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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | MYB |
Boaz Palterer gene: MYB was added gene: MYB was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: MYB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYB were set to Evans syndrome; Neutropenia; Autoimmune cytopenias; B cell lymphopenia Penetrance for gene: MYB were set to Incomplete Review for gene: MYB was set to GREEN Added comment: Aaron Boothby et al. presented ten heterozygous germline MYB variants in seven families and four unrelated singletons. The variants segregated with autoimmune cytopenias, including Evans syndrome, in three five-generation pedigrees. In our cohort of 41 carriers, 22 were affected by autoimmune cytopenias, while one had isolated B cell lymphopenia and neutropenia. https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.16/281957/MYB-Haploinsufficiency-Causes-Familial-Autoimmune Sources: Literature |
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