A newly found homozygous mutation in recombination activating gene 1 in a patient with leaky severe combined immunodeficiency disorder.
Mutation
RAG deficiency
SCID
Whole exome sequencing
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
01
05
2019
accepted:
08
08
2019
pubmed:
15
9
2019
medline:
24
4
2020
entrez:
15
9
2019
Statut:
ppublish
Résumé
The recombination activating genes, including RAG1 and RAG2, are essential for V(D)J somatic recombination in lymphocytes. Leaky severe combined immunodeficiency disorder (SCID) is characterized by normal or intermediate T cells and normal to absent B cells associated with partial T cell and B cell dysfunction. We present a newly found RAG1 deficiency in a 21-year-old boy with leaky SCID. Immunoglobulin levels, flow cytometry, and whole exome sequencing (WES) were evaluated. Flow cytometric analysis revealed a decreased number of CD3+, CD4+, and CD8+ T cells, and B cells whereas NK cell counts were normal. Immunoglobulin levels were also decreased. The WES revealed a newly found homozygous mutation of RAG1 gene (NM_000448: exon 2: c.C2275T). Atypical features, including leukopenia, candidiasis, and low lymphocyte counts in patients with late-onset combined immunodeficiency disorders (CID) such as leaky SCID due to RAG1 deficiency may result in misdiagnosis and inadequate therapy instead of adopting the curative hematopoietic stem cell transplantation in these patients.
Identifiants
pubmed: 31520268
doi: 10.1007/s11033-019-05031-y
pii: 10.1007/s11033-019-05031-y
doi:
Substances chimiques
Homeodomain Proteins
0
RAG-1 protein
128559-51-3
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
6571-6575Références
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