SUMMARY
1. Roifman syndrome 1 has been reported in a small number of patients from four families. It is characterized by the following clinical features:
-Microcephaly
-Growth retardation
-Hypotonia
-Developmental delay
-Spondyloepiphyseal dysplasia
-Metaphyseal dysplasia of the hips and long bones
-Retinal dystrophy
-Humoral immunodeficiency
2. The immunologic abnormalities reported in patients included impaired specific antibody responses and decreased isohemagglutinins. T cell number and function were normal.
3. Patients with recurrent infections and specific antibody deficiency may benefit from immunoglobulin replacement therapy.
OVERVIEW
Roifman syndrome 1 has been reported in a small number of patients from four families. It is characterized by the following clinical features:
-Microcephaly
-Growth retardation
-Hypotonia
-Developmental delay
-Spondyloepiphyseal dysplasia
-Metaphyseal dysplasia of the hips and long bones
-Retinal dystrophy
-Humoral immunodeficiency
The immunologic abnormalities reported in patients included impaired specific antibody responses and decreased isohemagglutinins. T cell number and function were normal.
EVALUATION
Step 1: Immune Evaluation
-CBC with Differential
-Lymphocyte subset enumeration by flow cytometry (CD3, CD4, CD8, CD19, CD16/56)
-IgG, IgM, IgA,
-Specific antibody responses to vaccine antigens
-Isohemagglutinins
-Poor specific antibody response and decreased isohemagglutinins have been reported in patients.
MANAGEMENT
Patients with recurrent infections and specific antibody deficiency may benefit from immunoglobulin replacement therapy or prophylactic antibiotic therapy.
RESOURCES
Literature Resources
1. Roifman 1999
Roifman Syndrome