Immunodeficiency 98 with autoinflammation, X-linked

An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.

Also known as: IMD98, X-linked immunodeficiency with autoinflammation, immunodeficiency 98 with autoinflammation, X-linked, inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8

0 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency 98 with autoinflammation, X-linked itself.