Printable factfile
Male infants with XSCID appear normal at birth. Clinical features of XSCID contain failure to thrive, oral trush, candidal diaper rash, absent tonsils, persistence of infection despite conventional treatment. Other features include presence of lymphocytopenia ('alymphocytosis'), earlier age at death, vulnerability to viral and fungal and bacterial infections, lack of delayed
hypersensitivity, atrophy of the thymus, and lack of benefit by gamma globulin administration. Patients with X-SCID have extreme susceptibility to infections.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Bone marrow transplantation is the only treatment of SCID. Other recommendations include intravenous gamma-globulin infusion, irradiation of all blood products, antibiotherapy. Gene therapy is now succesful for X-linked SCID.
- Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease
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
- Publications related to SCID-X1 gene therapy trial
- European Initiative for Primary Immunodeficiencies