" /> Immunodeficiency 26 with or without Neurologic Abnormalities - CISMeF





Preferred Label : Immunodeficiency 26 with or without Neurologic Abnormalities;

NCIt synonyms : IMD26; DNA-PKcs Deficiency;

NCIt related terms : DNA PKcs deficiency;

NCIt definition : An autosomal recessive severe combined immunodeficiency caused by mutation(s) in the PRKDC gene, encoding DNA-dependent protein kinase catalytic subunit.;

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31/07/2025


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