LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
Overall, we recommend informing family members of patients with STAT3-HIES about the
possibility of mosaicism. Furthermore, genetic testing of every newborn in families with
known members carrying STAT3 mutations is suggested to ensure the diagnosis of STAT3-
HIES early in life. Only an early diagnosis of STAT3-HIES allows initiation of the right
treatment necessary for limiting complications caused by infections and to benefit the quality
of life of the individual patient.
possibility of mosaicism. Furthermore, genetic testing of every newborn in families with
known members carrying STAT3 mutations is suggested to ensure the diagnosis of STAT3-
HIES early in life. Only an early diagnosis of STAT3-HIES allows initiation of the right
treatment necessary for limiting complications caused by infections and to benefit the quality
of life of the individual patient.