CIITA, MHCII transactivating protein deficiency

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. Type 2 BLS is a rare form of AR T+B+SCID that principally affects children born to cosanguineous families of nothern African or Mediterranean origin. In MHC class II-deficient patients, liver disease 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.