RFXANK, Ankyrin repeat containing regulatory factor X-associated protein deficiency

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.


Diagnostic recommendations

Additional Information

Diagnostic laboratories



Therapeutic options