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Severe combined immunodeficiency due to IKK2 deficiency
rareSevere 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.
- Identifiers
- MONDO:0014267 OMIM:615592Orphanet:397787
- Causal genes
- IKBKB
- Also known as
- IMD15 · immunodeficiency 15 · immunodeficiency 15B · immunodeficiency type 15 · SCID due to IKK2 deficiency
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