P. Dock 8 defy

 DOCK8 deficiency (Dedicator of Cytokinesis 8 deficiency) is a rare primary immunodeficiency caused by mutations in the DOCK8 gene. It is inherited in an autosomal recessive pattern and is classified within the group of combined immunodeficiencies.

Below is a clear, medically accurate overview.

🔬 What DOCK8 Deficiency Is

DOCK8 deficiency leads to impaired function of immune cells—especially T cells, B cells, and NK cells. Because DOCK8 is important for immune cell movement and survival, its absence causes severe immune dysregulation.

🧠 Key Features and Symptoms

1. Recurrent and Severe Infections

• Viral infections: HPV, molluscum contagiosum, HSV, VZV
• Bacterial infections: pneumonia, skin infections
• Fungal infections: Candida

2. Very High IgE Levels + Eosinophilia

This is why DOCK8 deficiency is sometimes grouped with “Hyper-IgE syndromes.”

3. Allergy and Atopy

• Severe eczema
• Food allergies
• Asthma

4. Autoimmunity

Some patients develop autoimmune cytopenias or vasculitis.

5. Increased Cancer Risk

Especially:

• Squamous cell carcinoma
• Lymphoma

6. Failure to Thrive

Poor growth is common, especially in childhood.

🧬 How It’s Diagnosed

Diagnosis typically includes:

• High serum IgE and eosinophils
• Low IgM (common)
• Low T-cell numbers and function
• Genetic testing confirming biallelic DOCK8 mutations

💉 Treatment

Definitive Treatment

• Hematopoietic stem cell transplantation (HSCT)
  This is the only curative therapy and significantly improves survival.

Supportive Care

• Prophylactic antibiotics/antivirals
• Immunoglobulin replacement therapy (IVIG/SCIG)
• Aggressive treatment of skin infections
• Allergy management

🩺 Prognosis

Without HSCT, patients often experience progressive immune dysfunction and higher risk of fatal infections or malignancy. With early transplantation, outcomes are dramatically improved.

If you want, I can provide:

• A comparison with STAT3-Hyper IgE syndrome
• Diagnostic criteria
• Management guidelines
• A simplified explanation for patients/families

Just let me know!