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severe combined immunodeficiency due to IKK2 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Uniprot Description An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells.
Mondo Term and Equivalent IDs
MONDO:0014267:  severe combined immunodeficiency due to IKK2 deficiency
Orphanet:397787: 
UMLS:C3810043: