Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.
Considerable progress has been made in recent years in understanding of the genetic basis for congenital neutropenia syndromes. With the advent of high-throughput genomic analyzing technologies, the underlying genetic causes of other congenital neutropenia syndromes are expected to be resolved in the near future. This knowledge will provide the foundation for genotype-phenotype correlations for infection susceptibility, response to therapy, and risk of malignant transformation, enabling optimal care for individual patients depending on their molecular pathophysiology. It is hoped that these investigations will enable the development of tailored molecular therapies to specifically correct the aberrant signaling cascades.
Department of Pediatrics and Adolescent Medicine, CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Medical University of Vienna, Lazarettgasse 14 AKH BT 25.3, A-1090 Vienna, Austria.
Kaan
K
Boztug
Christoph
C
Klein
D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency / Q000235:genetics; D000818:Animals; D000080984:Congenital Bone Marrow Failure Syndromes; D004268:DNA-Binding Proteins / Q000235:genetics; D005952:Glucose-6-Phosphatase / Q000235:genetics; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000209:etiology / Q000235:genetics; D012868:Skin Abnormalities / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics
D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C498275:GFI1 protein, human; C104759:HAX1 protein, human; D014157:Transcription Factors; D051316:Wiskott-Aldrich Syndrome Protein; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human