Defining New Human Immunodeficiency and Immunodysregulation Disorders

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Besides unique patients with immunodeficiency and immunodysregulation disorders lacking known diagnoses, our intake includes patients with variants of autoimmune lymphoproliferative syndrome (ALPS) or caspase-8-deficiency state (CEDS), common variable immunodeficiency (CVID), X-linked lymphoproliferative syndrome (XLP), and Evans syndrome. We have evaluated 73 new patients and their relatives over the past year, for 200 cumulatively, using functional screening and gene sequencing to exclude known disease. About 20 are being more intensively studied using biochemical analyses and gene expression microarrays. These experiments have provided leads for sequencing of new candidate genes not previously associated with disease, which is currently in progress.