Printable factfile
The clinical description is relatively uniform. No symptoms are detected during pregnancy, birth and within the first few weeks of life. In the majority of cases, the symptoms start within the second or third month of birth. Infectious complications with a high preponderence of opportunistic infections are the hallmark of the disease. The clinical signs are characterized by chronic respiratory disease, recurrent acute pneumonia, therapy-resistant mucocutaneous candidiasis, eczematous dermatitis and systemic bacterial infections. The recurrent infections in addition to chronic enteritis lead to a therapy-resistant growth failure. Intracellular parasites (Listeria, Legionella), viruses (EBV) and cytomegaloviruses (CMV) cause lethal complications. All SCID children die within few months if they are not provided with haematopoietic stem cells.
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.
- National Marrow Donor Program
- 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
- Lisa A. Steiner at Yale University
- Recombination and expression of antigen receptor genes
- David Schatz at Howard Hughes Medical Institute
- European Initiative for Primary Immunodeficiencies