title: JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.
abstract: 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.
authors: Division of Pediatric Allergy and Immunology, Research and Training Hospital, Marmara University, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey, safabaris@hotmail.com.
authors: S
authors: S
authors: Baris
authors: E
authors: E
authors: Karakoc-Aydiner
authors: A
authors: A
authors: Ozen
authors: K
authors: K
authors: Delil
authors: A
authors: A
authors: Kiykim
authors: I
authors: I
authors: Ogulur
authors: I
authors: I
authors: Baris
authors: I B
authors: IB
authors: Barlan
mesh_terms: D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D035781:Siblings
chemical_list: C000594489:JAGN1 protein, human; D008565:Membrane Proteins