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Combined immunodeficiency due to DOCK8 deficiency

Disease definition

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).

ORPHA:217390

Classification level: Disorder
  • Synonym(s):
    • CID due to DOCK8 deficiency
    • Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
    • DOCK8 immunodeficiency syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.1
  • ICD-11: 4A01.1Y
  • OMIM: 243700
  • UMLS: C5679816
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown. To date, 11 patients in eight families have been reported.

Clinical description

Patients present in childhood with symptoms including atopic dermatitis, severe food and environmental allergies, asthma, recurrent upper and lower respiratory tract infections including otitis media, recurrent sinusitis, bronchitis and pneumonia, and extensive cutaneous viral and bacterial infections including superficial, often ulcerating herpes simplex virus infections, flat and verrucous warts, molluscom contagiosum infections, S. aureus skin infections or abscesses, mucosal or nail candidiasis and otitis externa. Patients with long-term herpes simplex virus infections, human papillomavirus infections or molluscom contagiosum have developed vulvar, facial and anal squamous cell dysplasia and carcinoma. The neurologic, vasculitic and autoimmune symptoms associated with autosomal dominant hyper IgE syndrome due to mutations in STAT3 (see this term), are not observed.

Etiology

CID due to DOCK8 deficiency is caused by homozygous or compound heterozygous deletions and point mutations in the DOCK8 gene (9p24), which leads to an absence of DOCK8 protein in lymphocytes, resulting in low absolute T and B lymphocyte counts, mild-to-moderate eosinophilia and very high levels of serum IgE.

Genetic counseling

Transmission is autosomal recessive.

Expert reviewer(s):  Pr Andrew GENNERY - Last update: July 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Polski (2012, pdf)

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ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.