DOCK8 deficiency: insights into pathophysiology, clinical features and management
… , as well as more recent findings on its role in amplifying signaling … clinical features of DOCK8
deficiency, and highlight the emergence of a family of DOCK-related immune deficiencies, …
deficiency, and highlight the emergence of a family of DOCK-related immune deficiencies, …
Additional diverse findings expand the clinical presentation of DOCK8 deficiency
O Sanal, H Jing, T Ozgur, D Ayvaz… - Journal of clinical …, 2012 - Springer
… Because of a lack of additional clinical features to support a diagnosis of DOCK8 deficiency,
… as likely to have been affected with DOCK8 deficiency. No DNA samples were available …
… as likely to have been affected with DOCK8 deficiency. No DNA samples were available …
DOCK8 deficiency
HC Su, H Jing, Q Zhang - Annals of the New York Academy of …, 2011 - Wiley Online Library
… clinical features of this disease to studies using patients’ cells and a mouse model of Dock8
deficiency, which have revealed how DOCK8 … the absence of DOCK8 contributes to patients’ …
deficiency, which have revealed how DOCK8 … the absence of DOCK8 contributes to patients’ …
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
… , STAT3 deficient patients lack the profound immunodeficiency found in DOCK8 deficiency
[… syndrome shares remarkably many clinical features with DOCK8 deficiency such as eczema, …
[… syndrome shares remarkably many clinical features with DOCK8 deficiency such as eczema, …
THE EVALUATION AND MANAGMENT OF DOCK8 DEFICIENCY
C Atkinson, S Stutes - Annals of Allergy, Asthma & Immunology, 2018 - Elsevier
… clinical features of Job Syndrome and DOCK8 deficiency and found that in DOCK8 deficiency,
coarse facial features … facial features should not necessarily exclude DOCK8 deficiency. …
coarse facial features … facial features should not necessarily exclude DOCK8 deficiency. …
Cutaneous manifestations of DOCK8 deficiency syndrome
EY Chu, AF Freeman, H Jing, EW Cowen… - Archives of …, 2012 - jamanetwork.com
… When the cardinal features of Job's syndrome or DOCK8 deficiency are present, it may
be possible to make a diagnosis based on clinical findings alone (Table 3). However, early …
be possible to make a diagnosis based on clinical findings alone (Table 3). However, early …
Combined Immunodeficiency Associated with DOCK8 Mutations
Q Zhang, JC Davis, IT Lamborn… - … England Journal of …, 2009 - Mass Medical Soc
… same gene (DOCK8), we recognized that their disorders shared certain clinical features with
… Besides lymphopenia, DOCK8 deficiency has manifestations that have not previously been …
… Besides lymphopenia, DOCK8 deficiency has manifestations that have not previously been …
Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty five patients
Z Alsum, A Hawwari, O Alsmadi, S Al-Hissi… - Journal of clinical …, 2013 - Springer
… The patients [F3P3, F6P2, F6P3 and F7P2] were considered Dock8 deficient since they
have siblings with confirmed DOCK8 mutation and similar clinical presentation but no available …
have siblings with confirmed DOCK8 mutation and similar clinical presentation but no available …
Insights into immunity from clinical and basic science studies of DOCK 8 immunodeficiency syndrome
HC Su, H Jing, P Angelus… - Immunological reviews, 2019 - Wiley Online Library
… ), sometimes termed DOCK8 deficiency, has been previously reviewed elsewhere.1-3
DIDS is a combined immunodeficiency that has several unusual clinical features (see pictorial …
DIDS is a combined immunodeficiency that has several unusual clinical features (see pictorial …
DOCK8 deficiency presenting as an IPEX-like disorder
… DOCK8 deficiency to present as an immune dysregulatory disorder that overlaps in its phenotype
with IPEX-like disorders [21], underscoring the vital function of DOCK8 … clinical findings …
with IPEX-like disorders [21], underscoring the vital function of DOCK8 … clinical findings …
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