Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

Deficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular characteristics of 9 Kuwaiti patients with DOCK8 deficiency and discuss differences that distinguish DOCK8 deficiency from atopic dermatitis. Clinical immunologists in areas with high incidence of consanguinity should have a high index of suspicion of DOCK8 deficiency in children with recalcitrant eczema, recurrent non-cutaneous infections and lymphopenia.

► DOCK8-deficient patients have selective TH2 bias.
► DOCK8 deficiency is characterized by progressive lymphopenia.
► DOCK8 deficiency is characterized by poor T-lymphocyte stimulation to mitogens.
► Hypermelanosis of oral mucosa is a new finding in DOCK8-deficient patients.