Combined Immunodeficiency Due To Dock8 Deficiency C4722305
A rare primary immune deficiency caused by DOCK8 gene mutations. Patients experience recurrent infections, severe allergies, and increased cancer risk. Treatment involves infection prevention, allergy management, and potentially hematopoietic stem cell transplant as a cure.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent severe viral infections (herpes simplex, molluscum contagiosum)
Markedly elevated serum IgE with recurrent staphylococcal abscesses
Autoimmune cytopenias (immune thrombocytopenia, autoimmune hemolytic anemia)
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe atopic dermatitis with secondary skin infections
(immunologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Hematopoietic Stem Cell Transplantation
Early HSCT is the treatment of choice for DOCK8 deficiency, providing definitive correction of the immunological defects. This condition has particularly favorable transplant outcomes when performed before severe viral infections or malignancy develops.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunoglobulin Replacement Therapy
Regular immunoglobulin replacement provides essential antibody coverage in this antibody-deficient state, significantly reducing bacterial infections and improving quality of life.
Additional treatment options
Enhanced Antiviral Prophylaxis
DOCK8 deficiency causes severe susceptibility to viral infections including herpesviruses, HPV, and molluscum contagiosum. Prophylactic antivirals and aggressive treatment of warts are essential components of care.
medicationCancer Surveillance Program
Patients with DOCK8 deficiency have markedly elevated risk for cutaneous viral infections that can progress to squamous cell carcinoma. Regular dermatologic examinations and prompt biopsy of suspicious lesions are essential.
monitoringAllergy and Atopy Management
Severe atopy with food allergies, asthma, and eczema is characteristic of DOCK8 deficiency. Aggressive management with antihistamines, topical corticosteroids, and food allergy protocols improves quality of life.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Combined Immunodeficiency Due To Dock8 Deficiency C4722305?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update. J Clin Immunol. 2022.
Su HC, Orange JS. DOCK8 deficiency: expanding the clinical phenotype. Immunol Allergy Clin North Am. 2020.
Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009.
Jolles S, Sanchez-Ramon S, Quinti I, et al. Treatable immunodeficiencies: moving beyond primary immunodeficiencies. J Allergy Clin Immunol Pract. 2021.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy