Clinical Manifestations and Immunologic Features of Chediak–Higashi Syndrome: A 12-Year National Registry Study from Iran
This 12-year national registry study from Iran characterizes the clinical and immunological features of 23 patients with Chediak–Higashi syndrome, highlighting a significant diagnostic delay, high rates of parental consanguinity, and the critical need for early genetic screening and hematopoietic stem cell transplantation to prevent life-threatening complications.