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Case Reports: Rare disease
Roifman syndrome: a description of further immunological and radiological features
  1. Danielle Clifford1,
  2. Fiachra Moloney2,
  3. Timothy Ronan Leahy3,4 and
  4. Deirdre M Murray1,5,6
  1. 1Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland
  2. 2Department of Paediatric Radiology, Cork University Hospital, Cork, Ireland
  3. 3Department of Paediatric Immunology, Children's Health Ireland at Crumlin, Dublin, Ireland
  4. 4Department of Paediatrics, Trinity College Dublin, Dublin, Ireland
  5. 5Department of Paediatrics and Child Health, University College Cork, Cork, Ireland
  6. 6Principal Investigator, INFANT Centre, University College Cork, Cork, Ireland
  1. Correspondence to Dr Danielle Clifford; danielle.clifford{at}umail.ucc.ie

Abstract

Roifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome sequencing. We report an excellent response to subcutaneous immunoglobulin therapy in both brothers, reducing infection burden and hospital admissions. New radiological features are also described here which may assist in the diagnosis of other patients.

  • Thyroid disease
  • Genetics
  • Immunology
  • Paediatrics
  • Radiology

https://doi.org/10.1136/bcr-2022-249109

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    Footnotes

    • TRL and DMM contributed equally.

    • Contributors All authors contributed significantly to this paper. Both DM and TRL contributed equally to this paper as supervisors of the case report and edited throughout writing. DM helped to plan the report. TRL reported immunological findings. FM reviewed all imaging on these patients and chose which images were to be included as well as reporting radiological findings. DC wrote the report with assistance as above and reviewed the patient files, histories and laboratory investigations.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.