Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the <i>WAS</i> gene, encoding the WASP protein. Disease data Klasyfikacja Disease Kod ORPHA 86788 Kod OMIM 300299 Kod ICD10 D70 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl