| Definition: |
An immune system disease characterized by variable manifestations ranging from immunodeficiency, including recurrent respiratory infections and chronic fungal or viral infections often associated with lymphopenia and hypogammaglobulinemia, to features of a primary immune regulatory disorder, including autoimmunity, autoinflammation, lymphoproliferation, systemic lupus erythematosus, and EBV-associated hemophagocytic lymphohistiocytosis, that has_material_basis_in putative loss-of-function mutation in the IKZF2 gene on chromosome 2q34. |