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Presentation similar to SCID. The children have extreme susceptibility to bacterial, viral, and fungal infections in the first year of life and usually results in death by age of four. Liver diseases associated with chronic Cryptosporidium infection often develops. 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
Diagnostic laboratories
Clinical:
Genetic:
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.
- Stem Cell Transplant, The 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
- Presentation of Self and Foreign Antigens by MHC Class II Molecules, Beckman Research Institute, Division of Immunology
- Molecular basis of immune regulation, Leiden University Medical Center
- Immunogenetics of Bare lymphocyte syndrome(BLS), ORPHANET