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Results 1 - 10 of 11 for Severe congenital neutropenia
  1. Severe congenital neutropenia 
    Severe congenital neutropenia is a condition that increases the risk of repeated infections in affected individuals. People with this condition have an abnormally ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  2. HAX1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hax1 - Genetics
  3. ELANE gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/elane - Genetics
  4. Cyclic neutropenia 
    ... ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood. 2007 Mar 1;109(5):1817-24. ... defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. Haematologica. 2005 Aug;90(8):1032-41. Citation ...
    https://medlineplus.gov/genetics/condition/cyclic-neutropenia - Genetics
  5. WAS gene 
    ... 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_ ...
    https://medlineplus.gov/genetics/gene/was - Genetics
  6. Wiskott-Aldrich syndrome 
    ... with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms and ... cause, Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia are sometimes collectively referred to as WAS-related ...
    https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome - Genetics
  7. TCIRG1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition Atp6i ATP6N1C ATP6V0A3 ...
    https://medlineplus.gov/genetics/gene/tcirg1 - Genetics
  8. CLPB deficiency 
    ... have no neurological problems, and although they have neutropenia, it does ... birth (congenital) or beginning in infancy.CLPB deficiency is associated ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  9. Dyserythropoietic anemia and thrombocytopenia 
    ... Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create ... congenital erythropoietic porphyria. Beta thalassemia is a condition that ...
    https://medlineplus.gov/...rythropoietic-anemia-and-thrombocytopenia - Genetics
  10. CLPB gene 
    ... Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe ... neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
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