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Severe congenital neutropenia
- ... the HAX1 gene have been found to cause severe congenital neutropenia, a condition characterized by a shortage (deficiency) of ... fighting infection. Most of the mutations that cause severe congenital neutropenia change single protein building blocks (amino acids) in ...
- ... the ELANE gene have been found to cause severe congenital neutropenia, a condition characterized by neutropenia beginning in infancy. ... inflammation, and other immune problems in people with severe congenital neutropenia. More About This Health Condition bone marrow serine ...
- ... cause, Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia are sometimes collectively referred to as WAS-related ... This Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition IMD2 WASP WASP_ ...
- ... This Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition Atp6i ATP6N1C ATP6V0A3 ...
- ... Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe ... neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. ...