SNP Shot: Genomic Insights

DOCK8 immunodeficiency syndrome is an immune system disorder marked by severe, recurring infections that can be life-threatening. These infections can stem from bacteria, viruses, or fungi. Skin problems manifest as rashes, blisters, pus-filled abscesses, open sores, and skin scaling. Individuals with this syndrome often experience frequent bouts of pneumonia and other infections affecting the respiratory system. Furthermore, they may develop immune system-related complications like eczema (an inflammatory skin condition), food or environmental allergies, and asthma.

A hallmark of DOCK8 immunodeficiency syndrome is abnormally elevated levels of immunoglobulin E (IgE) in the blood, often exceeding ten times the normal range for unknown reasons. IgE typically triggers immune responses against foreign invaders, especially parasites, and is implicated in allergic reactions. The reason for these high IgE levels in DOCK8 immunodeficiency syndrome is not fully understood. Additionally, affected individuals exhibit elevated counts of eosinophils (hypereosinophilia), a type of white blood cell involved in immune responses and allergic reactions.

Neurological issues can also occur in some individuals with DOCK8 immunodeficiency syndrome, including paralysis affecting the face or one side of the body (hemiplegia). They may also experience stroke due to blocked blood flow or abnormal bleeding within the brain.

Individuals with DOCK8 immunodeficiency syndrome have an increased risk of developing certain cancers, notably cancers affecting the blood or skin.

DOCK8 immunodeficiency syndrome is also frequently referred to as autosomal recessive hyper-IgE syndrome. However, because multiple conditions exhibit elevated IgE levels and follow an autosomal recessive inheritance pattern, distinctions are made. Each of these conditions presents with its own unique set of signs, symptoms, and genetic cause. Some clinicians categorize these conditions as variations of hyper-IgE syndrome, while others consider them to be separate disorders altogether.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that both copies of the responsible gene within each cell must carry mutations for the condition to develop. Individuals with autosomal recessive conditions inherit one copy of the mutated gene from each parent, who are typically carriers without displaying symptoms of the condition themselves.