DOCK8 deficiency

HC Su, H Jing, Q Zhang - Annals of the New York Academy of …, 2011 - Wiley Online Library
DOCK8 are … Dock8 deficiency, which have revealed how DOCK8 regulates T and B cell
numbers and functions. The results of these studies help to explain how the absence of DOCK8

DOCK8 deficiency: insights into pathophysiology, clinical features and management

CM Biggs, S Keles, TA Chatila - Clinical Immunology, 2017 - Elsevier
… This review will examine our current understanding of DOCK8 function in immune cells…
DOCK8 deficiency, and highlight the emergence of a family of DOCK-related immune deficiencies

DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients

SE Aydin, SS Kilic, C Aytekin, A Kumar… - Journal of clinical …, 2015 - Springer
… Mutations in DOCK8 result in autosomal recessive Hyper-IgE … survey of patients with DOCK8
mutations, focused on clinical … of the clinical phenotype of DOCK8 deficiency in the largest …

Additional diverse findings expand the clinical presentation of DOCK8 deficiency

O Sanal, H Jing, T Ozgur, D Ayvaz… - Journal of clinical …, 2012 - Springer
… We describe seven Turkish children with DOCK8 deficiency … Patients had homozygous
mutations in DOCK8 that altered … family members showed that DOCK8 deficiency is a fully …

Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency

SE Aydin, AF Freeman, W Al-Herz, HA Al-Mousa… - The Journal of Allergy …, 2019 - Elsevier
… load of viral disease in DOCK8 deficiency. This may be caused … after haploidentical HSCT
in DOCK8 deficiency is inferior. … after MMFD HSCT in DOCK8 deficiency is in line with recent …

Combined Immunodeficiency Associated with DOCK8 Mutations

Q Zhang, JC Davis, IT Lamborn… - … England Journal of …, 2009 - Mass Medical Soc
… Besides lymphopenia, DOCK8 deficiency has manifestations … DOCK8 deficiency suggests
that these cancers may be due to impaired tumor surveillance. It is also possible that DOCK8

DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction

SA McGhee, TA Chatila - Disease markers, 2010 - content.iospress.com
DOCK8 deficiency is a newly described primary immune deficiency resulting in profound …
Although little is known about the DOCK8 protein, it resembles other atypical guanine …

DOCK8 deficiency presenting as an IPEX-like disorder

FJ Alroqi, LM Charbonnier, S Keles… - Journal of clinical …, 2017 - Springer
… , and patients with DOCK8 deficiency exhibit decreased numbers and … In this report, we
highlight the capacity of DOCK8 deficiency to … the vital function of DOCK8 in immunoregulation. …

Cutaneous manifestations of DOCK8 deficiency syndrome

EY Chu, AF Freeman, H Jing, EW Cowen… - Archives of …, 2012 - jamanetwork.com
… that mutations in DOCK8 account for nearly … DOCK8 deficiency. We delineate the key
cutaneous manifestations and highlight the similarities and differences between DOCK8 deficiency

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

KL Randall, SSY Chan, CS Ma, I Fung, Y Mei… - Journal of Experimental …, 2011 - rupress.org
… of T cells from DOCK8-deficient humans To explore the effects of DOCK8 deficiency on T
cells, we first analyzed peripheral blood T cells from six DOCK8-deficient patients from five …