SUMMARY

 

1.  Roifman syndrome 2 (Roifman-Costa syndrome) has been described in a small number of patients.  It  is characterized by the following clinical features: 

 

-Spondylometaphyseal dysplasia
-Autoimmune disease 
-Recurrent infections
-Combined immunodeficiency

 

2.  The immunologic abnormalities reported in patients included impaired specific antibody responses, T cell lymphopenia and decreased in vitro T cell proliferation to mitogens. 

 

3.  Patients with significant humoral immunodeficiency may benefit from immunoglobulin replacement therapy or prophylactic antibiotics.  

 

 

 

 

 

 

OVERVIEW

 

    Roifman syndrome 2 (Roifman-Costa syndrome) has been described in a small number of patients.  It  is characterized by the following clinical features: 

 

Spondylometaphyseal dysplasia
Autoimmune disease (ITP, hypothyroidism, JIA, Crohns)
Recurrent infections
Combined immunodeficiency

 

     The immunologic abnormalities reported in patients included impaired specific antibody responses, T cell lymphopenia and decreased in vitro T cell proliferation to mitogens. 

 

 

 

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

 

Poor specific antibody responses, CD4 and CD8 lymphopenia and decreased in vitro proliferation to mitogens have been reported in patients.  Total immunoglobulin levels were normal or elevated in patients.

 

 

 

 

MANAGEMENT

     
     Patients with significant humoral immunodeficiency may benefit from immunoglobulin replacement therapy or prophylactic antibiotics.  PJP prophylaxis with Trimethoprim-sulfamethoxazole should be considered for patients with markedly decreased T cell number and function. 

 

 

 

                                                                           

RESOURCES

 

Literature Resources

 

1. Roifman 2003

    Roifman Syndrome 2