immunodeficiency 98 with autoinflammation, X-linked
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
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