[; CLINICAL CASE OF STAT3 GOF IMMUNE DYSREGULATION DISEASE, ALPS]

Dysregulation of the immune system occurs when the immune system cannot regulate normal control of inflammation, which leads to the most common severe inflammatory infections. Some of the manifestations of diseases of immune dysregulation are called diseases of increased function of STAT1 (GOF) and enhanced function of STAT3 (GOF). STAT stands for a kind of signal converter and transcription activator. To date, six STAT proteins have been identified. The following clinical case is interesting and relevant in that, despite an increase in the number of patients diagnosed with primary immunodeficiencies, it should be noted that this pathology is underdiagnosed, since in this case, before making the diagnosis, the child was hospitalized more than 20 times in various hospitals for more than 20 times. The patient was diagnosed with primary immunodeficiency, immune dysregulation diseases, STAT3 GOF, autoimmune lymphoproliferative syndrome.