1.
Allergy
; 78(7): 2052-2055, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36872560
2.
J Clin Immunol
; 35(4): 339-43, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25851723
RESUMO
Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in neutrophil survival. Here, we report two siblings with a homozygous mutation in JAGN1 gene, exhibiting multisystemic involvement.