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