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