A family of severe congenital neutropenia with −199c to a substitution inELA2 promoter

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

a comparison of teachers and supervisors, with respect to teacher efficacy and reflection

supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...

15 صفحه اول

Laryngeal stenosis in a patient with severe congenital neutropenia.

OBJECTIVES/HYPOTHESIS We report the first case of laryngeal stenosis with granuloma in a patient with severe congenital neutropenia (SCN). STUDY DESIGN Case report and retrospective review. METHODS Review of medical records. RESULTS A 6-year-old female who was diagnosed with SCN presented with a cough and wheezing. An endoscopic study revealed laryngeal stenosis with granuloma. Tracheotom...

متن کامل

prevention and control of infections in patients with severe congenital neutropenia; a follow up study

severe congenital neutropenia is one of primary immunodeficiency disorders that characterized by severe neutropenia and is associated with severe systemic bacterial infections from  early  infancy.  granulocyte  colony  stimulating  factor  (gcsf)  is  clinically  used  as  a treatment for congenital and acquired neutropenia. the aim of this study was evaluation of gcsf (pd- grastim) in treatme...

متن کامل

Severe congenital neutropenia: case report

Introduction Neutropenia is defined in the literature as absolute neutrophil counts in peripheral blood of less than 1500 cells/mm3 in more than one year old and less than 2000cells/mm3 in children in the first year old of life. Neutropenia is classified as mild, moderate or severe, and may be congenital or acquired, persistent or not. Kostmann syndrome is a severe neutropenia, the incidence va...

متن کامل

Granulopoiesis in severe congenital neutropenia.

The pathogenesis of the granulopoietic failure in three children with severe congenital neutropenia was studied. Mature neutrophils were absent from both peripheral blood and bone marrow. Assay of bone marrow granulocyte colony-forming cells (CFU-C) in a methylcellulose tissue culture system using colony-stimulating activity (CSA) from peripheral blood leukocytes demonstrated normal or increase...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: American Journal of Hematology

سال: 2006

ISSN: 0361-8609,1096-8652

DOI: 10.1002/ajh.20637