Monogenic inborn errors of immunity in autoimmune disorders

In conclusion, 50% of children with AID have underlying PIRD.LRBA deficiency andSTAT1 GOF were the most common PIRD. Age at presentation, number of autoimmunity, routine immunological tests, and JMF criteria are not predictive of underlying PIRD. Early diagnosis with exome sequencing alters the prognosis and opens new therapeutic avenue.
Source: Immunologic Research - Category: Allergy & Immunology Source Type: research