ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.1465A>G (p.Ser489Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University RCV002463983 SCV002758753 uncertain significance Immunodeficiency 15a 2022-10-17 criteria provided, single submitter clinical testing Patient suffered with recurrent and severe infections since early infancy and developed in adulthood a Rheumatoid Arthritis with poor response to several biological DMARDs. Immunology referral allowed a clinical diagnosis of Common Variable Immunodeficiency (CVID) not confirmed in her father carrying the same variant. Preliminary functional data indicated a delayed and reduced capacity of B lymphocytes and CD4 positive T cells in inducing IκBα degradation and p65 phosphorilation. Whether this patient’s functional deficiency is due to the underlying genetic defect or, alternatively, directly induced by Rituximab and other immunosuppressive treatments is a matter of concern.

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