DOCK8 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.

Immune problems are also common, including autoimmune hemolytic anemia, severe allergies (both food and environmental), asthma, and reactive airway disease.

The nervous system may also be affected; observed conditions in DOCK8 deficient people include hemiplegia, ischemic stroke, subarachnoid hemorrhage, and facial paralysis.

It may also be a tumor suppressor, since DOCK8 is lost in many cancers and people with DOCK8 deficiency are prone to developing malignancies.

It can be distinguished from the similar X-linked Wiskott–Aldrich syndrome by the presence of thrombocytopenia and the consequent bloody diarrhea, as well as its pattern of inheritance.

[3] Long-term treatment with systemic antibiotics, including trimethoprim/sulfamethoxazole, penicillins, and cephalosporins, is effective in preventing skin and lung infections.

[3] Patients with Combined Immunodeficiency (CID) generally experience a survival advantage when receiving hematopoietic stem cell transplantation (HSCT) prior to experiencing end-organ damage from significant infectious and inflammatory complications.

Furthermore, most patients had their eczema and molluscum contagiosum infections resolved or improved post HSCT treatment.

[7] Children with DOCK8 deficiency do not tend to live long; sepsis is a common cause of death at a young age.