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| Combined Immunodeficiency v1.125 | ASXL1 | Zornitza Stark Marked gene: ASXL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.125 | ASXL1 | Zornitza Stark Gene: asxl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.125 | ASXL1 |
Zornitza Stark gene: ASXL1 was added gene: ASXL1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: ASXL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASXL1 were set to 40742536 Phenotypes for gene: ASXL1 were set to Combined immunodeficiency, MONDO:0015131, ASXL1-related Review for gene: ASXL1 was set to RED Added comment: Single individual with biallelic variants reported. The patient had a history of haematologic abnormalities and viral-associated complications, including chronic macrocytosis, persistent vaccine-strain rubella granulomas, and EBV-associated Hodgkin lymphoma. Immunophenotyping revealed loss of B cells, hypogammaglobulinemia, and impairments in cytotoxic T and NK cell populations. T cells exhibited skewing toward an exhausted memory phenotype, global DNA methylation loss, and increased epigenetic aging. These aberrations were ameliorated by wild-type ASXL1 transduction. Note mono allelic variants are associated with Bohring Opitz syndrome and somatic variants are associated with clonal haematopoiesis. Sources: Literature |
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