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Immunodeficiency 94 with autoinflammation and dysmorphic facies

Summary

Immunodeficiency-94 with autoinflammation and dysmorphic facies (IMD94) is a systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. Intellectual development is normal and serum IgE is not elevated. The disease results from constitutive activation of the IL6 signaling cascade, resulting in immune dysregulation and a hyperinflammatory state (summary by Materna-Kiryluk et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD130, CDW130, GP130, HIES4, HIES4A, HIES4B, IL-6RB, IMD94, STWS2, sGP130, IL6ST
    Summary: interleukin 6 cytokine family signal transducer

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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