Paeds Cases · allergy-and-immunology
Counsel a family on a new X-linked agammaglobulinaemia diagnosis — OSCE
OSCE communication and shared-planning station: explaining a new antibody-deficiency diagnosis to a family, the need to confirm the defect with a functional vaccine response and genetic testing before starting immunoglobulin, what lifelong immunoglobulin replacement involves, the family implications of carrier testing, and the generally good prognosis with consistent therapy — while addressing fear and avoiding the over-diagnosis trap.
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MRCPCH ClinicalRACP DCERCPSC Pediatrics
Prompt
The parents of a nine-month-old boy with recurrent pneumonia, absent tonsils and low immunoglobulins have been told he may have a 'genetic immune condition'. They are frightened he will die, worried that the diagnosis is their fault, and confused about what 'immunoglobulin replacement' means. They have also heard online that low antibodies can be 'just a phase in babies' and want to know why you would not simply wait. Counsel them.
Candidate brief
You have eight minutes to counsel the parents of a nine-month-old boy in whom you suspect X-linked agammaglobulinaemia. The diagnosis is not yet genetically confirmed. Use a structured, honest, empathic approach. [1] [2]
References4ShowHide
- [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
- [2]Winkelstein JA, Marino MC, Lederman HM, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore), 2006.PMID 16862044
- [3]Bonilla FA. Personalized therapy for common variable immunodeficiency. Allergy Asthma Proc, 2020.PMID 31888779
- [4]Seidel MG, Kindle G, Gathmann B, et al. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J Allergy Clin Immunol Pract, 2019.PMID 30776527