Paeds Vivas · rheumatology-musculoskeletal-and-sports
Primary immunodeficiency with rheumatic manifestations — branching viva
Branching viva on the rheumatic-immune overlaps in children: recognising that autoimmunity and immunodeficiency are two faces of one failing immune system, gating the overlap, classifying by the immune arm into the four patterns (CVID arthritis, CGD colitis, classical complement-deficient lupus, and immune dysregulation or Blau syndrome), confirming each with its matched test, and treating both the immune defect and the rheumatic manifestation in parallel while deferring biologics and live vaccines until the immune screen is back.
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Opening question
Take me through your framework when a child presents with a symmetric polyarthritis that coexists with recurrent infection, chronic diarrhoea, and autoimmune cytopenia. Why are autoimmunity and immunodeficiency two faces of one failing immune system, and what is the threat gate that earns an immune work-up? [3] [1]
You have read the opening of this viva. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.
References8Show ledgerHide ledger
- [1]Bousfiha A, Moundir A, Tangye SG, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol, 2022.PMID 36198931
- [3]Köstel Bal S, Pazmandi J, Boztug K, et al. Rheumatological manifestations in inborn errors of immunity. Pediatr Res, 2020.PMID 31581173
- [4]Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore), 2000.PMID 10844935
- [5]Kang EM, Marciano BE, DeRavin S, et al. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol, 2011.PMID 21497887
- [7]Odnoletkova I, Kindle G, Quinti I, et al. The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. Orphanet J Rare Dis, 2018.PMID 30419968
- [8]Ameratunga R, Gillis D, Steele R. Diagnostic criteria for common variable immunodeficiency disorders. J Allergy Clin Immunol Pract, 2016.PMID 27587325
- [9]Lintner KE, Wu YL, Yang Y, et al. Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune Diseases. Front Immunol, 2016.PMID 26913032
- [10]Walport MJ. Complement. First of two parts. N Engl J Med, 2001.PMID 11287977