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| Bone Marrow Failure v1.92 | FLT3LG | Ain Roesley Marked gene: FLT3LG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.92 | FLT3LG | Ain Roesley Gene: flt3lg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.92 | FLT3LG |
Ain Roesley gene: FLT3LG was added gene: FLT3LG was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLT3LG were set to 38701783 Phenotypes for gene: FLT3LG were set to Increased susceptibility to infections Review for gene: FLT3LG was set to RED gene: FLT3LG was marked as current diagnostic Added comment: 3x sibs from a consanguineous family with a homozygous frameshift variant p.(Ser118Alafs*23) recurrent infections and hypoplastic bone marrow with marked reduction in HPSCs KO mice recapitulated BM findings over a period of 5 (P1), 9 (P2), and 19 (P3) years of follow-up, all 3 were found to have moderate anaemia. Total platelet counts and morphology decreased in 2 siblings. Total WBC oscillated between low and normal Eosinophils, basophils were in normal range Neutrophils were in the lower part of the control range, ocassiannly lower total lymphocyte counts were normal Sources: Literature |
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