Center of Excellence, , 
      Children's Medical Center Hospital, Tehran University of Medical Science, Dr 
      Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.
AD  - Department of Immunology, School of Medicine, Tehran University of Medical 
      Sciences, Tehran, Iran.
FAU - Shahkarami, Sepideh
AU  - Shahkarami S
AD  - Dr. Von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, 
      Germany.
AD  - Medical Genetics Network (MeGeNe), Universal Scientific Education and Research 
      Network (USERN), Munich, Germany.
FAU - Zoghi, Samaneh
AU  - Zoghi S
AD  - Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
FAU - Aryan, Zahra
AU  - Aryan Z
AD  - Department of Emergency Medicine, Massachusetts General Hospital, Harvard Medical 
      School, Boston, USA.
FAU - Mahdaviani, Seyed Alireza
AU  - Mahdaviani SA
AD  - Pediatric Respiratory Disease Research Center, National Research Institute of 
      Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical 
      Sciences, Tehran, Iran.
FAU - Boztug, Kaan
AU  - Boztug K
AD  - Department of Pediatric Hematology and Oncology, St. Anna Children's Hospital, 
      Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
FAU - Rezaei, Nima
AU  - Rezaei N
AD  - Research Center for Immunodeficiencies, Pediatrics Center of Excellence, , 
      Children's Medical Center Hospital, Tehran University of Medical Science, Dr 
      Qarib St, Keshavarz Blvd, Tehran, 14194, Iran. rezaei_nima@tums.ac.ir.
AD  - Department of Immunology, School of Medicine, Tehran University of Medical 
      Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20230718
PL  - England
TA  - J Med Case Rep
JT  - Journal of medical case reports
JID - 101293382
RN  - 0 (IL2RG protein, human)
RN  - 0 (Interleukin Receptor Common gamma Subunit)
SB  - IM
MH  - Male
MH  - Humans
MH  - Infant
MH  - Child, Preschool
MH  - *X-Linked Combined Immunodeficiency Diseases/genetics
MH  - Siblings
MH  - Mutation
MH  - *Inflammatory Bowel Diseases/genetics
MH  - Diarrhea/genetics
MH  - Interleukin Receptor Common gamma Subunit/genetics
PMC - PMC10353185
OTO - NOTNLM
OT  - Case report
OT  - IL2RG
OT  - Immunodeficiency
OT  - Inflammatory bowel disease
OT  - SCID
COIS- The authors have no competing interest to declare.
EDAT- 2023/07/18 01:09
MHDA- 2023/07/19 06:43
PMCR- 2023/07/18
CRDT- 2023/07/17 23:49
PHST- 2021/09/17 00:00 [received]
PHST- 2023/06/19 00:00 [accepted]
PHST- 2023/07/19 06:43 [medline]
PHST- 2023/07/18 01:09 [pubmed]
PHST- 2023/07/17 23:49 [entrez]
PHST- 2023/07/18 00:00 [pmc-release]
AID - 10.1186/s13256-023-04049-y [pii]
AID - 4049 [pii]
AID - 10.1186/s13256-023-04049-y [doi]
PST - epublish
SO  - J Med Case Rep. 2023 Jul 18;17(1):307. doi: 10.1186/s13256-023-04049-y.