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GTR Home > Conditions/Phenotypes > Immunodeficiency 113 with autoimmunity and autoinflammation

Immunodeficiency 113 with autoimmunity and autoinflammation

Synonyms
Immunodeficiency 133 with autoimmunity and autoinflammation

Summary

Immunodeficiency-113 with autoimmunity and autoinflammation (IMD113) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. More variable systemic features may include celiac disease or enteropathy, ileus, nephropathy, eczema, and dermatomyositis. Additional features include facial dysmorphism, scoliosis, and poor wound healing. One patient with neurodevelopmental abnormalities has been reported. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages (Nunes-Santos et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARC16, IMD113, dJ127C7.3, p16-Arc, ARPC5
    Summary: actin related protein 2/3 complex subunit 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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