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Results 1 - 5 of 5 for Severe congenital neutropenia
  1. ... 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 ...
  2. ... 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 ...
  3. ... 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_ ...
  4. ... This Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition Atp6i ATP6N1C ATP6V0A3 ...
  5. ... Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe ... neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. ...