two cases of syndromic neutropenia with a report of novel mutation in g6pc3
نویسندگان
چکیده
severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with persistent severe neutropenia, recurrent infections and maturation arrest at promyelocyte-myelocyte stage in their bone marrow were assessed in this study. both patients showed structural heart disease and one of them also showed urogenital anomaly. sequence analyses of g6pc3 in 2 patients revealed two different homozygous mutations, one in exon 6 (asn 313 fs), and the other in exon 3 (ser 139 met), the latter is a new mutation which has not been reported in previous studies. it can be concluded that g6pc3 is one of the responsible gene for scn in iranian patients. based on the results, a new mutation in g6pc3 observed in one patient.
منابع مشابه
Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR. Also, recently G6PC3 as a rare gene in SCN has been reported. Patients with G6PC3 often have cardiac and/or urogenital malformations. Two patients with persistent severe neutropenia, recurrent infections and maturation arrest at pr...
متن کاملA report of two cases of pyknodysostosis in two children
pyknodysostosis is a rare bone disease characterzed with short stature,wide fontaneles,small chin,hyperdensity of bones,erosion of tufts of the disatl phalanges,and narrowing of the mandibular angle. pyknodysostosis is inheritted as an autosomal recessive disease and may be seen in both sexes at any age.the patients have normal life span.short stature and bone fractures are their major problems...
متن کاملa cross-comparative dtudy between two textbook series in terms of the presentation of politeness
چکیده ندارد.
15 صفحه اولMesenchymal Chondrosarcoma: A Report of Two Cases with Immunohistochemical Study
Mesenchymal chondrosarcoma (MC) is an uncommon tumor with an aggressive behaviour. We present two cases of MC. The first one is a unique case of MC of the maxilla metastasized from the clavicle. The second describes MC in the mandible with extensive involvement of the condyle. A 31-year-old male and a 22-year-old male presented to Saveetha Dental College, with a 2-month history of progressiv...
متن کاملReport of Two Cases of Bembay Phenotype in a Family
This is a report about two sisters whose red cells were grouped as 0, but their father was grouped as AB and their mother was groupe as O. These two sisters were Bombay phenotype it means they were homozygous for and inactive allele (amorph) H. When H is not formed the enzymes determined by A and B genes have no substrate on which to act, so that hh persons can not make the A or B antigen if th...
متن کاملHarlequin Ichthyosis: A report of two cases
Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
iranian journal of allergy, asthma and immunologyجلد ۱۰، شماره ۳، صفحات ۲۲۷-۲۳۰
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023