Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity, T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868, AR hyperimmunoglobulin E syndrome, Combined immunodeficiency, Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease, Immunodeficiencies affecting cellular and humoral immunity |