Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
SASH3 deficiency
combined immunodeficiency
common variable immunodeficiency
genetics
inborn errors of immunity
mutation
primary immunodeficiencies
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2022
2022
Historique:
received:
22
02
2022
accepted:
16
03
2022
entrez:
25
4
2022
pubmed:
26
4
2022
medline:
27
4
2022
Statut:
epublish
Résumé
SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune dysregulation, associated with impaired TCR signaling and thymocyte survival in humans. The small number of patients reported to date showed recurrent sinopulmonary, cutaneous and mucosal infections, and autoimmune cytopenia. Here we describe an adult patient previously diagnosed with common variable immunodeficiency (CVID) due to low IgG and IgM levels and recurrent upper tract infections. Two separate, severe viral infections drew our attention and pointed to an underlying T cell defect: severe varicella zoster virus (VZV) infection at the age of 4 years and bilateral pneumonia due type A influenza infection at the age of 38. Genetic testing using an NGS-based custom-targeted gene panel revealed a novel hemizygous loss-of-function variant in the
Identifiants
pubmed: 35464398
doi: 10.3389/fimmu.2022.881206
pmc: PMC9027814
doi:
Substances chimiques
Vaccines
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
881206Informations de copyright
Copyright © 2022 Labrador-Horrillo, Franco-Jarava, Garcia-Prat, Parra-Martínez, Antolín, Salgado-Perandrés, Aguiló-Cucurull, Martinez-Gallo and Colobran.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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