Primary immunodeficiency with rheumatic manifestations

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Target exams

Red flags

• A child with juvenile-idiopathic-arthritis-like polyarthritis who also has recurrent sinopulmonary infection, chronic diarrhoea, or low immunoglobulins — consider common variable immunodeficiency
• Granulomatous colitis indistinguishable from Crohn disease, especially with perianal disease or a history of abscess-forming infection — consider chronic granulomatous disease
• Systemic lupus erythematosus presenting in early childhood, in a male, or with a persistently absent CH50 — consider classical complement (C1q, C2, C4) deficiency
• Granulomatous arthritis with uveitis and a papular rash in a child under five — consider Blau syndrome, an NOD2 autoinflammatory disease
• Autoimmune cytopenia, enteropathy, or polyendocrinopathy in an infant male with eczema — consider an immune dysregulation syndrome such as IPEX or ALPS
• A family history that combines early-onset autoimmunity with immunodeficiency, consanguinity, or early male death

Life stages

Care settings

Clinical exam formats

Board mappings

• Recognises that a rheumatic presentation (arthritis, lupus, vasculitis, autoimmune cytopenia) with recurrent or unusual infection may signal an inborn error of immunity
• Orders immunoglobulins, a functional vaccine response, a full blood count, and a CH50 alongside the rheumatic work-up when infection and autoimmunity coexist
• Avoids starting a biologic or live vaccine before an underlying immune defect is excluded
• Applies the IUIS 2022 classification and ESID working definitions to place a rheumatic-immune overlap into a specific inborn error of immunity
• Distinguishes CVID arthritis, chronic granulomatous disease colitis, classical complement deficiency lupus, and immune dysregulation syndromes by the discriminating immune test
• Coordinates combined immunology and rheumatology care, balancing infection prophylaxis with corticosteroid-sparing immunosuppression and planning haematopoietic stem cell transplantation where curative
• The rheumatic-immune overlaps: CVID arthritis and autoimmune cytopenia, CGD granulomatous colitis, classical complement deficiency and childhood lupus, Blau syndrome, and immune dysregulation syndromes
• The discriminating investigations: immunoglobulins and vaccine response, the DHR oxidative burst assay, the CH50 and AP50, flow cytometry, and a targeted gene panel
• Principles of dual therapy — treat the immune defect and the rheumatic manifestation in parallel, with infection vigilance throughout
• Long Case: the child with arthritis or lupus plus recurrent infection — building the differential across the immune arms and choosing the first test
• Short Case: distinguishing CVID arthritis from juvenile idiopathic arthritis, and CGD colitis from Crohn disease
• Communication: explaining to a family why immunosuppression must be balanced against infection risk and why genetic counselling applies
• Level 1: Recognition that autoimmunity and immunodeficiency can coexist, and that early-onset or atypical rheumatic disease warrants an immune screen
• Level 2: Selecting immunoglobulins, DHR assay, and CH50 appropriately; initiating infection prophylaxis; and referring to a joint immunology-rheumatology service
• Level 3: Managing refractory rheumatic disease alongside a confirmed immune defect, coordinating transplantation, and leading transition
• Foundation of Practice: the immune arms and their rheumatic fingerprints; the warning-sign overlaps that earn an immune work-up
• Theory and Science: immune tolerance and its failure, the respiratory burst, complement and apoptotic clearance, and the genetics of immune dysregulation
• Applied Knowledge in Practice: interpreting combined infection-and-autoimmunity patterns and choosing the discriminating test
• History-taking and management: the child with arthritis and recurrent infection, building the differential and the investigation plan
• Communication: explaining the dual diagnosis, the need for prophylaxis, and the role of genetic testing and family screening
• Video: recognising the rheumatic-immune overlaps from the clinical features
• General Pediatrics Content Outline - D17 Allergy and Immunology (3%): recognise inborn errors of immunity that present with autoimmunity
• General Pediatrics Content Outline - D14 Rheumatology (4%): distinguish primary immune-mediated arthritis and lupus from classic rheumatic disease
• General Pediatrics Content Outline - Universal Task 4: Management and Treatment — dual therapy for infection and autoimmunity
• Patient Care 4: Clinical Reasoning — building the differential across immune arms when infection and autoimmunity coexist
• Patient Care 5: Patient Management — combined immunology and rheumatology care with infection vigilance
• Medical Knowledge 3: Allergy and Immunology — the IUIS classification and the rheumatic manifestations of immune defects
• Systems-Based Practice 1: Patient Safety — avoiding biologic or live-vaccine harm before excluding an immune defect
• Medical Expert — diagnosing the rheumatic-immune overlap and selecting the discriminating immune test
• Pediatrics: Allergy and Clinical Immunology and Rheumatology — combined management of inborn errors of immunity with rheumatic disease
• Collaborator — coordinating immunology, rheumatology, genetics, and transplantation services