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Patients have extreme susceptibility to bacterial, viral, and fungal infections in the first year of life and usually results in death by age of four. It principally affects children born to cosanguineous families of nothern African or Mediterranean origin. Patients also can have liver diseases associated with chronic Cryptosporidium infection. Recurrent bronchopulmonary infections have been observed in all patients. The infectious agents include viruses (CMV, respiratory syncytial virus, enterovirus), bacteria (Steptococcus, Haemophilus, Proteus, Pseudomonas), Pneumocystis carinii, and Candida albicans. Neurological manifestation due to viral infections have been diagnosed in a number of patients. Hematologic manifestations are characterized by neutropenia and severe autoimmune cytopenia.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- Patients can be cured with bone marrow transplantations of haematopoietic stem cells. Other recommendations include treatment of infections with antibacterials, antifungals, and antivirals, intravenous gamma-globulin infusion, irradiation of all blood products.
- Bone marrow transplant, UCSF Medical Center
- Stem Cell Transplant, National Marrow Donor Program (NMDP)
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
- Beckman Research Institute
- University of Califonia
- Defective expression of HLA class 2, ORPHANET
- Leiden University Medical Center