Clinical implications ofELA2-,HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia
نویسندگان
چکیده
منابع مشابه
G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.
X-linked neutropenia (XLN) is a rare form of Congenital Neutropenia (CN) caused by inherited gain-of-function mutations of WAS. Here we report 2 cases of the original L270P X-linked neutropenia kindred that evolved to MDS or AML, with acquisition of G-CSFR (CSF3R) mutations and monosomy 7. Thus, leukemic transformation with acquisition of CSF3R mutations and monosomy 7 is not restricted to clas...
متن کاملSignificance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia.
receiving bone marrow from unrelated donors followed by an intensified GVHD prophylaxis showed CMV PCR positivity even sooner after transplantation, but again PCR-based antiviral therapy was found to be safe with only 1 patient developing early fatal CMV disease as already reported previously.2 But this group seemed to be at an increased risk for late onset CMV disease most likely due to a dela...
متن کاملHAX1 mutation in an infant with severe congenital neutropenia.
Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated matur...
متن کاملIn vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia.
Severe congenital neutropenia (CN) is a rare bone marrow failure syndrome with a high incidence of acute leukemia. In previous studies, we could show that point mutations in the gene for the granulocyte colony-stimulating factor (G-CSF) receptor CSF3R are a highly predictive marker for leukemic development in CN patients. To find out at which stage of hematopoietic development these mutations e...
متن کاملNovel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
We read with interest the recent perspective article by Klein. 1 Genetic analysis in individuals with severe congenital neutropenia (SCN) indicates that 60% of cases were attributable to heterozygous mutation in ELA2 gene encoding neutrophil elastase. 2 Homozygous mutation in HAX1 gene has been identified in patients with autosomal recessive form of SCN (Kostmann syndrome). 3 Patients with ELA2...
متن کاملذخیره 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: British Journal of Haematology
سال: 2009
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2008.07425.x