Talk:Severe congenital neutropenia

update

Several components of this article need updated. 1. The term, "congenital neutropenia" redirects to this page. One definitional concept arbitrarily restricts the use of "Kostmann syndrome" to autosomal recessive inheritance, and uses "severe combined neutropenia" (SCN) as an overarching term for Kostmann syndrome and autosomal dominant forms. Another approach uses "Kostmann syndrome" to cover all these. Both definitions should be mentioned, and one should be selected and used consistently in the text. 2. Although homozygous HAX1 (autosomal recessive inheritance) has been seen in some original Kostmann pedigrees there are autosomal dominant forms e.g ELANE which is mentioned, (formerly termed ELA2, but which unlike the implications in the text appears to be more common), as well as other genetic causes which are not mentioned: G6PC3, GFI1, SBDS, and WASP. Some content here is inconsistent with content at Granulocyte colony-stimulating factor receptor. 4. This article's treatment of the relevant elements of severity, chronology, other normal findings, and inheritance pattern is incomplete and confusing. 5. Although it is a contributing element, the claim of diagnosis by bone marrow examination is overstated. FeatherPluma (talk) 23:23, 22 June 2014 (UTC)