A germline mutation in KIT in familial diffuse cutaneous mastocytosis
نویسندگان
چکیده
منابع مشابه
A germline mutation in KIT in familial diffuse cutaneous mastocytosis.
M astocytosis (MIM 154800) is a group of rare disorders which have in common an abnormal accumulation of mast cells in specific organs, including gastrointestinal tract, bone marrow, liver, spleen, lymph nodes, and skin, which is the most frequently affected organ. Based on the pattern of involvement, cutaneous mastocytosis (CM) is classified into solitary mastocytoma, urticaria pigmentosa, tel...
متن کاملA new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.
Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin. We report a Chinese family with indolent DCM, and detection of a new germline KIT mutation located in the fifth immunoglobulin-like loop of the KIT protein, which probably results in a gain-of-function effect and consequent overactivation of mast c...
متن کامل[Diffuse cutaneous mastocytosis].
1 Van Dongen JJM, Adriaansen HJ, Hooijkaas H. Immunophenotyping of leukaemias and non-Hodgkin's lymphomas. Immunological markers and their CD codes. NethJ Med 1988; 33: 298-314. 2 Van Dongen JJM, Adriaansen HJ, Hooijkaas H. Immunoglobuline genen en T-cel-receptor-genen en de expressie van immunologische markers. II. Immunoiogische diagnostiek van maligne lymfatische ziekten. Ned Tijdschr Genees...
متن کاملSomatic D816V KIT mutation in a case of adult-onset familial mastocytosis.
Rank # Genes Highest OR (L95-U95) Smallest P-value # Genes Highest OR (L95-U95) Smallest P-value # Genes Highest OR (L95-U95) Smallest P-value 1 IRAK1 0.70 (0.55-0.90) 0.006 IRAK1 0.73 (0.54-0.99) 0.042 IRAK1 0.50 (0.28-0.86) 0.013 2 MKK3 1.28 (1.10-1.50) 0.002 IRAKM 0.53 (0.31-0.90) 0.019 SIGIRR 0.54 (0.35-0.85) 0.008 3 ERK2 1.22 (1.05-1.42) 0.010 RIP1 1.49 (1.04-2.12) 0.012 TRAF6 0.65 (0.46-0...
متن کاملDiffuse cutaneous mastocytosis with generalized bullae.
We report on a 9-month-old female infant with multiple tense bullae and erosions covering the entire body, including the face, scalp, and trunk. The histopathological examination revealed sub-epidermal bullae with a dense dermal cellular infiltrate. The infiltrate was identified as a collection of mast cells using toluidine blue and Giemsa stains. The direct immunofluorscence was negative. A di...
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: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.015156