{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T01:27:17Z","timestamp":1789090037584,"version":"build-2803163510"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Immunol Res"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s12026-024-09571-9","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T09:04:07Z","timestamp":1733994247000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and molecular profile of 20 patients with DOCK8 deficiency\u2014a single-center experience from Southern India"],"prefix":"10.1007","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8467-2290","authenticated-orcid":false,"given":"Neha","family":"Singh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya","family":"Ranganath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ananthvikas","family":"Jayaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prerna","family":"Jhawar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udhaya","family":"Kotecha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7720-850X","authenticated-orcid":false,"given":"Jyothi","family":"Janardhanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harish","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. A","family":"Sudheer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed Mohammed Naushad","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karthik","family":"Arigela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chetan","family":"Ginigeri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5048-9727","authenticated-orcid":false,"given":"Sagar","family":"Bhattad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,12]]},"reference":[{"key":"9571_CR1","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.clim.2017.06.003","volume":"181","author":"CM BIggs","year":"2017","unstructured":"BIggs CM, Keles S, Chatila TA. (2017) DOCK8 deficiency: insights into pathophysiology, clinical features and management. Clin Immunol. 2017;181:75\u201382.","journal-title":"Clin Immunol"},{"issue":"1","key":"9571_CR2","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/S0022-3476(03)00449-9","volume":"144","author":"ED Renner","year":"2004","unstructured":"Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144(1):93\u20139.","journal-title":"J Pediatr"},{"key":"9571_CR3","doi-asserted-by":"publisher","first-page":"2046","DOI":"10.1056\/NEJMoa0905506","volume":"361","author":"Q Zhang","year":"2009","unstructured":"Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361:2046\u201355.","journal-title":"N Engl J Med"},{"issue":"9","key":"9571_CR4","doi-asserted-by":"publisher","first-page":"635322","DOI":"10.3389\/fped.2021.635322","volume":"14","author":"E Venegas-Montoya","year":"2021","unstructured":"Venegas-Montoya E, Staines-Boone AT, S\u00e1nchez-S\u00e1nchez LM, Garc\u00eda-Campos JA, C\u00f3rdova-Gurrola RA, Salazar-Galvez Y, et al. Case report: DOCK8 deficiency without hyper-IgE in a child with a large deletion. Front Pediatr. 2021;14(9):635322.","journal-title":"Front Pediatr"},{"issue":"2","key":"9571_CR5","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s10875-014-0126-0","volume":"35","author":"SE Aydin","year":"2015","unstructured":"Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015;35(2):189\u201398.","journal-title":"J Clin Immunol"},{"issue":"3","key":"9571_CR6","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.phoj.2017.10.001","volume":"2","author":"D Thakkar","year":"2017","unstructured":"Thakkar D, Jain N, Ramzan M, Katewa S, Yadav SP. Dedicator of cytokinesis 8 mutation related combined immune deficiency: a single centre experience from India. Pediatr Hematol Oncol J. 2017;2(3):55\u20138.","journal-title":"Pediatr Hematol Oncol J"},{"issue":"3","key":"9571_CR7","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1093\/ced\/llad345","volume":"49","author":"AK Jindal","year":"2024","unstructured":"Jindal AK, Sil A, Aggarwal R, Tyagi R, Mondal S, Singh A, et al. Clinical spectrum of DOCK8 deficiency from a tertiary care center in North India. Clin Exp Dermatol. 2024;49(3):226\u201334.","journal-title":"Clin Exp Dermatol"},{"issue":"1","key":"9571_CR8","doi-asserted-by":"publisher","first-page":"e13276","DOI":"10.1111\/sji.13276","volume":"98","author":"V Gowri","year":"2023","unstructured":"Gowri V, Chougule A, Gupta M, Taur P, Iyengar VV, Sivasankaran M, et al. Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India. Scand J Immunol. 2023;98(1):e13276.","journal-title":"Scand J Immunol"},{"issue":"13","key":"9571_CR9","doi-asserted-by":"publisher","first-page":"2549","DOI":"10.1084\/jem.20141307","volume":"211","author":"Q Zhang","year":"2014","unstructured":"Zhang Q, Dove CG, Hor JL, Murdock HM, Strauss-Albee DM, Garcia JA, et al. DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med. 2014;211(13):2549\u201366.","journal-title":"J Exp Med"},{"issue":"3","key":"9571_CR10","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.clim.2012.03.002","volume":"143","author":"W Al-Herz","year":"2012","unstructured":"Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, et al. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. Clin Immunol. 2012;143(3):266\u201372.","journal-title":"Clin Immunol"},{"issue":"3","key":"9571_CR11","doi-asserted-by":"publisher","first-page":"324","DOI":"10.4103\/0019-5154.156483","volume":"60","author":"SV Patil","year":"2015","unstructured":"Patil SV, Sharma YK, Dash KN, Deo KS, Mahajan PM. A case of hyper immunoglobulin-E syndrome associated with scrotal tongue and intraoral hyperpigmentation. Indian J Dermatol. 2015;60(3):324.","journal-title":"Indian J Dermatol"},{"issue":"2","key":"9571_CR12","doi-asserted-by":"publisher","first-page":"173","DOI":"10.5005\/jp-journals-10005-2773","volume":"17","author":"A Anand","year":"2024","unstructured":"Anand A, Raja T, Thakur V, Agarwal N. Evaluation of the effect of parental smoking on gingival melanin pigmentation in children. Int J Clin Pediatr Dent. 2024;17(2):173\u20135.","journal-title":"Int J Clin Pediatr Dent"},{"issue":"6","key":"9571_CR13","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1016\/j.jaci.2009.10.038","volume":"124","author":"KR Engelhardt","year":"2009","unstructured":"Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, et al. 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. 2009;124(6):1289-302.e4. https:\/\/doi.org\/10.1016\/j.jaci.2009.10.038.","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"9571_CR14","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1007\/s12519-019-00251-5","volume":"16","author":"LQ Zhang","year":"2020","unstructured":"Zhang LQ, Li XB, Bao YG. DOCK8 deficiency with mediastinal lymph node tuberculosis. World J Pediatr. 2020;16(2):213\u20134.","journal-title":"World J Pediatr"},{"key":"9571_CR15","doi-asserted-by":"publisher","first-page":"1365","DOI":"10.1016\/j.jaci.2014.07.042","volume":"134","author":"E Janssen","year":"2014","unstructured":"Janssen E, Morbach H, Ullas S, Bannock JM, Massad C, Menard L, et al. Dedicator of cytokinesis 8\u2013 deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. J Allergy Clin Immunol. 2014;134:1365\u201374.","journal-title":"J Allergy Clin Immunol"},{"issue":"7","key":"9571_CR16","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1111\/all.12868","volume":"71","author":"PA Mahesh","year":"2016","unstructured":"Mahesh PA, Wong GW, Ogorodova L, Potts J, Leung TF, Fedorova O, et al. Prevalence of food sensitization and probable food allergy among adults in India: the EuroPrevall INCO study. Allergy. 2016;71(7):1010\u20139.","journal-title":"Allergy"},{"issue":"2","key":"9571_CR17","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1111\/all.15560","volume":"78","author":"GCI Spolidoro","year":"2023","unstructured":"Spolidoro GCI, Amera YT, Ali MM, Nyassi S, Lisik D, Ioannidou A, et al. Frequency of food allergy in Europe: an updated systematic review and meta-analysis. Allergy. 2023;78(2):351\u201368.","journal-title":"Allergy"},{"key":"9571_CR18","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1155\/2010\/972591","volume":"29","author":"Q Zhang","year":"2010","unstructured":"Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers. 2010;29:131\u20139.","journal-title":"Dis Markers"},{"issue":"1","key":"9571_CR19","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1186\/s12883-021-02324-3","volume":"21","author":"J Yang","year":"2021","unstructured":"Yang J, Liu Y. Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report. BMC Neurol. 2021;21(1):288.","journal-title":"BMC Neurol"},{"issue":"3","key":"9571_CR20","doi-asserted-by":"publisher","first-page":"848","DOI":"10.1016\/j.jaip.2018.10.035","volume":"7","author":"SE Aydin","year":"2019","unstructured":"Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, et al. Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency. J Allergy Clin Immunol Pract. 2019;7(3):848\u201355.","journal-title":"J Allergy Clin Immunol Pract"}],"container-title":["Immunologic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12026-024-09571-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12026-024-09571-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12026-024-09571-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T07:30:51Z","timestamp":1770190251000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12026-024-09571-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,12]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["9571"],"URL":"https:\/\/doi.org\/10.1007\/s12026-024-09571-9","relation":{},"ISSN":["0257-277X","1559-0755"],"issn-type":[{"value":"0257-277X","type":"print"},{"value":"1559-0755","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,12]]},"assertion":[{"value":"2 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"8"}}