Results

Among 107 children with warning signs, PID was diagnosed in 19 (17.8%) patients. Chronic diarrhoea with malabsorption was present more frequently in the patients with definable PID (p= 0.0048). Dysmorphic features and/or microcephaly were also more common in the patients with PID (p= 0.0456). More significant differences were found when microcephaly was combined with dysmorphic features (p= 0.0004). Congenital heart disease occurred only in the patients with PID (p= 0.0437), in particular with DiGeorge (22q11. 2 deletion) syndrome.

Conclusions

For early detection of PID, it is necessary to take into account regional features of the prevalence of certain PID. Our study has established that such warning signs as chronic diarrhoea with malabsorption, dysmorphic features and microcephaly, and congenital heart disease with/or without seizures with underlying hypocalcaemia were important for PID diagnosis in the studied region.