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Immunodeficiency 97 with autoinflammation

Summary

Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IMD97, PI3CG, PI3K, PI3Kgamma, PIK3, p110gamma, p120-PI3K, PIK3CG
    Summary: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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