Roifman syndrome: a description of further immunological and radiological features.
BMJ Case Rep
; 15(4)2022 Apr 21.
Article
in En
| MEDLINE
| ID: mdl-35450878
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteochondrodysplasias
/
Mental Retardation, X-Linked
/
Primary Immunodeficiency Diseases
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
Language:
En
Journal:
BMJ Case Rep
Year:
2022
Document type:
Article
Affiliation country:
Ireland