Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Omenn syndrome
Primary immunodeficiencies
RAG1/2
SCID
T lymphocytes
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
03
02
2021
accepted:
20
04
2021
pubmed:
7
5
2021
medline:
4
2
2022
entrez:
6
5
2021
Statut:
ppublish
Résumé
Mutations in recombinase activating genes 1 and 2 (RAG1/2) result in human severe combined immunodeficiency (SCID). The products of these genes are essential for V(D)J rearrangement of the antigen receptors during lymphocyte development. Mutations resulting in null-recombination activity in RAG1 or RAG2 are associated with the most severe clinical and immunological phenotypes, whereas patients with hypomorphic mutations may develop leaky SCID, including Omenn syndrome (OS). A group of previously unrecognized clinical phenotypes associated with granulomata and/or autoimmunity have been described as a consequence of hypomorphic mutations. Here, we present six patients from unrelated families with missense variants in RAG1 or RAG2. Phenotypes observed in these patients ranged from OS to severe mycobacterial infections and granulomatous disease. Moreover, we report the first evidence of two variants that had not been associated with immunodeficiency. This study represents the first case series of RAG1- or RAG2-deficient patients from Mexico and Latin America.
Identifiants
pubmed: 33954879
doi: 10.1007/s10875-021-01052-0
pii: 10.1007/s10875-021-01052-0
pmc: PMC8319791
mid: NIHMS1727328
doi:
Substances chimiques
DNA-Binding Proteins
0
Homeodomain Proteins
0
Nuclear Proteins
0
RAG2 protein, human
0
RAG-1 protein
128559-51-3
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1291-1302Subventions
Organisme : Intramural NIH HHS
ID : ZIA AI001222
Pays : United States
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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