Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome

Qian Zhang, Jeremiah C. Davis, Christopher G. Dove, Helen C. Su

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

DOCK8 immunodeficiency syndrome (DIDS) is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy. Genetic studies revealed large, unique deletions in patients from different families and ethnic backgrounds. Clinical markers of DIDS include atopic dermatitis, allergies, cutaneous viral infections, recurrent respiratory tract infections, and malignancy. Immune assessments showed T cell lymphopenia, hyper-IgE, hypo-IgM, and eosinophilia. The impaired lymphocyte functions in DIDS patients appear central for disease pathogenesis.

Original languageEnglish
Pages (from-to)131-139
Number of pages9
JournalDisease Markers
Volume29
Issue number3-4
DOIs
Publication statusPublished - 2010
Externally publishedYes

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Keywords

  • atopic dermatitis
  • combined immunodeficiency
  • cutaneous viral infections
  • DIDS
  • DOCK8
  • hyper-IgE syndrome
  • lymphopenia

ASJC Scopus subject areas

  • Biochemistry, medical
  • Clinical Biochemistry
  • Molecular Biology
  • Genetics

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