DOCK8 deficiency Other names Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency, CID due to DOCK8 deficiency DOCKS deficiency is autosomal recessive DOCK8 deficiency , also called DOCK8 immunodeficiency syndrome , is the autosomal recessive form of hyperimmunoglobulin E syndrome , a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia , and recurrent infections with staphylococcus and viruses. It is caused by a mutation in the DOCK8 gene . Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] The signs and symptoms of DOCK8 deficiency are similar to the autosomal dominant form, STAT3 deficiency. However, in DOCK8 deficiency, there is no skeletal or connective tissue involvement, and affected individuals do not have the characteristic facial features of those with autosomal dominant hyper-IgE syndrome. DOCK8 deficient children often have eczema , respiratory and skin staphylococcus infections. [1] [2] Beyond these, many other recurrent infections have been observed, including recurrent fungal infections and recurrent viral infections (including molluscum contagiosum , herpes simplex , and herpes zoster ), recurrent upper respiratory infection (including Streptococcus pneumoniae , Haemophilus influenzae , respiratory syncytial virus , and adenovirus ), recurrent sinusitis , recurrent otitis media , mastoiditis , pneumonia , bronchitis with bronchiectasis , osteomyelitis , candidiasis , meningitis (caused by cryptococcus or H. influenzae), pericarditis , salmonella enteritis , and giardiasis . Other dermatologic problems include squamous-cell carcinoma /dysplasia (vulvar, anal, and facial).
