Year-end Sale % OFF 
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.
Highlights
DOCK8 immunodeficiency syndrome (DIDS) is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy [1]
Thirty-two copy number variations (CNVs) and four indels have so far been reported in the DOCK8 region (9p24.3), and proximity to the telomere could contribute to the large deletions often observed in DIDS patients [21]
We previously showed that in vitro T cell receptor (TCR) stimulation leads to impaired activation, cell division, and expansion of T cells, especially of CD8 T cells, in peripheral blood mononuclear leukocytes from DIDS patients [1]
Summary
DOCK8 immunodeficiency syndrome (DIDS) is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy [1]. The family is composed of 11 atypical guanine exchange factors (GEFs), which activate Rho-GTPases including RAC1, RAC2, and CDC42 [6,7,8]. These GTPases are important in regulating many cellular functions including actin cytoskeletal organization, cell-cycle progression, and gene expression [9,10,11,12]. The Dock2-deficient mice have been well studied, no human disease has yet been associated with DOCK2 mutations. DIDS is the first human disease resulting from mutations in a DOCK180 family protein, and as such illuminates novel functions of DOCK8 within the immune system
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
