{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.severe-combined-immunodeficiency","code":"thing-q1334408","url":"https://ver.cy/models/thing/q1334408/","name":"severe combined immunodeficiency","alternateNames":["CD3delta deficiency","CD3zeta deficiency","CD3gamma deficiency","immunodeficiency 11A","immunodeficiency 19","adenosine deaminase deficiency","artemis deficiency","recombinase activating gene 1 deficiency","recombinase activating gene 2 deficiency","CD45 deficiency","interleukin-7 receptor alpha deficiency","CD3epsilon deficiency"],"kind":"thing","status":"published","version":"0.2.0-wave.4","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A group of rare inherited disorders in which both T-cell and B-cell immunity are severely impaired, causing life-threatening infections in infancy, caused by mutations in many genes, including forms the registry aliases name such as adenosine deaminase deficiency, CD3 delta, gamma and zeta deficiencies and numbered immunodeficiencies such as immunodeficiency 11A and 19; SCID is detected in many countries by newborn screening using T-cell receptor excision circles, and treatments include haematopoietic stem cell transplantation, enzyme replacement and gene therapy. Infants with SCID should not receive live vaccines, and any infection in an affected infant needs urgent care.","purpose":"Let an agent explain SCID in general terms, relay genetics, screening, treatment and history from immunology and rare disease sources, route infections in affected infants to urgent care, point families to specialist immunology centres and patient organisations, and distinguish SCID from other combined immunodeficiencies, HIV-related immunodeficiency and milder primary immunodeficiencies, without diagnosing individuals.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Severe infections in infancy","Genetic heterogeneity","Newborn screening","Curable by transplant"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What SCID is.","layers":[{"id":"definition","name":"Definition","description":"Definition.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"What is SCID, and how does it differ from other combined immunodeficiencies, HIV and milder primary immunodeficiencies?","kind":"definition"},{"text":"Does an infant with known or suspected SCID have fever or signs of infection, in which case seek urgent care and tell clinicians about the diagnosis?","kind":"boundary"}]}]},{"id":"forms","name":"Forms","description":"Named forms.","findings":[{"id":"forms-finding","name":"Forms","description":"Forms.","questions":[{"text":"What are CD3 delta, gamma and zeta deficiencies, immunodeficiency 11A and 19 and ADA deficiency?","kind":"definition"},{"text":"Which entry fits the specific form?","kind":"action"}]}]}]},{"id":"medical","name":"Medical","description":"Diagnosis.","layers":[{"id":"screening","name":"Screening","description":"Newborn screening.","findings":[{"id":"screening-finding","name":"Screening","description":"Screening.","questions":[{"text":"How does TREC newborn screening detect SCID?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"genetics","name":"Genetics","description":"Genetics.","findings":[{"id":"genetics-finding","name":"Genetics","description":"Genetics.","questions":[{"text":"Which genes cause SCID, and how is it inherited?","kind":"provenance"},{"text":"Which sources are cited?","kind":"provenance"}]}]}]},{"id":"treatment","name":"Treatment","description":"Treatment.","layers":[{"id":"transplant","name":"Transplant","description":"Stem cell transplant.","findings":[{"id":"transplant-finding","name":"Transplant","description":"Transplant.","questions":[{"text":"How does stem cell transplantation cure SCID, in general terms?","kind":"provenance"},{"text":"Which entry fits hematopoietic stem cell transplantation?","kind":"action"}]}]},{"id":"gene","name":"Gene therapy","description":"Gene therapy.","findings":[{"id":"gene-finding","name":"Gene therapy","description":"Gene therapy.","questions":[{"text":"What gene therapies exist for SCID, checked against current sources?","kind":"provenance"},{"text":"Which entry fits gene therapy?","kind":"action"}]}]}]},{"id":"context","name":"Context","description":"History and support.","layers":[{"id":"history","name":"History","description":"History.","findings":[{"id":"history-finding","name":"History","description":"History.","questions":[{"text":"What is the story of David Vetter, the boy in the bubble?","kind":"provenance"},{"text":"Which entry fits David Vetter?","kind":"action"}]}]},{"id":"support","name":"Support","description":"Support.","findings":[{"id":"support-finding","name":"Support","description":"Support.","questions":[{"text":"Which organisations support families affected by primary immunodeficiency?","kind":"provenance"},{"text":"Which entry fits Immune Deficiency Foundation?","kind":"action"}]}]}]}]},"agentConduct":{"may":["Explain SCID, its genetic causes and treatment, from immunology sources.","Relay newborn screening information in general terms.","Urge families of an infant with repeated severe infections to seek prompt care."],"mustNot":["Advise on live vaccines for an infant with suspected immunodeficiency.","Diagnose SCID remotely.","Promote unproven immune treatments.","Disclose a child's diagnosis without consent."],"requiresHuman":["Treatment decisions such as stem cell transplant or gene therapy."]},"ethics":{"considerations":["SCID is fatal in infancy without treatment.","Families face hard decisions and isolation."],"affectedParties":["Infants","Families","Siblings"]},"owners":{"steward":"Nobody owns a disease; immunologists treat it and newborn screening programmes find cases.","roles":[],"masterSystems":["Newborn screening programmes","Rare disease registries"]},"relations":[{"target":"Q5150906","type":"parent","note":"registry parent class"},{"target":"combined immunodeficiency","type":"related","note":"in registry terms"},{"target":"newborn screening","type":"related"},{"target":"hematopoietic stem cell transplantation","type":"related"},{"target":"adenosine deaminase deficiency","type":"related"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.severe-combined-immunodeficiency","Wikidata: Q1334408 (https://www.wikidata.org/wiki/Q1334408)"]},"properties":{"applicability":"not-applicable","items":["newborn screening marker: TRECs note - T-cell receptor excision circles","ADA-SCID gene therapy approved in EU: 2016 year - Strimvelis","most common form in many populations: X-linked IL2RG SCID note"]},"recognition":{"applicability":"optional","items":["Severe inherited absence of T-cell function","CD3 delta, zeta and gamma deficiency, immunodeficiency 11A, immunodeficiency 19, adenosine deaminase deficiency","Other combined immunodeficiencies are less severe; HIV causes acquired immunodeficiency; many primary immunodeficiencies are milder","Infants with recurrent severe infections, thrush, diarrhoea and failure to thrive."]},"capabilities":{"applicability":"required","items":["explain in general terms","relay screening and treatment","describe named forms","route infections and point to specialists"]},"hazards":{"applicability":"required","items":["Live vaccines in undiagnosed infants","Delaying care for infections","Diagnosing individuals remotely"]},"interfaces":{"applicability":"required","items":["Newborn screening programmes","IUIS classification of inborn errors of immunity","Gene therapy approvals"]},"context":{"applicability":"required","items":["Not applicable; a group of diseases.","X-linked SCID","ADA-SCID","CD3 subunit deficiencies","RAG and Artemis deficiencies","numbered immunodeficiency types"]}},"sources":[{"title":"Wikidata item Q1334408: severe combined immunodeficiency","url":"https://www.wikidata.org/wiki/Q1334408","note":"identity and sense of the item"},{"title":"Wikipedia: Severe combined immunodeficiency","url":"https://en.wikipedia.org/wiki/Severe_combined_immunodeficiency","note":"general description of the item"}],"openQuestions":["Should each genetic form be a separate entry?","How should IUIS and Orphanet be linked?","How should gene therapy availability be kept current?"],"resources":{"spec":"/models/things/publications/thing-q1334408/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q1334408/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-13T20:16:40Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-06T19:51:54+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}