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Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases.

Authors :
Benhsaien I
Ailal F
Elazhary K
El Bakkouri J
Badou A
Bousfiha AA
Source :
Case reports in immunology [Case Reports Immunol] 2021 Jan 07; Vol. 2021, pp. 8819368. Date of Electronic Publication: 2021 Jan 07 (Print Publication: 2021).
Publication Year :
2021

Abstract

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.<br />Competing Interests: The authors declare that they have no commercial relationship or potential conflicts of interest related to the submission.<br /> (Copyright © 2021 Ibtihal Benhsaien et al.)

Details

Language :
English
ISSN :
2090-6609
Volume :
2021
Database :
MEDLINE
Journal :
Case reports in immunology
Publication Type :
Report
Accession number :
33505738
Full Text :
https://doi.org/10.1155/2021/8819368