DOCK8 deficiency: Insights into pathophysiology, clinical features and management
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Academic Press Inc Elsevier Science
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Dedicator of cytokinesis 8 (DOCKS) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer. It is caused by loss of function mutations in DOCK8, encoding a guanine nucleotide exchange factor highly expressed in lymphocytes that regulates the actin cytoslceleton. Additional roles of DOCK8 have also emerged, including regulating MyD88-dependent Toll-like receptor signaling and the activation of the transcription factor STAT3. DOCK8 deficiency impairs immune cell migration, function and survival, and it impacts both innate and adaptive immune responses. Clinically, DOCKS deficiency is characterized by allergic inflammation as well as susceptibility towards infections, autoimmunity and malignancy. This review details the pathophysiology, clinical features and management of DOCKS deficiency. It also surveys the recently discovered combined immunodeficiency due to DOCK2 deficiency, highlighting in the process the emerging spectrum of PIDs resulting from DOCK protein family abnormalities. (C) 2017 Elsevier Inc. All rights reserved.
Açıklama
Anahtar Kelimeler
Actin, Cdc42, Combined Immunodeficiency, Dedicator Of Cytokinesis, Dock2, Dock8, Hyper Ige Syndrome, Primary Immunodeficiency, Rac1, Stat3
Kaynak
Clinical Immunology
WoS Q Değeri
Q2
Scopus Q Değeri
Q1
Cilt
181
