Roifman syndrome: a description of further immunological and radiological features

BMJ Case Rep. 2022 Apr 21;15(4):e249109. doi: 10.1136/bcr-2022-249109.


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.

Keywords: Genetics; Immunology; Paediatrics; Radiology; Thyroid disease.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies
  • Humans
  • Male
  • Mental Retardation, X-Linked* / diagnosis
  • Mutation
  • Osteochondrodysplasias* / diagnosis
  • Pedigree
  • Primary Immunodeficiency Diseases*
  • Retinal Diseases

Supplementary concepts

  • Roifman syndrome