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Cited by 178Immunodeficiency and Autoimmune DisordersT-cell and B-cell ImmunologyBlood disorders and treatments

DOCK8 deficiency: Insights into pathophysiology, clinical features and management

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Biggs, Catherine M., Keles, Sevgi, Chatila, Talal A.·2017·Clinical Immunology
DOI 10.1016/j.clim.2017.06.003PMC PMC5555255
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Abstract

Dedicator of cytokinesis 8 (DOCK8) 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 cytoskeleton. 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, DOCK8 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 DOCK8 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.

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  • Patients with large deletions in the DOCK8 gene have increased susceptibility to pathogenic infections and exhibit allergic diseases.

    “In line with this, patients with large deletions in the DOCK8 gene experience increased susceptibility to pathogenic infections yet also exhibit allergic diseases, leading to great interest surrounding DOCK8 in the field of immunology, which has recently been reviewed in great detail (50, 115, 116).”

    From RHO to the DOCK for GDP disembarking: Structural insights into the DOCK GTPase nucleotide exchange factors (2021) · cites this paper as [115]

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  1. [1]Chan SK Gelfand EW Primary Immunodeficiency Masquerading as Allergic Disease Immunol Allergy Clin North Am 35 2015 767 778 10.1016/j.iac.2015.07.008 26454318 · DOI
  2. [2]Dimitriades VR Sorensen R Rheumatologic manifestations of primary immunodeficiency diseases Clin Rheumatol 35 2016 843 850 10.1007/s10067-016-3229-6 26971790 · DOI
  3. [3]Kersey JH Spector BD Good RA Primary Immunodeficiency Diseases and Cancer: The Immunodeficiency-Cancer Registry Int J Cancer 12 1973 333 47 4365092
  4. [4]Vajdic CM Mao L Van Leeuwen MT Kirkpatrick P Grulich AE Riminton S Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency? Blood 116 2010 1228 1234 10.1182/blood-2010-03-272351 20466855 · DOI
  5. [5]Aydin SE Kilic SS Aytekin C Kumar A Porras O Renner ED Su H Freeman AF Engelhardt K Albert MH DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients J Clin Immunol 35 2015 189 198 10.1007/s10875-014-0126-0 25627830 · DOI
  6. [6]Engelhardt KR Gertz ME Keles S Schäffer AA Sigmund EC Glocker C Saghafi S Pourpak Z Ceja R Sassi A Graham LE Massaad MJ Mellouli F Ben-Mustapha I Khemiri M Kilic SS Etzioni A Freeman AF Thiel J Schulze I Al-Herz W Metin A Sanal Ö Tezcan I Yeganeh M Niehues T Dueckers G Weinspach S Patiroglu T Unal E Dasouki M Yilmaz M Genel F Aytekin C Kutukculer N Somer A Kilic M Reisli I Camcioglu Y Gennery AR Cant AJ Jones A Gaspar BH Arkwright PD Pietrogrande MC Baz Z Al-Tamemi S Lougaris V Lefranc G Megarbane A Boutros J Galal N Bejaoui M Barbouche M-R Geha RS Chatila TA Grimbacher B The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency J Allergy Clin Immunol 2015 402 412 10.1016/j.jaci.2014.12.1945 25724123 PMC4530066 · DOI
  7. [7]Keles S Chatila T Combined Immunodeficiency due to DOCK8 Deficiency: A Tribute to Prof. Isil Berat Barlan, M. D Turkish J Immunol 3 2015 76 83 10.5606/tji.2015.428 · DOI
  8. [8]Engelhardt KR McGhee S Winkler S Sassi A Woellner C Lopez-Herrera G Chen A Kim HS Lloret MG Schulze I Ehl S Thiel J Pfeifer D Veelken H Niehues T Siepermann K Weinspach S Reisli I Keles S Genel F Kutuculer N Camcioǧlu Y Somer A Karakoc-Aydiner E Barlan I Gennery A Metin A Degerliyurt A Pietrogrande MC Yeganeh M Baz Z Al-Tamemi S Klein C Puck JM Holland SM McCabe ERB Grimbacher B Chatila TA Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome J Allergy Clin Immunol 124 2009 10.1016/j.jaci.2009.10.038 PMC2818862 20004785 · DOI
  9. [9]Zhang Q Davis JC Lamborn IT Freeman AF Jing H Favreau AJ Matthews HF Davis J Turner ML Uzel G Holland SM Su HC Combined immunodeficiency associated with DOCK8 mutations N Engl J Med 361 2009 2046 2055 10.1056/NEJMoa0905506 19776401 PMC2965730 · DOI
  10. [10]Minegishi Y Saito M Tsuchiya S Tsuge I Takada H Hara T Kawamura N Ariga T Pasic S Stojkovic O Metin A Karasuyama H Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome Nature 448 2007 1058 1062 10.1038/nature06096 17676033 · DOI
  11. [11]Holland SM DeLeo FR Elloumi HZ Hsu AP Uzel G Brodsky N Freeman AF Demidowich A Davis J Turner ML Anderson VL Darnell DN Welch PA Kuhns DB Frucht DM Malech HL Gallin JI Kobayashi SD Whitney AR Voyich JM Musser JM Woellner C Schäffer AA Puck JM Grimbacher B STAT3 Mutations in the Hyper-IgE Syndrome N Engl J Med 357 2007 1608 1619 10.1056/NEJMoa073687 17881745 · DOI
  12. [12]Al-Herz W Ragupathy R Massaad MJ Al-Attiyah R Nanda A Engelhardt KR Grimbacher B Notarangelo L Chatila T Geha RS Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait Clin Immunol 143 2012 266 272 10.1016/j.clim.2012.03.002 22534316 PMC3893030 · DOI
  13. [13]Alsum Z Hawwari A Alsmadi O Al-Hissi S Borrero E Abu-Staiteh A Khalak HG Wakil S Eldali AM Arnaout R Al-Ghonaium A Al-Muhsen S Al-Dhekri H Al-Saud B Al-Mousa H Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients J Clin Immunol 33 2013 55 67 10.1007/s10875-012-9769-x 22968740 · DOI
  14. [14]Tóth B Pistár Z Csorba G Balogh I Kovács T Erdős M Maródi L Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification Eur J Haematol 91 2013 10.1111/ejh.12173 23859592 · DOI
  15. [15]Shah T Cale C Hadzic N Jones A Dedicator of cytokinesis 8 deficiency: A predisposition to sclerosing cholangitis Clin Immunol 155 2014 71 73 10.1016/j.clim.2014.09.001 25220305 · DOI
  16. [16]Jouhadi Z Khadir K Ailal F Bouayad K Nadifi S Engelhardt KR Grimbacher B Ten-Year Follow-Up of a DOCK8-Deficient Child With Features of Systemic Lupus Erythematosus Pediatrics 134 2014 e1458 e1463 10.1542/peds.2013-1383 25332498 · DOI
  17. [17]Dasouki M Okonkwo KC Ray A Folmsbeel CK Gozales D Keles S Puck JM Chatila T Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening Clin Immunol 141 2011 128 132 10.1016/j.clim.2011.06.003 21763205 PMC4210456 · DOI
  18. [18]Cuellar-Rodriguez J Freeman AF Grossman J Su H Parta M Murdock H Shah N Bollard C Kong H Moutsopoulos N Stone K Gea-Banacloche J Holland SM Hickstein DD Matched Related and Unrelated Donor Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency Biol Blood Marrow Transplant 21 2015 1037 1045 10.1016/j.bbmt.2015.01.022 25636378 PMC4426076 · DOI
  19. [19]Xue L Yang Y Wang S A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome J Eur Acad Dermatol Venereol 2014 10 12 10.1111/jdv.12394 24673638 · DOI
  20. [20]Ruiz-García R Lermo-Rojo S Martínez-Lostao L Mancebo E Mora-Díaz S Paz-Artal E Ruiz-Contreras J Anel A González-Granado LI Allende LM A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity J Allergy Clin Immunol 134 2014 10.1016/j.jaci.2014.01.023 24636087 · DOI
  21. [21]Keles S Jabara HH Reisli I McDonald DR Barlan I Hanna-Wakim R Dbaibo G Lefranc G Al-Herz W Geha RS Chatila TA Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy J Allergy Clin Immunol 133 2014 1753 5.e3 10.1016/j.jaci.2014.03.032 24767873 PMC4052613 · DOI
  22. [22]Jing H Zhang Q Zhang Y Hill BJ Dove CG Gelfand EW Atkinson TP Uzel G Matthews HF Mustillo PJ Lewis DB Kavadas FD Hanson IC Kumar AR Geha RS Douek DC Holland SM Freeman AF Su HC Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype J Allergy Clin Immunol 133 2014 1667 75 10.1016/j.jaci.2014.03.025 24797421 PMC4132167 · DOI
  23. [23]Sabry A Hauk PJ Jing H Su HC Stence NV Mirsky DM Nagel MA Abbott JK Dragone LL Armstrong-Wells J Curtis DJ Cohrs R Schmid DS Gilden D Gelfand EW Vaccine strain varicella-zoster virus–induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency J Allergy Clin Immunol 133 2014 1225 1227 10.1016/j.jaci.2013.11.031 24418481 PMC3972264 · DOI
  24. [24]Day-Williams AG Sun C Jelcic I McLaughlin H Harris T Martin R Carulli JP Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy J Clin Immunol 35 2014 92 96 10.1007/s10875-014-0114-4 25388448 PMC4306731 · DOI
  25. [25]Mizesko MC Banerjee PP Monaco-Shawver L Mace EM Bernal WE Sawalle-Belohradsky J Belohradsky BH Heinz V Freeman AF Sullivan KE Holland SM Torgerson TR Al-Herz W Chou J Hanson IC Albert MH Geha RS Renner ED Orange JS Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency J Allergy Clin Immunol 131 2013 840 848 10.1016/j.jaci.2012.12.1568 23380217 PMC3646579 · DOI
  26. [26]Jabara HH McDonald DR Janssen E Massaad MJ Ramesh N Borzutzky A Rauter I Benson H Schneider L Baxi S Recher M Notarangelo LD Wakim R Dbaibo G Dasouki M Al-Herz W Barlan I Baris S Kutukculer N Ochs HD Plebani A Kanariou M Lefranc G Reisli I Fitzgerald KA Golenbock D Manis J Keles S Ceja R Chatila TA Geha RS DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation Nat Immunol 13 2012 612 620 10.1038/ni.2305 22581261 PMC3362684 · DOI
  27. [27]Pai S-Y de Boer H Massaad MJ Chatila TA Keles S Jabara HH Janssen E Lehmann LE Hanna-Wakim R Dbaibo G McDonald DR Al-Herz W Geha RS Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency J Allergy Clin Immunol 134 2014 221 3 10.1016/j.jaci.2014.02.023 24698323 PMC6317337 · DOI
  28. [28]Al-Zahrani D Raddadi A Massaad M Keles S Jabara HH Chatila TA Geha R Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency Clin Immunol 153 2014 104 108 10.1016/j.clim.2014.04.005 24743019 PMC4112510 · DOI
  29. [29]Papan C Hagl B Heinz V Albert MH Ehrt O Sawalle-Belohradsky J Neumann J Ries M Bufler P Wollenberg A Renner ED Beneficial IFN-alpha treatment of tumorous herpes simplex blepharoconjunctivitis in dedicator of cytokinesis 8 deficiency J Allergy Clin Immunol 133 2014 1456 1458 10.1016/j.jaci.2014.02.008 24698314 · DOI
  30. [30]Gatz SA Benninghoff U Schütz C Schulz A Hönig M Pannicke U Holzmann K-H Schwarz K Friedrich W Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation Bone Marrow Transplant 46 2011 552 556 10.1038/bmt.2010.169 20622910 · DOI
  31. [31]McDonald DR Massaad MJ Johnston A Keles S Chatila T Geha RS Pai SY Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency J Allergy Clin Immunol 126 2010 1304 5.e3 10.1016/j.jaci.2010.07.034 20810158 PMC2998541 · DOI
  32. [32]Ghosh S Schuster FR Adams O Babor F Borkhardt A Comoli P Handgretinger R Lang P Laws HJ Siepermann M Meisel R Haploidentical stem cell transplantation in DOCK8 deficiency - Successful control of pre-existing severe viremia with a TCRaß/CD19-depleted graft and antiviral treatment Clin Immunol 152 2014 111 114 10.1016/j.clim.2014.03.006 24667686 · DOI
  33. [33]Metin A Tavil B Azık F Azkur D Ok-Bozkaya I Kocabas C Tunc B Uckan D Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome Pediatr Transplant 16 2012 398 399 10.1111/j.1399-3046.2011.01641.x 22248482 · DOI
  34. [34]Lambe T Crawford G Johnson AL Crockford TL Bouriez-Jones T Smyth AM Pham THM Zhang Q Freeman AF Cyster JG Su HC Cornall RJ DOCK8 is essential for T-cell survival and the maintenance of CD8 + T-cell memory Eur J Immunol 41 2011 3423 3435 10.1002/eji.201141759 21969276 PMC3517112 · DOI
  35. [35]Sanal O Jing H Ozgur T Ayvaz D Strauss-Albee DM Ersoy-Evans S Tezcan I Turkkani G Matthews HF Haliloglu G Yuce A Yalcin B Gokoz O Oguz KK Su HC Additional diverse findings expand the clinical presentation of DOCK8 deficiency J Clin Immunol 32 2012 698 708 10.1007/s10875-012-9664-5 22476911 PMC3732775 · DOI
  36. [36]Boztug H Karitnig-Weiß C Ausserer B Renner ED Albert MH Sawalle-Belohradsky J Belohradsky BH Mann G Horcher E Rümmele-Waibel A Geyeregger R Lakatos K Peters C Lawitschka A Matthes-Martin S Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen Pediatr Hematol Oncol 29 2012 585 94 10.3109/08880018.2012.714844 22897717 · DOI
  37. [37]Al Shekaili L Sheikh F Al Gazlan S Al Dhekri H Al Mousa H Al Ghonaium A Al Saud B Al Mohsen S Rehan Khaliq AM Al Sumayli S Al Zahrani M Dababo A AlKawi A Hawwari A Arnaout R Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation Clin Immunol 2016 6 11 10.1016/j.clim.2016.08.002 27890707 · DOI
  38. [38]Chang DR Toh J de Vos G Gavrilova T Early Diagnosis in Dedicator of Cytokinesis 8 (DOCK8) Deficiency J Pediatr 179 2016 33 35 10.1016/j.jpeds.2016.08.081 27671117 · DOI
  39. [39]Metin A Kanik-Yuksek S Ozkaya-Parlakay A Tezer H Giant herpes labialis in a child with DOCK8-deficient hyper-IgE syndrome Pediatr Neonatol 57 2016 79 80 10.1016/j.pedneo.2015.04.011 26148752 · DOI
  40. [40]Betts K Abusleme L Freeman AF Sarmadi M Fahle G Pittaluga S Cuellar-Rodriguez J Hickstein D Holland SM Su H Moutsopoulos NM A 17 -year old patient with DOCK8 deficiency, severe oral HSV-1 and aggressive periodontitis - A case of virally induced periodontitis? J Clin Virol 63 2015 46 50 10.1016/j.jcv.2014.12.003 25600604 PMC4327766 · DOI
  41. [41]Burbank AJ Shah SN Montgomery M Peden D Tarrant TK Weimer ET Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency Pediatr Allergy Immunol 27 2016 96 98 10.1111/pai.12451 26235511 PMC4724217 · DOI
  42. [42]Al-Herz W Chu JI van der Spek J Raghupathy R Massaad MJ Keles S Biggs CM Cockerton L Chou J Dbaibo G Elisofon SA Hanna-Wakim R Kim HB Lehmann LE McDonald DR Notarangelo LD Veys P Chatila TA Geha RS Gaspar HB Pai SY Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency J Allergy Clin Immunol 2015 10.1016/j.jaci.2016.02.022 PMC5354354 27130861 · DOI
  43. [43]Kienzler AK van Schouwenburg PA Taylor J Marwah I Sharma RU Noakes C Thomson K Sadler R Segal S Ferry B Taylor JC Blair E Chapel H Patel SY Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE Clin Immunol 163 2016 17 21 10.1016/j.clim.2015.12.003 26680607 PMC4758821 · DOI
  44. [44]AlKhater SA CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report BMC Neurol 16 2016 54 10.1186/s12883-016-0578-3 27113444 PMC4845487 · DOI
  45. [45]Happel CS Stone KD Freeman AF Shah NN Wang A Lyons JJ Guerrerio PA Hickstein DD Su HC Food allergies can persist after myeloablative hematopoietic stem cell transplantation in dedicator of cytokinesis 8–deficient patients J Allergy Clin Immunol 137 2016 1895 1898.e5 10.1016/j.jaci.2015.11.017 26827248 PMC4899149 · DOI
  46. [46]Azık F Azkur D Avcı Z Vezir E Işık P Tunç B Resolution of food-induced anaphylaxis in DOCK8-deficient patients following bone marrow transplantation 2015 112 115 26613234
  47. [47]Keles S Charbonnier LM Kabaleeswaran V Reisli I Genel F Gulez N Al-Herz W Ramesh N Perez-Atayde A Eeder NK Kutukculer N Wu H Geha RS Chatila TA DOCK8 Regulates STAT3 Activation and Promotes Th17 Cell Differentiation J Allergy Clin Immunol 2016 10.1016/j.jaci.2016.04.023 PMC5099100 27350570 · DOI
  48. [48]Bittner TC Pannicke U Renner ED Notheis G Hoffmann F Belohradsky BH Wintergerst U Hauser M Klein B Schwarz K Schmid I Albert MH Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation Klin Pädiatrie 222 2010 351 5 10.1055/s-0030-1265135 21058221 · DOI
  49. [49]Barlogis V Galambrun C Chambost H Lamoureux-Toth S Petit P Stephan JL Michel G Fischer A Picard C Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency J Allergy Clin Immunol 128 2011 420 422.e2 10.1016/j.jaci.2011.03.025 21546070 · DOI
  50. [50]Al-Abdulkareem AA Ballal SG Consanguineous marriage in an urban area of Saudi Arabia: Rates and adverse health effects on the offspring J Community Health 23 1998 75 83 10.1023/A:1018727005707 9526727 · DOI
  51. [51]Kaplan S Pinar G Kaplan B Aslantekin F Karabulut E Ayar B Dilmen U The Prevalence of Consanguineous Marriages and Affecting Factors in Turkey: a National Survey J Biosoc Sci 2016 1 15 10.1017/S0021932016000055 26892044 · DOI
  52. [52]Al-Gazali LI Bener A Abdulrazzaq YM Micallef R Al-Khayat AI Gaber T Consanguineous marriages in the United Arab Emirates J Biosoc Sci 29 1997 491 497 9881148
  53. [53]Ruusala A Aspenström P Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology FEBS Lett 572 2004 159 166 10.1016/j.febslet.2004.06.095 15304341 · DOI
  54. [54]Zhang Q Davis JC Dove CG Su HC Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome Dis Markers 29 2010 131 139 10.3233/DMA-2010-0737 21178272 PMC3835385 · DOI
  55. [55]Côté J-F Vuori K Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity J Cell Sci 115 2002 4901 4913 10.1242/jcs.00219 12432077 · DOI
  56. [56]Kulkarni K Yang J Zhang Z Barford D Multiple factors confer specific CDC42 and Rac protein activation by dedicator of cytokinesis (DOCK) nucleotide exchange factors J Biol Chem 286 2011 25341 25351 10.1074/jbc.M111.236455 21613211 PMC3137105 · DOI · Paper page
  57. [57]Côté JF Vuori K GEF what? Dock180 and related proteins help Rac to polarize cells in new ways Trends Cell Biol 17 2007 383 393 10.1016/j.tcb.2007.05.001 17765544 PMC2887429 · DOI
  58. [58]McGhee SA Chatila TA DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction Dis Markers 29 2010 151 6 10.3233/DMA-2010-0740 21178274 PMC3835630 · DOI
  59. [59]Premkumar L Bobkov AA Patel M Jaroszewski L Bankston LA Stec B Vuori K Côté JF Liddington RC Structural basis of membrane targeting by the Dock180 family of Rho family guanine exchange factors (Rho -GEFs) J Biol Chem 285 2010 13211 13222 10.1074/jbc.M110.102517 20167601 PMC2857062 · DOI · Paper page
  60. [60]Su HC Dedicator of cytokinesis 8 (DOCK8) deficiency Curr Opin Allergy Clin Immunol 10 2010 515 520 10.1097/ACI.0b013e32833fd718 20864884 PMC3096565 · DOI
  61. [61]Harada Y Tanaka Y Terasawa M Pieczyk M Habiro K Katakai T Kyoko HS Mutsuko KN Nishizaki T Shirouzu M Duan X Uruno T Nishikimi A Sanematsu F Yokoyama S Stein JV Kinashi T Fukui Y DOCK8 is a CDC42 activator critical for interstitial dendritic cell migration during immune responses Blood 119 2012 4451 4461 10.1182/blood-2012-01-407098 22461490 PMC3418773 · DOI · Paper page
  62. [62]Singh AK Eken A Fry M Bettelli E Oukka M DOCK8 regulates protective immunity by controlling the function and survival of RORγt+ ILCs Nat Commun 5 2014 4603 10.1038/ncomms5603 25091235 PMC4135384 · DOI
  63. [63]Randall KL Chan SS Ma CS Fung I Mei Y Yabas M Tan A Arkwright PD Al Suwairi W Lugo Reyes SO Yamazaki-Nakashimada MA Garcia-Cruz Mde L Smart JM Picard C Okada S Jouanguy E Casanova JL Lambe T Cornall RJ Russell S Oliaro J Tangye SG Bertram EM Goodnow CC DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice J Exp Med 208 2011 2305 2320 10.1084/jem.20110345 22006977 PMC3201196 · DOI
  64. [64]Ham H Guerrier S Kim J Schoon RA Anderson EL Hamann MJ Lou Z Billadeau DD Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity J Immunol 190 2013 3661 9 10.4049/jimmunol.1202792 23455509 PMC3841075 · DOI
  65. [65]Zhang Q Dove CG Hor JL Murdock HM Strauss-Albee DM Garcia JA Mandl JN Grodick RA Jing H Chandler-Brown DB Lenardo TE Crawford G Matthews HF Freeman AF Cornall RJ Germain RN Mueller SN Su HC DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity J Exp Med 211 2014 2549 2566 10.1084/jem.20141307 25422492 PMC4267229 · DOI
  66. [66]Randall KL Lambe T Johnson AL Treanor B Crockford L Bouriez-jones T Alston D Cyster JG Michael J DOCK8 mutations cripple B cell immune synapse germinal centers and long-lived antibody production 10 2012 1283 1291 10.1038/ni.1820.DOCK8 PMC3437189 19898472 · DOI
  67. [67]Ma CS Chew GYJ Simpson N Priyadarshi A Wong M Grimbacher B Fulcher DA Tangye SG Cook MC Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3 J Exp Med 205 2008 1551 7 10.1084/jem.20080218 18591410 PMC2442632 · DOI · Paper page
  68. [68]Janssen E Tohme M Hedayat M Leick M Kumari S Ramesh N Massaad MJ Ullas S Azcutia V Goodnow CC Randall KL Qiao Q Wu H Al-Herz W Cox D Hartwig J Irvine DJ Luscinskas FW Geha RS A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton J Clin Invest 126 2016 3837 3851 10.1172/JCI85774 27599296 PMC5096816 · DOI
  69. [69]Blundell MP Worth A Bouma G Thrasher AJ The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function Dis Markers 29 2010 157 175 10.3233/DMA-2010-0735 21178275 PMC3835520 · DOI
  70. [70]Janssen E Morbach H Ullas S Bannock JM Massad C Menard L Barlan I Lefranc G Su H Dasouki M Al-Herz W Keles S Chatila T Geha RS Meffre E Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells J Allergy Clin Immunol 134 2014 1365 1374 10.1016/j.jaci.2014.07.042 25218284 PMC4261031 · DOI
  71. [71]Siegel AM Stone KD Cruse G Lawrence MG Olivera A Jung MY Barber JS Freeman AF Holland SM O’Brien M Jones N Wisch LB Kong HH Desai A Farber O Gilfillan AM Rivera J Milner JD Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation J Allergy Clin Immunol 132 2013 1388 1396.e3 10.1016/j.jaci.2013.08.045 24184145 PMC3881191 · DOI · Paper page
  72. [72]Chu EY Freeman AF Jing H Cowen EW Davis J Su HC Holland SM Turner MLC Cutaneous Manifestations of DOCK8 Deficiency Syndrome Arch Dermatol 148 2012 79 84 10.1001/archdermatol.2011.262 21931011 PMC4103903 · DOI
  73. [73]Janssen E Tsitsikov E Al-Herz W Lefranc G Megarbane A Dasouki M Bonilla FA Chatila T Schneider L Geha RS Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis Clin Immunol 150 2014 220 4 10.1016/j.clim.2013.12.006 24440647 PMC3924424 · DOI
  74. [74]Dobbs K Domínguez Conde C Zhang S-Y Parolini S Audry M Chou J Haapaniemi E Keles S Bilic I Okada S Massaad MJ Rounioja S Alwahadneh AM Serwas NK Capuder K Çiftçi E Felgentreff K Ohsumi TK Pedergnana V Boisson B Haskoloğlu Ş Ensari A Schuster M Moretta A Itan Y Patrizi O Rozenberg F Lebon P Saarela J Knip M Petrovski S Goldstein DB Parrott RE Savas B Schambach A Tabellini G Bock C Chatila TA Comeau AM Geha RS Abel L Buckley RH İkincioğulları A Al-Herz W Helminen M Doğu F Casanova J-L Boztuğ K Notarangelo LD Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections N Engl J Med 372 2015 2409 22 10.1056/NEJMoa1413462 26083206 PMC4480434 · DOI · Paper page
  75. [75]Nishikimi A Kukimoto-Niino M Yokoyama S Fukui Y Immune regulatory functions of DOCK family proteins in health and disease Exp Cell Res 319 2013 2343 2349 10.1016/j.yexcr.2013.07.024 23911989 · DOI · Paper page

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Authors
Biggs, C. M., Keles, S., & Chatila, T. A.
Affiliations
Boston Children's Hospital (US)
Corresponding author
Chatila, Talal A.
ORCID
Venue
Clinical Immunology
Publisher
Elsevier BV
Published
2017-08
Volume
181
Pages
75-82
ISSN
1521-6616 (ISSN-L)
DOI
10.1016/j.clim.2017.06.003
PMC
PMC5555255
OpenAlex
W2626877998
Cited by
178
References
0
Citations by year
2026: 18 · 2025: 18 · 2024: 16 · 2023: 20 · 2022: 20 · 2021: 32 · 2020: 19 · 2019: 16 · 2018: 15 · 2017: 4
FWCI
1.52
Type
journal article
Language
en
Open access
Licence
Locations
  • Clinical Immunology (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • AllerGen
  • Canadian Allergy, Asthma and Immunology Foundation
  • National Institutes of Health (2R01AI065617, T32AI007512)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
Keywords
DOCK8 deficiency, primary immunodeficiency, guanine nucleotide exchange factor, actin cytoskeleton, STAT3 activation, leukocyte migration, atopy, autoimmunity, infection susceptibility, cancer
MeSH terms
Autoimmune Diseases, Cell Movement, Cell Survival, Eczema, Humans, Hypersensitivity, Immunity, Innate, Immunologic Deficiency Syndromes, Infections, Inflammation, Actin Cytoskeleton, Neoplasms, Recurrence, Respiratory Tract Diseases, Skin Diseases, Viral, Hematopoietic Stem Cell Transplantation, Epstein-Barr Virus Infections, Guanine Nucleotide Exchange Factors, Active Transport, Cell Nucleus, Papillomavirus Infections, STAT3 Transcription Factor, Adaptive Immunity

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