Details of Disease

General Information of Disease (ID: DISRXLGV)

• Disease Name: Combined immunodeficiency due to DOCK8 deficiency
• Synonyms: AR-HIES; hyper-IgE recurrent infection syndrome, autosomal recessive; AR hyperimmunoglobulin E syndrome; DOCK8 deficiency; HIES, autosomal recessive; hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; hyper Ig E syndrome, autosomal recessive; hyper-IgE syndrome, autosomal recessive; HIES autosomal recessive; autosomal recessive hyper IgE syndrome; combined immunodeficiency due to DOCK8 deficiency; dedicator of cytokinesis 8 deficiency; DOCK8 immunodeficiency syndrome; combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; Cid due to DOCK8 deficiency
• 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).
• Disease Hierarchy:
  DIS6W0DT: Hyper-IgE syndrome
  DISRXLGV: Combined immunodeficiency due to DOCK8 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009478
  UMLS CUI: C4722305
  OMIM ID: 243700
  MedGen ID: 1648410
  Orphanet ID: 217390

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DOCK8	OTNQLL21	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.