GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental...
50 KB (5,784 words) - 15:23, 5 March 2024
termed GATA2 deficiency. Less commonly, these disorders are associated with non-familial (i.e. sporadic or acquired) GATA inactivating mutations. GATA2 deficiency...
34 KB (4,038 words) - 23:30, 21 June 2024
Emberger syndrome (category Transcription factor deficiencies)
of GATA2 inactivating mutations into a single pleotropic genetic disorder termed GATA2 deficiency, GATA2 haploinsufficiency, or the GATA2 deficiency syndrome...
22 KB (2,579 words) - 15:05, 25 September 2021
and are not inclined to degenerate into acute myelogenous leukemia. GATA2 deficiency is a grouping of several disorders caused by common defect, viz., familial...
20 KB (1,976 words) - 22:07, 2 December 2023
Myelodysplastic syndrome (section GATA2 deficiency)
disease state. GATA2 deficiency is a group of disorders caused by a defect, familial, or sporadic inactivating mutations, in one of the two GATA2 genes. These...
59 KB (6,328 words) - 03:01, 1 July 2024
levels of GATA2 are deficient and over time individuals develop hematological, immunological, lymphatic, and other disorders. GATA2 deficiency-induced defects...
55 KB (5,862 words) - 20:27, 8 July 2024
MonoMAC (category Transcription factor deficiencies)
that groups these presentations together into a single disease termed GATA2 deficiency. These autosomal dominant mutations are known or presumed to cause...
9 KB (925 words) - 19:29, 1 October 2022
levels of GATA2 are deficient and individuals develop over time hematological, immunological, lymphatic, and/or other disorders. GATA2 deficiency-induced...
72 KB (9,516 words) - 20:13, 21 May 2024
factor, and thereby to a rare autosomal dominant genetic disease, GATA2 deficiency. This disease is associated with a highly variable set of disorders...
25 KB (2,922 words) - 14:19, 29 August 2023
syndrome Congenital immune deficiencies, e.g. ELA2 mutation, GATA2 deficiency Barth syndrome Copper deficiency Vitamin B12 deficiency Pearson syndrome Some...
33 KB (3,338 words) - 23:01, 16 May 2024