| A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families. | A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.
Guo M, Ma Y, Cai K, Liu X, Liu W, Wang F, Qu N, Liu S. | 08/28/2024 |
| Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency. | Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.
Wilkie H, Das M, Pelovitz T, Bainter W, Woods B, Alasharee M, Sobh A, Baris S, Eltan SB, Al-Herz W, Barbouche MR, Ben-Mustapha I, Ben-Ali M, Sallam MTH, Awad A, Lotfy S, El Marsafy A, Ezzelarab M, Farrar M, Schmidt BAR, NandyMazumdar M, Guttman-Yassky E, Sheets A, Vidic KM, Murphy G, Schlievert PM, Chou J, Leyva-Castillo JM, Janssen E, Timilshina M, Geha RS. | 08/1/2024 |
| Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency. | Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Liquidano-Perez E, Maza-Ramos G, Perez Arias BA, Lugo Reyes SO, Barragan Arevalo T, Solorzano-Morales SA, Venegas Montoya E, Staines-Boone AT, Guzmán Cotaya R, Okada S, Picard C, Patin E, Ramirez-Uribe N, Bustamante-Ogando JC, Scheffler-Mendoza SC, Yamazaki-Nakashimada MA, Saez-de-Ocariz M, Espinosa Padilla SE, Gonzalez-Serrano ME. | 02/20/2024 |
| Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India. | Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.
Kumar Jindal A, Sil A, Aggarwal R, Tyagi R, Mondal S, Singh A, Barman P, Chawla S, Loganathan SK, Gupta K, Vinay K, Mahajan R, Saikia B, Kaur G, Sharma R, Saka R, Bhatia A, Sankhyan N, Pandiarajan V, Pilania R, Dhaliwal M, Sharma S, Vyas S, Suri D, Rawat A, Singh S. | 02/20/2024 |
| Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion. | Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion.
Gutierrez-Ruiz OL, Johnson KM, Krueger EW, Nooren RE, Cruz-Reyes N, Heppelmann CJ, Hogenson TL, Fernandez-Zapico ME, McNiven MA, Razidlo GL., Free PMC Article | 10/10/2023 |
| Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India. | Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.
Gowri V, Chougule A, Gupta M, Taur P, Iyengar VV, Sivasankaran M, Munirathnam D, Krishna S, Bargir UA, Dalvi A, Setia P, Jodhawat N, Shinde S, Prabhu SS, Bodhanwala M, Madkaikar MR, Desai MM. | 06/18/2023 |
| Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome. | Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome.
Yin J, Li X, Jiang L, Zhang Y, Li F, Li C. | 05/18/2023 |
| [Combined immunodeficiency due to DOCK8 deficiency. State of the art]. | [Combined immunodeficiency due to DOCK8 deficiency. State of the art].
Liquidano-Pérez E, Maza-Ramos G, Yamazaki-Nakashimada MA, Barragán-Arévalo T, Lugo-Reyes SO, Scheffler-Mendoza S, Espinosa-Padilla SE, González-Serrano ME. | 03/20/2023 |
| Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis. | Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis.
Kunimura K, Yamamura K, Nakahara T, Kido-Nakahara M, Uruno T, Fukui Y., Free PMC Article | 03/5/2023 |
| Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency. | Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency.
Su HC., Free PMC Article | 02/22/2023 |
| Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations. | Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.
Saghafi S, Zandieh F, Fazlollahi MR, Glocker C, Frede N, Buchta M, Yang L, Mahmoudi AH, Houshmand M, Pourpak Z, Grimbacher B, Moin M. | 09/3/2022 |
| Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner. | Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner.
Patrizi O, Baronio M, Gazzurelli L, Rossi S, Rezzola S, Marcenaro E, Plebani A, Badolato R, Parolini S, Lougaris V, Tabellini G. | 05/7/2022 |
| Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients. | Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
Momtazmanesh S, Rayzan E, Zoghi S, Shahkarami S, Molatefi R, Mohammadzadeh I, Ghaffari J, Mahmoudi H, Dmytrus J, Segarra-Roca A, Somekh I, Witzel M, Hauck F, Boztug K, Klein C, Rezaei N. | 04/2/2022 |
| DOCK8-related Immunodeficiency Syndrome (DIDS): Report of Novel Mutations in Iranian Patients. | DOCK8-related Immunodeficiency Syndrome (DIDS): Report of Novel Mutations in Iranian Patients.
Yousefnezhad S, Gharesouran J, Ghafouri-Fard S, Hosseinzadeh H, Ahmadian-Heris J, Jafari-Rouhi AH, Taheri M, Rezazadeh M. | 03/5/2022 |
| Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency. | Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Pillay BA, Fusaro M, Gray PE, Statham AL, Burnett L, Bezrodnik L, Kane A, Tong W, Abdo C, Winter S, Chevalier S, Levy R, Masson C, Schmitt Y, Bole C, Malphettes M, Macintyre E, De Villartay JP, Ziegler JB, Smart JM, Peake J, Aghamohammadi A, Hammarström L, Abolhassani H, Picard C, Fischer A, Latour S, Neven B, Tangye SG, Ma CS., Free PMC Article | 09/11/2021 |
| ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients. | ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients.
Eken A, Cansever M, Okus FZ, Erdem S, Nain E, Azizoglu ZB, Haliloglu Y, Karakukcu M, Ozcan A, Devecioglu O, Aksu G, Arikan Ayyildiz Z, Topal E, Karakoc Aydiner E, Kiykim A, Metin A, Cipe F, Kaya A, Artac H, Reisli I, Guner SN, Uygun V, Karasu G, Dönmez Altuntas H, Canatan H, Oukka M, Ozen A, Chatila TA, Keles S, Baris S, Unal E, Patiroglu T., Free PMC Article | 05/15/2021 |
| Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign. | Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.
Yue F, Yu Y, Zhang X, Jiang Y, Li L, Liu R, Zhang H., Free PMC Article | 02/20/2021 |
| Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome. | Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.
Aghebati-Maleki A, Shahani T, Momen T, Alyasin S, Changi-Ashtiani M, Biglari A, Shahrooei M, Javanian AS, Amini S, Bossuyt X, Rokni-Zadeh H. | 02/13/2021 |
| The OCK8 is a Cdc42-specific GEF that regulates interstitial migration of dendritic cells. | DOCK family proteins: key players in immune surveillance mechanisms.
Kunimura K, Uruno T, Fukui Y., Free PMC Article | 06/6/2020 |
| This comprehensive cytokine profile in HIES patients reveals distinctive biomarkers that differentiate between the DOCK8-deficient and AD patients. | Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.
Jacob M, Bin Khalaf D, Alhissi S, Arnout R, Alsaud B, Al-Mousa H, Lopata AL, Alazami AM, Dasouki M, Abdel Rahman AM. | 03/14/2020 |
| Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-HIES). DOCK8 deficiency status characterizes by recurrent infections. Whole-exome sequencing supported the diagnosis of PID by identifying a homozygous DOCK8 mutation. | DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan.
Al-Kzayer LFY, Al-Aradi HMH, Shigemura T, Sano K, Tanaka M, Hamada M, Ali KH, Aldaghir OM, Nakazawa Y, Okuno Y., Free PMC Article | 12/7/2019 |
| In our patients, a novel homozygous c.646-647delCT was found in the DOCK8 coding region, leading to a frame shift and resulting in a premature stop codon at position 226. | Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene.
Wang S, Mou W, Xu Z, Gui J, Ma L. | 11/16/2019 |
| our finding of significantly decreased DOCK8 expression and altered DOCK8 interaction network in ERU might explain changes in immune response and shows the contribution of DOCK8 in pathomechanisms of spontaneous autoimmune diseases. | Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity.
Schauer M, Kleinwort KJH, Degroote RL, Wiedemann C, Kremmer E, Hauck SM, Deeg CA., Free PMC Article | 10/26/2019 |
| CNVs disrupting the DOCK8 gene have clinical relevance, regardless of whether they are deletions or duplications. | Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.
Krgovic D, Kokalj Vokac N, Zagorac A, Gregoric Kumperscak H., Free PMC Article | 10/19/2019 |
| We conclude that DOCK8 protein is expressed in resting human neutrophils and DOCK8 expression is increased after stimulation with either phorbol 12-myristate 13-acetate or N-Formylmethionyl-leucyl-phenylalanine. Most patients with a disease-causing mutation in DOCK8 have normal neutrophil functions, while a minority showed a mild to moderate chemotactic defect. | Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency.
Mandola AB, Levy J, Nahum A, Hadad N, Levy R, Rylova A, Simon AJ, Lev A, Somech R, Broides A. | 08/24/2019 |