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.
MONDO:0021094
immunodeficiency disease
is_a
IMD98
exact
X-linked immunodeficiency with autoinflammation
exact
immunodeficiency 98 with autoinflammation, X-linked
exact
inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8
exact