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| Autoimmune Lymphoproliferative Syndrome v1.8 | IKZF1 |
Peter McNaughton gene: IKZF1 was added gene: IKZF1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to PMID: 32654692 Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset; Immune dysregulation Review for gene: IKZF1 was set to GREEN Added comment: ~30% of patients present with ALPS like autoimmunity +/- lymphoproliferation. Sources: Literature |
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