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native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>JAK3-deficient SCID is caused by mutations in the JAK3 gene. The protein produced from this gene helps regulate the growth and maturation of certain types of white blood cells (lymphocytes) called T cells and natural killer cells. In addition, the JAK3 protein is important for the normal maturation of another type of lymphocyte called B cells. T cells, B cells, and natural killer cells attack bacteria, viruses, and fungi, and help regulate the entire immune system.</p><p>Mutations in the JAK3 gene prevent the production of JAK3 protein or lead to production of a nonfunctional protein. A loss of functional JAK3 protein results in the absence of T cells and natural killer cells and a normal number of poorly functioning B cells. This shortage of functional lymphocytes causes people with JAK3-deficient SCID to be susceptible to infections.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes JAK3-deficient severe combined immunodeficiency?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"jak3-deficient-severe-combined-immunodeficiency","sourceDocuments":[{"name":"JAK3-deficient severe combined immunodeficiency","reviewed":"2017-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:35.219646+00:00","label":"Causes","pageSha256":"989835633c9d2fea80f355c1885f0beec56dba1dc760e54e317c012de12fada4","sourceUrl":"https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"JAK3-deficient severe combined immunodeficiency"},"schemaVersion":1}