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severe combined immunodeficiency

vr.tr.severe-combined-immunodeficiency · thing-q1334408

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.

Thing Registry Cross-cutting context XCT.STA
Bundle → Layer → Finding → QuestionsClassifiersWhat it isWhy it existsDistinguishing featuresWhat robots and AI may and may not doMoral aspectsOwnersLinks to other meta-modelsIdentity and identifiersDirect propertiesRecognitionCapabilities and actionsHazards and failure modesStandards and interfacesContext of useSources

Bundle → Layer → Finding → Questions Filled

4 bundles · 8 layers · 8 findings · 16 questions

Understand What SCID is.

Definition

Definition.

Definition

Definition.

  1. What is SCID, and how does it differ from other combined immunodeficiencies, HIV and milder primary immunodeficiencies? definition
  2. 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? boundary

Forms

Named forms.

Forms

Forms.

  1. What are CD3 delta, gamma and zeta deficiencies, immunodeficiency 11A and 19 and ADA deficiency? definition
  2. Which entry fits the specific form? action
Medical Diagnosis.

Screening

Newborn screening.

Screening

Screening.

  1. How does TREC newborn screening detect SCID? provenance
  2. Which references are standard? provenance

Genetics

Genetics.

Genetics

Genetics.

  1. Which genes cause SCID, and how is it inherited? provenance
  2. Which sources are cited? provenance
Treatment Treatment.

Transplant

Stem cell transplant.

Transplant

Transplant.

  1. How does stem cell transplantation cure SCID, in general terms? provenance
  2. Which entry fits hematopoietic stem cell transplantation? action

Gene therapy

Gene therapy.

Gene therapy

Gene therapy.

  1. What gene therapies exist for SCID, checked against current sources? provenance
  2. Which entry fits gene therapy? action
Context History and support.

History

History.

History

History.

  1. What is the story of David Vetter, the boy in the bubble? provenance
  2. Which entry fits David Vetter? action

Support

Support.

Support

Support.

  1. Which organisations support families affected by primary immunodeficiency? provenance
  2. Which entry fits Immune Deficiency Foundation? action

Classifiers Filled

Family
Thing Registry
Category
Cross-cutting context
Entry kind
thing
Plane
XCT
Domain
XCT.STA
Other names and narrower kinds
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

What it is Filled

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.

Why it exists Filled

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.

Distinguishing features Filled

  • Severe infections in infancy
  • Genetic heterogeneity
  • Newborn screening
  • Curable by transplant

What robots and AI may and may not do Filled

Must not

  • Advise on live vaccines for an infant with suspected immunodeficiency.
  • Diagnose SCID remotely.
  • Promote unproven immune treatments.
  • Disclose a child's diagnosis without consent.

Only with a human decision

  • Treatment decisions such as stem cell transplant or gene therapy.

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.

Moral aspects Filled

  • SCID is fatal in infancy without treatment.
  • Families face hard decisions and isolation.

Who is affected

  • Infants
  • Families
  • Siblings

Owners Filled

Steward

Nobody owns a disease; immunologists treat it and newborn screening programmes find cases.

Master systems

  • Newborn screening programmes
  • Rare disease registries

Links to other meta-models Filled

parent

  • Q5150906 - registry parent class

related

  • combined immunodeficiency - in registry terms
  • newborn screening
  • hematopoietic stem cell transplantation
  • adenosine deaminase deficiency

What else AI and robots need to interact with it Filled

Identity and identifiers required Filled

  • Vercy registry: vr.tr.severe-combined-immunodeficiency
  • Wikidata: Q1334408 (https://www.wikidata.org/wiki/Q1334408)

Direct properties not applicable Not applicable

  • 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

Plane XCT: no invented physical properties.

Recognition optional Filled

  • 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 and actions required Filled

  • explain in general terms
  • relay screening and treatment
  • describe named forms
  • route infections and point to specialists

Hazards and failure modes required Filled

  • Live vaccines in undiagnosed infants
  • Delaying care for infections
  • Diagnosing individuals remotely

Standards and interfaces required Filled

  • Newborn screening programmes
  • IUIS classification of inborn errors of immunity
  • Gene therapy approvals

Context of use required Filled

  • Not applicable; a group of diseases.
  • X-linked SCID
  • ADA-SCID
  • CD3 subunit deficiencies
  • RAG and Artemis deficiencies
  • numbered immunodeficiency types

Sources Filled

  1. Wikidata item Q1334408: severe combined immunodeficiency - identity and sense of the item
  2. Wikipedia: Severe combined immunodeficiency - general description of the item

Open questions

  • Should each genetic form be a separate entry?
  • How should IUIS and Orphanet be linked?
  • How should gene therapy availability be kept current?

Machine files

Card as JSON Specification Card backlog vercy.card/1

Provenance

thing registry research (pass 2) · unreviewed

Built from: models/things/publications/thing-q1334408/spec.json