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. ... 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 . ... Vascular complications are common, including aortic aneurysm , cerebral aneurysm , vessel occlusion and underperfusion, and leukocytoclastic vasculitis . [1] [2] [3] [4] Pathophysiology [ edit ] DOCK8, or "dedicator of cytokinesis 8", is a protein involved in regulating the actin skeleton of the cell. ... CNS and vascular complications are other common causes of death. [3] Epidemiology [ edit ] DOCK8 deficiency is very rare, [1] estimated to be found in less than one person per million; [2] there have been 32 patients diagnosed as of 2012. [5] History [ edit ] DOCK8 deficiency was first described in 2004. [1] The mutation was discovered in 2009. [5] References [ edit ] ^ a b c d e "OMIM Entry - # 243700 - HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE" . www.omim.org .
