Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Combined immunodeficiency due to DOCK8 deficiency

Orpha number ORPHA217390
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-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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).

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

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.

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.

Transmission is autosomal recessive.

Expert reviewer(s)

  • Dr Andrew GENNERY

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Review article
  • EN (2011)
Get Acrobat Reader
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.