Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.

DOCK8 deficiency affects various cell subsets belonging to both innate and adaptive immune systems. Clinical diagnosis is challenging as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in presumptive diagnosis of DOCK8 deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis. Currently, hematopoietic stem cell transplantation (HSCT) is the only curative treatment option available for these patients. There is paucity of data from India on clinical diversity and molecular spectrum of DOCK8 deficiency. In the present study we report the clinical, immunological and molecular findings in 17 DOCK8-deficient patients from India diagnosed over last 5 years.