ImmunoDeficiency Resource (IDR)

Diagnosis

Diagnostic recommendations

• ESID/PAGID recommendations by IDR

Additional Information

• Alopecia and T-cell deficiency, Gene Test
• Severe Combined Immunodeficiency, eMedicine
• T-cell disorder, eMedicine
• Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation. Blood 2001
• SCID phenotypes, Sullivan K. 2006

Diagnostic laboratories

Clinical:

• Severe Combined Immunodeficiency, eMedicine
• T-cell disorder, eMedicine

Genetic:

• Alopecia and T-cell deficiency, Gene Test

Therapeutic options

• Bone marrow transplantation is the only treatment of SCID. Other recommendations include intravenous gamma-globulin infusion, irradiation of all blood products, antibiotherapy.
• BMT, supportive treatment, prophylaxis of infection and tailored conditioning regimen, National Marrow Donor Program
• Omenn syndrome, eMedicine
• T-cell disorder, eMedicine
• Severe Combined Immunodeficiency, eMedicine

Research programs, clinical trials

• Pilot Study of Allogeneic Bone Marrow Transplantation Plus Cyclosporine and Mycophenolate Mofetil to Induce Mixed Hematopoietic Chimerism in Patients With Primary T-Cell Immunodeficiency Disorders, ClinicalTrial.gov
• European Initiative for Primary Immunodeficiencies