DOCK8 deficiency presenting as an IPEX-like disorder
Purpose The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-
combined immunodeficiency whose clinical spectra include recurrent infections …
combined immunodeficiency whose clinical spectra include recurrent infections …
Case report: Hypomorphic function and somatic reversion in DOCK8 deficiency in one patient with two novel variants and sclerosing cholangitis
F Saettini, G Fazio, D Moratto, M Galbiati… - Frontiers in …, 2021 - frontiersin.org
DOCK8 deficiency is a combined immunodeficiency due to biallelic variants in dedicator of
cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing …
cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing …
Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells
Background Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is …
caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is …
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype
Background Autosomal recessive loss-of-function mutations in dedicator of cytokinesis 8
(DOCK8) cause a combined immunodeficiency characterized by atopy, recurrent infections …
(DOCK8) cause a combined immunodeficiency characterized by atopy, recurrent infections …
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
Background Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a
combined immunodeficiency with eczema, recurrent bacterial and viral infections, and …
combined immunodeficiency with eczema, recurrent bacterial and viral infections, and …
DOCK8 deficiency: insights into pathophysiology, clinical features and management
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …
Current status of dedicator of cytokinesis-associated immunodeficiency: DOCK8 and DOCK2
D Dimitrova, AF Freeman - Dermatologic clinics, 2017 - derm.theclinics.com
Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive combined
immunodeficiency syndrome characterized by recurrent sinopulmonary and cutaneous viral …
immunodeficiency syndrome characterized by recurrent sinopulmonary and cutaneous viral …
[HTML][HTML] Cryptosporidium infection in dedicator of cytokinesis 8 (DOCK 8) deficiency
Bi-allelic loss of function mutations in Dedicator of Cytokinesis 8 (DOCK8) cause a primary
combined T and B lymphocyte immunodeficiency characterized by eczema, sinopulmonary …
combined T and B lymphocyte immunodeficiency characterized by eczema, sinopulmonary …
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 who have not been previously
reported. Three patients presented with typical features of recurrent or severe cutaneous …
reported. Three patients presented with typical features of recurrent or severe cutaneous …
Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus
Z Jouhadi, K Khadir, F Ailal, K Bouayad, S Nadifi… - …, 2014 - publications.aap.org
Dedicator of cytokinesis 8 (DOCK8) deficiency is an innate error of adaptive immunity
characterized by recurrent infections with viruses, bacteria, and fungi, typically high serum …
characterized by recurrent infections with viruses, bacteria, and fungi, typically high serum …