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GTR Home > Conditions/Phenotypes > Joint contractures, osteochondromas, and B-cell lymphoma

Joint contractures, osteochondromas, and B-cell lymphoma

Synonyms
Joint contracture, osteochondromas, and B-cell lymphoma; NFAT1 DEFICIENCY

Summary

Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies. Despite the abnormalities in immunologic cells, immunodeficiency is not a feature of the disease, suggesting that it can be classified as a 'primary immune regulatory disorder' (Sharma et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: JCOSL, NFAT1, NFATP, NFATC2
    Summary: nuclear factor of activated T cells 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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