Paeds Cases · allergy-and-immunology
Explaining SCID and the transplant urgency — OSCE
Communication and structured-discussion OSCE on explaining to the parents of a six-week-old boy — referred after a low TREC newborn screen and confirmed to have X-linked SCID on flow cytometry and genetic testing — what SCID is, why it is a medical emergency, what the live-vaccine and blood-product rules mean, what the transplant involves and why it must happen before infection, and what the genetic implications are for the family, including the mother's anxiety about her son surviving and the father's belief that the family history is irrelevant.
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Candidate instructions (8-minute station)
You are the paediatric registrar in the clinic. A six-week-old boy has been referred because his newborn screening dried blood spot returned a low T-cell receptor excision circle (TREC) result. Flow cytometry confirmed a T⁻B⁺NK⁻ pattern and genetic testing confirmed an IL2RG mutation — X-linked severe combined immunodeficiency (SCID). He is clinically well and feeding normally. [1]
Your tasks are: [2]
- Explain to the parents what SCID is and why it is a medical emergency, in language they can understand. [2]
- Explain the protections you are putting in place — no live vaccines, irradiated blood products, prophylaxis, immunoglobulin — and why they matter. [9]
- Explain the transplant and why it must happen before infection, and what the expected outcome is. [2]
- Address the mother's fear that her son will die and the father's belief that the family history is just coincidence. [1]
You are not expected to organise the donor search or the conditioning regimen in the station, but you should name them as the next steps and explain what they involve. [10]
References4ShowHide
- [1]Kwan A; Abraham RS; Currier R; Brower A; Andruszewski K; Abbott JK; Baker M; Ballow M Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA, 2014.PMID 25138334
- [2]Pai SY; Logan BR; Griffith LM; Buckley RH; Parrott RE; Dvorak CC; Kapoor N; Hanson IC Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med, 2014.PMID 25075835
- [9]Shearer WT, Fleisher TA, Buckley RH, et al. Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol, 2014.PMID 24582311
- [10]Lankester AC; Neven B; Mahlaoui N; von Asmuth EGJ; Courteille V; Alligon M Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort. J Allergy Clin Immunol, 2022.PMID 34718043