Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival

New Paper by USERN Interest Groups

🌀Thirty-seven eligible patients with a mean age of 28.51 ± 24.38 months at the time of diagnosis were included. 

🌀The most prevalent infectious symptoms were oral infections followed by respiratory infections.

🌀We identified HAX-1 mutation in 4, ELANE mutation in 4 cases, G6PC3 mutation in 1, and WHIM syndrome in 1 case. Other patients remained genetically unclassified.

🌀After the median follow-up of 36 months from the time of diagnosis, the overall survival was 88.88%. The mean event-free survival was 185.84 months (95% CI: 161.02, 210.66).

Source: https://doi.org/10.1097/mph.0000000000002670

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