Genetic insights into congenital neutropenia.
Congenital neutropenia syndromes comprise a heterogeneous group of disorders leading to increased susceptibility to bacterial infections. Recent work has elucidated the molecular basis of several congenital neutropenia syndromes such as mutations in ELA2, HAX1, GF11, and WAS. In addition, a number of complex clinical syndromes associating congenital neutropenia have been recognized and elucidated on a genetic level, e.g. p14-deficiency or G6PC3-deficiency. The clinical and genetic findings of various neutropenia syndromes are being discussed.
Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany. klein.christoph@mh-hannover.de
Christoph
C
Klein
Karl
K
Welte
D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins / Q000235:genetics; D005952:Glucose-6-Phosphatase / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000151:congenital* / Q000235:genetics*; D019272:Leukocyte Elastase / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C498275:GFI1 protein, human; C104759:HAX1 protein, human; D011506:Proteins; D014157:Transcription Factors; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human; D019272:Leukocyte Elastase