variants are highly variable. In line with this observation, the age at PID diagnosis in the current study ranged from 1 to 69 years of age. However, the median age at onset was 23 years, possibly indicating a delay in the PID diagnosis. No significant differences in the disease phenotype or the age at onset of the symptoms were identified among the individuals carryingClinical information was available for 15 of the 16 individuals carrying deleteriousmissense variants .
Nine of the eleven patients carrying the previously described pathogenic H67R variant belong to the same family . Four of these were diagnosed with CVID and required IgG replacement therapy. Consistent with hypogammaglobulinemia, these patients had recurrent respiratory infections. In this family, skin infections and sepsis were observed and immune dysregulation, autoimmunity and gastrointestinal involvement were common features.