Roifman syndrome: a description of further immunological and radiological features

Clifford, Danielle; Moloney, Fiachra; Leahy, Timothy Ronan; Murray, Deirdre M.

Roifman syndrome: a description of further immunological and radiological features

Files

Accepted_manuscript.pdf(266.86 KB)

Accepted Version

Date

2024-01-22

Authors

Clifford, Danielle

Moloney, Fiachra

Leahy, Timothy Ronan

Murray, Deirdre M.

Publisher

BMJ Publishing Group

Published Version

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

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.

Keywords

Roifman syndrome , Subcutaneous immunoglobulin therapy

Citation

Clifford, D., Moloney, F., Leahy, T. R. and Murray, D. M. (2022) 'Roifman syndrome: a description of further immunological and radiological features', BMJ Case Reports CP, 15(4), e249109. https://doi.org/10.1136/bcr-2022-249109