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.
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References
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Acknowledgments
We thank Genometri Biotechnology R&D Company for sequencing JAGN1 gene.
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Supplementary Fig. 1
Pedigree of the family; individual III-4 and III-6 are affected cases. II-5 is first degree cousin of II-6. (JPEG 46 kb)
Supplementary Fig. 2
T and B-cells proliferation assays showed normal responses compared to healthy control. (JPEG 78 kb)
Supplementary Fig. 3
Bone marrow aspiration showed maturation arrest at promyelocyte - myelocyte stage with few mature neutrophils (a) and mild nuclear dysplasia (b). (JPEG 71 kb)
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Baris, S., Karakoc–Aydiner, E., Ozen, A. et al. JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family. J Clin Immunol 35, 339–343 (2015). https://doi.org/10.1007/s10875-015-0156-2
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DOI: https://doi.org/10.1007/s10875-015-0156-2