{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T04:07:12Z","timestamp":1792296432204,"version":"4.4.0"},"reference-count":121,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T00:00:00Z","timestamp":1760918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T00:00:00Z","timestamp":1760918400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Immunol Res"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s12026-025-09708-4","type":"journal-article","created":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T23:44:34Z","timestamp":1760917474000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation"],"prefix":"10.1007","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-1882","authenticated-orcid":false,"given":"Aleksandra","family":"Szczawi\u0144ska-Pop\u0142onyk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,20]]},"reference":[{"key":"9708_CR1","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1097\/MOP.0000000000001331","volume":"36","author":"E Campbell","year":"2024","unstructured":"Campbell E, Shaker MS, Williams KW. Clinical updates in inborn errors of immunity: a focus on the noninfectious clinical manifestations. Curr Opin Pediatr. 2024;36:228\u201336. https:\/\/doi.org\/10.1097\/MOP.0000000000001331.","journal-title":"Curr Opin Pediatr"},{"key":"9708_CR2","doi-asserted-by":"publisher","first-page":"353","DOI":"10.3389\/fped.2019.00353","volume":"7","author":"MO Delmonte","year":"2019","unstructured":"Delmonte MO, Castagnoli R, Calzoni E, Notarangelo LD. Inborn errors of immunity with immune dysregulation: from bench to bedside. Front Pediatr. 2019;7:353. https:\/\/doi.org\/10.3389\/fped.2019.00353.","journal-title":"Front Pediatr"},{"key":"9708_CR3","doi-asserted-by":"publisher","first-page":"725587","DOI":"10.3389\/fimmu.2021.725587","volume":"12","author":"A Ren","year":"2021","unstructured":"Ren A, Yin W, Miller H, Westberg LS, Candotti F, Park CS, et al. Novel discoveries in immune dysregulation in inborn errors of immunity. Front Immunol. 2021;12:725587. https:\/\/doi.org\/10.3389\/fimmu.2021.725587.","journal-title":"Front Immunol"},{"key":"9708_CR4","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1038\/s41423-020-00626-z","volume":"18","author":"G Sogkas","year":"2021","unstructured":"Sogkas G, Atschekzei F, Adriawan IR, Dubrowinskaja N, Witte T, Schmidt RE. Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity. Cell Mol Immunol. 2021;18:1122\u201340. https:\/\/doi.org\/10.1038\/s41423-020-00626-z.","journal-title":"Cell Mol Immunol"},{"key":"9708_CR5","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1097\/ACI.0000000000000689","volume":"20","author":"AY Chan","year":"2020","unstructured":"Chan AY, Torgerson TR. PIRD: Primary Immune Regulatory Disorders: a growing universe of immune dysregulation. Curr Opin Allergy Clin Immunol. 2020;20:582\u201390. https:\/\/doi.org\/10.1097\/ACI.0000000000000689.","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"9708_CR6","doi-asserted-by":"publisher","first-page":"831279","DOI":"10.3389\/fimmu.2022.831279","volume":"13","author":"KL Smith","year":"2022","unstructured":"Smith KL, Dai D, Modi BP, Sara R, Garabedian E, Marsh RA, et al. Inborn errors of immunity associated with type 2 inflammation in the USIDNET registry. Front Immunol. 2022;13:831279. https:\/\/doi.org\/10.3389\/fimmu.2022.831279.","journal-title":"Front Immunol"},{"key":"9708_CR7","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1016\/j.jaci.2021.08.008","volume":"148","author":"M Vaseghi-Shanjani","year":"2021","unstructured":"Vaseghi-Shanjani M, Smith KL, Sara RJ, Modi BP, Branch A, Sharma M, et al. Inborn errors of immunity manifesting as atopic disorders. J Allergy Clin Immunol. 2021;148:1130\u20139. https:\/\/doi.org\/10.1016\/j.jaci.2021.08.008.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR8","doi-asserted-by":"publisher","first-page":"860821","DOI":"10.3389\/fimmu.2022.860821","volume":"13","author":"RW Nelson","year":"2022","unstructured":"Nelson RW, Geha RS, McDonald DR. Inborn errors of the immune system associated with atopy. Front Immunol. 2022;13:860821. https:\/\/doi.org\/10.3389\/fimmu.2022.860821.","journal-title":"Front Immunol"},{"key":"9708_CR9","doi-asserted-by":"publisher","first-page":"e8770","DOI":"10.1002\/ccr3.8770","volume":"12","author":"P Kostova","year":"2024","unstructured":"Kostova P, Petrova G, Shahid M, Papochieva V, Miteva D, Yordanova I, et al. Netherton syndrome- a therapeutic challenge in childhood. Clin Case Rep. 2024;12:e8770. https:\/\/doi.org\/10.1002\/ccr3.8770.","journal-title":"Clin Case Rep"},{"key":"9708_CR10","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. DOCK8 deficiency: Insight into pathogenesis, clinical features and management. Clin Immunol. 2017;181:75\u201382. https:\/\/doi.org\/10.1016\/j.clim.2017.06.003.","journal-title":"Clin Immunol"},{"key":"9708_CR11","doi-asserted-by":"publisher","first-page":"3752","DOI":"10.1016\/j.jaip.2021.05.032","volume":"9","author":"D Cagdas","year":"2021","unstructured":"Cagdas D, Halacli SO, Tan C, Esenboga S, Karaatmaca B, Cetinkaya PG, et al. Diversity in Serine\/Treonine Protein Kinase 4 deficiency and review of the literature. J Allergy Clin Immunol Pract. 2021;9:3752\u201366. https:\/\/doi.org\/10.1016\/j.jaip.2021.05.032.","journal-title":"J Allergy Clin Immunol Pract"},{"key":"9708_CR12","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1016\/j.jaci.2022.06.023","volume":"150","author":"SB DeVore","year":"2022","unstructured":"DeVore SB, Khurana Hershey GK. The role of the CBM complex in allergic inflammation and disease. J Allergy Clin Immunol. 2022;150:1011\u201330. https:\/\/doi.org\/10.1016\/j.jaci.2022.06.023.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR13","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1016\/j.jaci.2019.03.009","volume":"143","author":"HY Lu","year":"2019","unstructured":"Lu HY, Biggs CM, Blanchard-Rohner G, Fung S, Sharma M, Turvey SE. Germline CBM-opathies: from immunodeficiency to atopy. J Allergy Clin Immunol. 2019;143:1661\u201373. https:\/\/doi.org\/10.1016\/j.jaci.2019.03.009.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR14","doi-asserted-by":"publisher","first-page":"831","DOI":"10.3389\/fimmu.2020.00831","volume":"11","author":"N Sharifinejad","year":"2020","unstructured":"Sharifinejad N, Jamee M, Zaki-Dizaji M, Lo B, Shaghaghi M, Mohammadi H, et al. Clinical, immunological, and genetic features in 49 patients with ZAP-70 deficiency: a systematic review. Front Immunol. 2020;11:831. https:\/\/doi.org\/10.3389\/fimmu.2020.00831.","journal-title":"Front Immunol"},{"key":"9708_CR15","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.coi.2021.04.007","volume":"72","author":"Y Chen","year":"2021","unstructured":"Chen Y, Spencer S, Laurence A, Thaventhiran JE, Uhlig HH. Inborn errors of IL-6 family cytokine responses. Curr Opin Immunol. 2021;72:135\u201345. https:\/\/doi.org\/10.1016\/j.coi.2021.04.007.","journal-title":"Curr Opin Immunol"},{"key":"9708_CR16","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1093\/hmg\/ddab035","volume":"30","author":"A Materna-Kiryluk","year":"2021","unstructured":"Materna-Kiryluk A, Pollak A, Gawalski K, Szczawi\u0144ska-Pop\u0142onyk A, Rydzy\u0144ska Z, Sosnowska A, et al. Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy. Hum Mol Genet. 2021;30:226\u201333. https:\/\/doi.org\/10.1093\/hmg\/ddab035.","journal-title":"Hum Mol Genet"},{"key":"9708_CR17","doi-asserted-by":"publisher","first-page":"102326","DOI":"10.1016\/j.coi.2023.102326","volume":"82","author":"V Beziat","year":"2023","unstructured":"Beziat V, Fieschi C, Momenilandi M, Migaud M, Belaid B, Djidjik R, et al. Inherited human ZNF341 deficiency. Curr Opin Immunol. 2023;82:102326. https:\/\/doi.org\/10.1016\/j.coi.2023.102326.","journal-title":"Curr Opin Immunol"},{"key":"9708_CR18","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1093\/rheumatology\/keaa165","volume":"60","author":"C Kosukcu","year":"2021","unstructured":"Kosukcu C, Taskiran EZ, Batu ED, Sag E, Bilginer Y, Alikasifoglu M, et al. Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? Rheumatology. 2021;60:607\u201316. https:\/\/doi.org\/10.1093\/rheumatology\/keaa165.","journal-title":"Rheumatology"},{"key":"9708_CR19","doi-asserted-by":"publisher","first-page":"2177","DOI":"10.3390\/diagnostics12092177","volume":"12","author":"C Pan","year":"2022","unstructured":"Pan C, Zhao A, Li M. Atopic dermatitis-like genodermatosis: disease diagnosis and management. Diagnostics. 2022;12:2177. https:\/\/doi.org\/10.3390\/diagnostics12092177.","journal-title":"Diagnostics"},{"key":"9708_CR20","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1111\/pai.13633","volume":"33","author":"BL Cinicola","year":"2022","unstructured":"Cinicola BL, Corrente S, Castagnoli R, Lougaris V, Giardino G, Leonardi L, et al. Primary atopic disorders and chronic skin disease. Pediatr Allergy Immunol. 2022;33:65\u20138. https:\/\/doi.org\/10.1111\/pai.13633.","journal-title":"Pediatr Allergy Immunol"},{"key":"9708_CR21","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1007\/s10875-021-00980-1","volume":"41","author":"SG Tangye","year":"2021","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. The ever-increasing array of novel inborn errors of immunity: an interim update of the IUIS Committee. J Clin Immunol. 2021;41:24\u201364. https:\/\/doi.org\/10.1007\/s10875-021-00980-1.","journal-title":"J Clin Immunol"},{"key":"9708_CR22","doi-asserted-by":"publisher","first-page":"e20250002","DOI":"10.70962\/jhi.20250002","volume":"1","author":"AA Bousfiha","year":"2025","unstructured":"Bousfiha AA, Jeddane L, Moundir A, Poli MC, Aksentijevich I, Cunningham-Rundles C, et al. The 2024 update of IUIS phenotypic classification of human inborn errors of immunity. J Human Immunity. 2025;1:e20250002. https:\/\/doi.org\/10.70962\/jhi.20250002.","journal-title":"J Human Immunity"},{"key":"9708_CR23","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/j.alit.2021.07.007","volume":"70","author":"Y Minegishi","year":"2021","unstructured":"Minegishi Y. Hyper-IgE syndrome, 2021 update. Allergol Int. 2021;70:407\u201314. https:\/\/doi.org\/10.1016\/j.alit.2021.07.007.","journal-title":"Allergol Int"},{"key":"9708_CR24","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1111\/imcb.12209","volume":"97","author":"T Al-Shaikhly","year":"2019","unstructured":"Al-Shaikhly T, Ochs H. Hyper-IgE syndromes, clinical and molecular characteristics. Immunol Cell Biol. 2019;97:368\u201379. https:\/\/doi.org\/10.1111\/imcb.12209.","journal-title":"Immunol Cell Biol"},{"key":"9708_CR25","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.iac.2018.08.007","volume":"39","author":"JRE Bergerson","year":"2019","unstructured":"Bergerson JRE, Freeman AF. An update on syndromes with a hyper-IgE phenotype. Immunol Allergy Clin North Am. 2019;39:49\u201361. https:\/\/doi.org\/10.1016\/j.iac.2018.08.007.","journal-title":"Immunol Allergy Clin North Am"},{"key":"9708_CR26","doi-asserted-by":"publisher","first-page":"253","DOI":"10.2174\/1573396320666230912103124","volume":"20","author":"S Gracci","year":"2024","unstructured":"Gracci S, Novelli T, D\u2019Elios S, Bernardini R, Peroni D. Hyper IgE syndromes. Curr Pediatr Rev. 2024;20:253\u201364. https:\/\/doi.org\/10.2174\/1573396320666230912103124.","journal-title":"Curr Pediatr Rev"},{"key":"9708_CR27","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.1084\/jem.20140280","volume":"212","author":"AY Kreins","year":"2015","unstructured":"Kreins AY, Ciancanelli MJ, Okada S, Kong X, Ramirez-Alejo N, Kilic SS, et al. Human TYK2 deficiency: mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med. 2015;212:1641\u201362. https:\/\/doi.org\/10.1084\/jem.20140280.","journal-title":"J Exp Med"},{"key":"9708_CR28","doi-asserted-by":"publisher","first-page":"e20220094","DOI":"10.1084\/jem.20220094","volume":"219","author":"M Ogishi","year":"2022","unstructured":"Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, et al. Impaired IL-23-dependent induction of IFN-\u03b3 underlies mycobacterial disease in patients with inherited TYK2 deficiency. J Exp Med. 2022;219:e20220094. https:\/\/doi.org\/10.1084\/jem.20220094.","journal-title":"J Exp Med"},{"key":"9708_CR29","doi-asserted-by":"publisher","first-page":"e13671","DOI":"10.1111\/pai.13671","volume":"33","author":"G Lv","year":"2022","unstructured":"Lv G, Sun G, Wu P, Du X, Zeng T, Wen W, et al. Novel mutations of TYK2 leading to divergent clinical phenotypes. Pediatr Allergy Immunol. 2022;33:e13671. https:\/\/doi.org\/10.1111\/pai.13671.","journal-title":"Pediatr Allergy Immunol"},{"key":"9708_CR30","doi-asserted-by":"publisher","first-page":"864","DOI":"10.1007\/s10875-021-01051-1","volume":"41","author":"C Tsifilis","year":"2021","unstructured":"Tsifilis C, Freeman AF, Gennery AR. STAT3 hyper-IgE syndrome- an update and unanswered questions. J Clin Immunol. 2021;41:864\u201380. https:\/\/doi.org\/10.1007\/s10875-021-01051-1.","journal-title":"J Clin Immunol"},{"key":"9708_CR31","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1111\/pde.15072","volume":"39","author":"A Nihal","year":"2022","unstructured":"Nihal A, Comstock JR, Holland KE, Singh AM, Seroogy CM, Arkin LM. Clearance of atypical cutaneous manifestations of hyper-IgE syndrome with dupilumab. Pediatr Dermatol. 2022;39:940\u20132. https:\/\/doi.org\/10.1111\/pde.15072.","journal-title":"Pediatr Dermatol"},{"key":"9708_CR32","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15780","author":"JK Dick","year":"2024","unstructured":"Dick JK, Boull C, Pozos TC, Maguiness SM. Improvement in atopic dermatitis and recurrent infection with dupilumab in children with distinct genetic types of hyper-IgE syndrome: a case series and literature review. Pediatr Dermatol. 2024. https:\/\/doi.org\/10.1111\/pde.15780.","journal-title":"Pediatr Dermatol"},{"key":"9708_CR33","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1093\/cei\/uxad007","volume":"212","author":"J Mackie","year":"2023","unstructured":"Mackie J, Ma CS, Tangye SG, Guerin A. The ups and downs of STAT3 function: too much, too little and human immune dysregulation. Clin Exp Immunol. 2023;212:107\u201316. https:\/\/doi.org\/10.1093\/cei\/uxad007.","journal-title":"Clin Exp Immunol"},{"key":"9708_CR34","doi-asserted-by":"publisher","first-page":"108988","DOI":"10.1016\/j.clim.2022.108988","volume":"237","author":"A Gharehzadehshirazi","year":"2022","unstructured":"Gharehzadehshirazi A, Amini A, Rezaei N. Hyper IgE syndromes: a clinical approach. Clin Immunol. 2022;237:108988. https:\/\/doi.org\/10.1016\/j.clim.2022.108988.","journal-title":"Clin Immunol"},{"key":"9708_CR35","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1038\/s41419-024-07180-w","volume":"15","author":"H Gu","year":"2024","unstructured":"Gu H, Xie M, Zhao S, Luo X, Huang Y, Yang L, et al. DOCK8 gene mutation alters cell subsets, BCR signaling and cell metabolism in B cells. Cell Death Dis. 2024;15:871. https:\/\/doi.org\/10.1038\/s41419-024-07180-w.","journal-title":"Cell Death Dis"},{"key":"9708_CR36","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1111\/pai.13236","volume":"31","author":"S Haskologlu","year":"2020","unstructured":"Haskologlu S, Bal SK, Islamoglu C, Aytekin C, Guner S, Sevinc S, et al. Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency. Pediatr Allergy Immunol. 2020;31:515\u201327. https:\/\/doi.org\/10.1111\/pai.13236.","journal-title":"Pediatr Allergy Immunol"},{"key":"9708_CR37","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1111\/imr.12723","volume":"287","author":"HC Su","year":"2019","unstructured":"Su HC, Jing H, Freeman AF. Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. Immunol Rev. 2019;287:9\u201319. https:\/\/doi.org\/10.1111\/imr.12723.","journal-title":"Immunol Rev"},{"key":"9708_CR38","doi-asserted-by":"publisher","first-page":"10645","DOI":"10.1016\/j.clim.2020.108645","volume":"223","author":"N Kasap","year":"2021","unstructured":"Kasap N, Celik V, Isik S, Cennetoglu P, Kiykim A, Eltan SB, et al. A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis. Clin Immunol. 2021;223:10645. https:\/\/doi.org\/10.1016\/j.clim.2020.108645.","journal-title":"Clin Immunol"},{"issue":"6","key":"9708_CR39","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1097\/MOP.0000000000000158","volume":"26","author":"L Yang","year":"2014","unstructured":"Yang L, Fliegauf M, Grimbacher B. Hyper-IgE syndromes: reviewing PGM3 deficiency. Curr Opin Pediatr. 2014;26(6):697\u2013703. https:\/\/doi.org\/10.1097\/MOP.0000000000000158.","journal-title":"Curr Opin Pediatr"},{"key":"9708_CR40","doi-asserted-by":"publisher","first-page":"102353","DOI":"10.1016\/j.coi.2023.102353","volume":"84","author":"JD Milner","year":"2023","unstructured":"Milner JD. ERBIN and phosphoglucomutase 3 deficiency. Curr Opin Immunol. 2023;84:102353. https:\/\/doi.org\/10.1016\/j.coi.2023.102353.","journal-title":"Curr Opin Immunol"},{"key":"9708_CR41","doi-asserted-by":"publisher","first-page":"1638","DOI":"10.1016\/j.jaci.2018.12.987","volume":"143","author":"M Ben-Ali","year":"2019","unstructured":"Ben-Ali M, Ben-Khemis L, Mekki N, Yaakoubi R, Ouni R, Benabdessalem C, et al. Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients. J Allergy Clin Immunol. 2019;143:1638\u201340. https:\/\/doi.org\/10.1016\/j.jaci.2018.12.987.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR42","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1084\/jem.20161435","volume":"214","author":"JJ Lyons","year":"2017","unstructured":"Lyons JJ, Liu Y, Ma CA, Yu X, O\u2019Connell MP, Lawrence MG, et al. Erbin deficiency links STAT3 and TGF-\u03b2 pathway defects with atopy in humans. J Exp Med. 2017;214:669\u201380. https:\/\/doi.org\/10.1084\/jem.20161435.","journal-title":"J Exp Med"},{"key":"9708_CR43","doi-asserted-by":"publisher","first-page":"70497","DOI":"10.1002\/hsr2.70497","volume":"8","author":"M Salehi","year":"2025","unstructured":"Salehi M, Neshati Z, Ahanchian H, Tafrishi R, Pasdar A, Safi M, et al. Hyper IgE syndromes: understanding, management, and future perspectives: a narrative review. Health Sci Rep. 2025;8:70497. https:\/\/doi.org\/10.1002\/hsr2.70497.","journal-title":"Health Sci Rep"},{"key":"9708_CR44","doi-asserted-by":"publisher","first-page":"454","DOI":"10.2174\/092986712803414286","volume":"19","author":"A Pezzini","year":"2012","unstructured":"Pezzini A, Del Zotto E, Giossi A, Volonghi I, Costa P, Padovani A. Transforming growth factor \u03b2 signaling perturbation in the Loeys-Dietz syndrome. Curr Med Chem. 2012;19:454\u201360. https:\/\/doi.org\/10.2174\/092986712803414286.","journal-title":"Curr Med Chem"},{"key":"9708_CR45","doi-asserted-by":"publisher","first-page":"eaat4941","DOI":"10.1126\/sciimmunol.aat4941","volume":"3","author":"S Frey-Jakobs","year":"2018","unstructured":"Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer MC, et al. ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol. 2018;3:eaat4941. https:\/\/doi.org\/10.1126\/sciimmunol.aat4941.","journal-title":"Sci Immunol."},{"key":"9708_CR46","doi-asserted-by":"publisher","first-page":"1129249","DOI":"10.3389\/fped.2023.1129249","volume":"11","author":"C Giancotta","year":"2023","unstructured":"Giancotta C, Colantoni N, Pacillo L, Santilli V, Amodio D, Manno EC, et al. Tailored treatments in inborn errors of immunity-associated with atopy (IEIs-A) with skin involvement. Front Pediatr. 2023;11:1129249. https:\/\/doi.org\/10.3389\/fped.2023.1129249.","journal-title":"Front Pediatr"},{"key":"9708_CR47","doi-asserted-by":"publisher","first-page":"878989","DOI":"10.3899\/fimmu.2022.878989","volume":"13","author":"E Pietzsch","year":"2022","unstructured":"Pietzsch E, Korholz J, Boschann F, Sergon M, Dorjbal B, Yee D, et al. Hyper-IgE and carcinoma in CADINS disease. Front Immunol. 2022;13:878989. https:\/\/doi.org\/10.3899\/fimmu.2022.878989.","journal-title":"Front Immunol"},{"issue":"1","key":"9708_CR48","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1111\/pde.15453","volume":"41","author":"G Gualdi","year":"2024","unstructured":"Gualdi G, Lougaris V, Amerio P, Petruzzellis A, Parodi A, Burlando M. Prurigo-like atopic dermatitis in a child with CARD11-associated severe combined immunodeficiency successfully treated with dupilumab. Pediatr Dermatol. 2024;41(1):158\u20139. https:\/\/doi.org\/10.1111\/pde.15453.","journal-title":"Pediatr Dermatol"},{"key":"9708_CR49","doi-asserted-by":"publisher","first-page":"888","DOI":"10.3899\/fimmu.2018.00888","volume":"9","author":"IS Junttila","year":"2018","unstructured":"Junttila IS. Tuning the cytokine responses: an update on interleukin (IL)-4 and IL-13 receptor complexes. Front Immunol. 2018;9:888. https:\/\/doi.org\/10.3899\/fimmu.2018.00888.","journal-title":"Front Immunol"},{"key":"9708_CR50","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1016\/j.jaci.2021.08.004","volume":"148","author":"Y Luo","year":"2021","unstructured":"Luo Y, Alexander M, Gadina M, O\u2019Shea JJ, Meylan F, Schwartz DM. Jak-stat signaling in human disease: from genetic syndromes to clinical inhibition. J Allergy Clin Immunol. 2021;148:911\u201325. https:\/\/doi.org\/10.1016\/j.jaci.2021.08.004.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR51","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.jaci.2023.01.023","volume":"152","author":"S Baris","year":"2023","unstructured":"Baris S, Benamar M, Chen Q, Catak MC, Martinez-Blanco M, Wang M, et al. Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6. J Allergy Clin Immunol. 2023;152:181\u201394. https:\/\/doi.org\/10.1016\/j.jaci.2023.01.023.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR52","doi-asserted-by":"publisher","first-page":"20221755","DOI":"10.1084\/jem.20221755","volume":"220","author":"M Sharma","year":"2023","unstructured":"Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, et al. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. J Exp Med. 2023;220:20221755. https:\/\/doi.org\/10.1084\/jem.20221755.","journal-title":"J Exp Med"},{"key":"9708_CR53","doi-asserted-by":"publisher","first-page":"150849","DOI":"10.1172\/jci.insight.150849","volume":"7","author":"CM Biggs","year":"2022","unstructured":"Biggs CM, Cordeiro-Santanach A, Prykhozhij SV, Deveau AP, Lin Y, Del Bel KL, et al. Human JAK1 gain of function causes dysregulated myelopoiesis and severe allergic inflammation. J Clin Immunol Insight. 2022;7:150849. https:\/\/doi.org\/10.1172\/jci.insight.150849.","journal-title":"J Clin Immunol Insight"},{"key":"9708_CR54","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1097\/ACI.0000000000000214","volume":"15","author":"K Bin Dhuban","year":"2015","unstructured":"Bin Dhuban K, Piccirillo CA. The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Curr Opin Allergy Clin Immunol. 2015;15:525\u201352. https:\/\/doi.org\/10.1097\/ACI.0000000000000214.","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"9708_CR55","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1007\/s10875-023-01456-0","volume":"43","author":"A Hou","year":"2023","unstructured":"Hou A, Wang Y, Pan Y. A case report of IPEX syndrome with neonatal diabetes mellitus and congenital hypothyroidism as the initial presentation, and a systematic review of neonatal IPEX. J Clin Immunol. 2023;43:979\u201388. https:\/\/doi.org\/10.1007\/s10875-023-01456-0.","journal-title":"J Clin Immunol"},{"key":"9708_CR56","doi-asserted-by":"publisher","first-page":"580","DOI":"10.24953\/turkjped.2019.04.015","volume":"61","author":"D Dogruel","year":"2019","unstructured":"Dogruel D, Gurbuz F, Turan I, Altintas DU, Ylmaz M, Yuksel B. Unusual and early onset of IPEX syndrome: a case report. Turk J Pediatr. 2019;61:580\u20134. https:\/\/doi.org\/10.24953\/turkjped.2019.04.015.","journal-title":"Turk J Pediatr."},{"key":"9708_CR57","doi-asserted-by":"publisher","first-page":"643094","DOI":"10.3389\/fped.2021.643094","volume":"9","author":"F Consonni","year":"2021","unstructured":"Consonni F, Ciulini Mannurita S, Gambineri E. Atypical presentations of IPEX: expect the unexpected. Front Pediatr. 2021;9:643094. https:\/\/doi.org\/10.3389\/fped.2021.643094.","journal-title":"Front Pediatr"},{"key":"9708_CR58","doi-asserted-by":"publisher","first-page":"102526","DOI":"10.1016\/j.autrev.2020.102526","volume":"19","author":"JH Park","year":"2020","unstructured":"Park JH, Lee KH, Jeon B, Ochs HD, Lee JS, Gee HY, et al. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: a systematic review. Autoimmun Rev. 2020;19:102526. https:\/\/doi.org\/10.1016\/j.autrev.2020.102526.","journal-title":"Autoimmun Rev"},{"key":"9708_CR59","doi-asserted-by":"publisher","first-page":"361","DOI":"10.4274\/jcrpe.galenos.2021.2021.0005","volume":"14","author":"G Karaguzel","year":"2022","unstructured":"Karaguzel G, Plat R, Abul MH, Cebi AH, Orhan F. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two siblings: same mutation but different clinical manifestations at onset. J Clin Res Pediatr Endocrinol. 2022;14:361\u20135. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2021.2021.0005.","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"9708_CR60","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1007\/s10875-024-01791-w","volume":"45","author":"HB Bozkurt","year":"2024","unstructured":"Bozkurt HB, Catak FB, Sahin A, Gungoren EY, Karaarslan BG, Yakici N, et al. Diverse clinical and immunological profiles in patients with IPEX syndrome: a multicenter analysis from Turkey. J Clin Immunol. 2024;45:9. https:\/\/doi.org\/10.1007\/s10875-024-01791-w.","journal-title":"J Clin Immunol"},{"key":"9708_CR61","doi-asserted-by":"publisher","first-page":"612760","DOI":"10.3389\/fped.2021.612760","volume":"9","author":"F Barzaghi","year":"2021","unstructured":"Barzaghi F, Passerini L. IPEX syndrome: improved knowledge of immune pathogenesis empowers diagnosis. Front Pediatr. 2021;9:612760. https:\/\/doi.org\/10.3389\/fped.2021.612760.","journal-title":"Front Pediatr"},{"key":"9708_CR62","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.jgg.2019.11.011","volume":"47","author":"Q Huang","year":"2020","unstructured":"Huang Q, Liu X, Zhang Y, Huang J, Li D, Li B. Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. J Genet Genomics. 2020;47:17\u201326. https:\/\/doi.org\/10.1016\/j.jgg.2019.11.011.","journal-title":"J Genet Genomics"},{"key":"9708_CR63","doi-asserted-by":"publisher","first-page":"323","DOI":"10.3390\/genes12030323","volume":"12","author":"I Ben-Skowronek","year":"2021","unstructured":"Ben-Skowronek I. IPEX syndrome: genetics and treatment options. Genes. 2021;12:323. https:\/\/doi.org\/10.3390\/genes12030323.","journal-title":"Genes"},{"key":"9708_CR64","doi-asserted-by":"publisher","first-page":"2411","DOI":"10.3389\/fimmu.2021.2411","volume":"9","author":"E Gambineri","year":"2018","unstructured":"Gambineri E, Mannurita SC, Hagin D, Vignoli M, Anover-Sombke S, DeBoer S, et al. Clinical, molecular, and heterogeneity of 173 patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Front Immunol. 2018;9:2411. https:\/\/doi.org\/10.3389\/fimmu.2021.2411.","journal-title":"Front Immunol"},{"key":"9708_CR65","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1007\/s004310100816","volume":"160","author":"K Aleman","year":"2001","unstructured":"Aleman K, Noordzij JG, de Groot R, van Dongen JJM, Hartwig NG. Reviewing Omenn syndrome. Eur J Pediatr. 2001;160:718\u201325. https:\/\/doi.org\/10.1007\/s004310100816.","journal-title":"Eur J Pediatr"},{"key":"9708_CR66","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1002\/eji.202048880","volume":"51","author":"M Bosticardo","year":"2021","unstructured":"Bosticardo M, Pala F, Notarangelo LD. Rag deficiencies: recent advances in disease pathogenesis and novel therapeutic approaches. Eur J Immunol. 2021;51:1028\u201338. https:\/\/doi.org\/10.1002\/eji.202048880.","journal-title":"Eur J Immunol"},{"key":"9708_CR67","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1007\/s10875-018-0537-4","volume":"38","author":"OM Delmonte","year":"2018","unstructured":"Delmonte OM, Schuetz C, Notarangelo LD. Rag deficiency: two genes, many diseases. J Clin Immunol. 2018;38:646\u201355. https:\/\/doi.org\/10.1007\/s10875-018-0537-4.","journal-title":"J Clin Immunol"},{"key":"9708_CR68","doi-asserted-by":"publisher","first-page":"102279","DOI":"10.1016\/j.coi.2022.102279","volume":"80","author":"MC Castiello","year":"2023","unstructured":"Castiello MC, Brandas C, Capo V, Villa A. Hyper IgE in hypomorphic recombination-activating gene defects. Curr Opin Immunol. 2023;80:102279. https:\/\/doi.org\/10.1016\/j.coi.2022.102279.","journal-title":"Curr Opin Immunol"},{"key":"9708_CR69","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1016\/j.jaci.2021.04.009","volume":"146","author":"R Rigoni","year":"2020","unstructured":"Rigoni R, Fontana E, Dobbs K, Marella V, Taverniti V, Maina V, et al. Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome. J Allergy Clin Immunol. 2020;146:1165\u201379. https:\/\/doi.org\/10.1016\/j.jaci.2021.04.009.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR70","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1016\/j.jaci.2022.10.022","volume":"151","author":"CC Dvorak","year":"2023","unstructured":"Dvorak CC, Haddad E, Heilmall J, Dunn E, Buckley RH, Kohn DB, et al. The diagnosis of severe combined immunodeficiency (SCID): the Primary Immunodeficiency Treatment Consortium (PIDTC) 2022 definitions. J Allergy Clin Immunol. 2023;151:539\u201346. https:\/\/doi.org\/10.1016\/j.jaci.2022.10.022.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR71","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1111\/pde.14401","volume":"38","author":"L Cutts","year":"2021","unstructured":"Cutts L, Bakshi A, Walsh M, Parslew R, Eustace K. Diagnosing Omenn syndrome. Pediatr Dermatol. 2021;38:541\u20133. https:\/\/doi.org\/10.1111\/pde.14401.","journal-title":"Pediatr Dermatol"},{"key":"9708_CR72","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1111\/pde.13023","volume":"34","author":"R Zafar","year":"2016","unstructured":"Zafar R, Ver Heul A, Beigelman A, Bednarski JJ, Bayliss SJ, Dehner LP, et al. Omenn syndrome presenting with striking erythroderma and extreme lymphocytosis in a newborn. Pediatr Dermatol. 2016;34:37\u20139. https:\/\/doi.org\/10.1111\/pde.13023.","journal-title":"Pediatr Dermatol"},{"key":"9708_CR73","doi-asserted-by":"publisher","first-page":"8317","DOI":"10.3390\/ijms24098317","volume":"24","author":"A Szczawi\u0144ska-Pop\u0142onyk","year":"2023","unstructured":"Szczawi\u0144ska-Pop\u0142onyk A, Schwartzmann E, Chmara Z, G\u0142ukowska A, Krysa T, Majchrzycki M, et al. Chromosome 22q11.2 deletion syndrome: a comprehensive review of molecular genetics in the context of multidisciplinary clinical approach. Int J Mol Sci. 2023;24:8317. https:\/\/doi.org\/10.3390\/ijms24098317.","journal-title":"Int J Mol Sci"},{"key":"9708_CR74","doi-asserted-by":"publisher","first-page":"2083","DOI":"10.3390\/genes13112083","volume":"13","author":"EC Gavril","year":"2022","unstructured":"Gavril EC, Popescu R, Nuca I, Ciobanu CG, Butnariu LI, Rusu C, et al. Different types of deletions created by low-copy repeats sequences location in 22q11.2 deletion syndrome: genotype-phenotype correlation. Genes. 2022;13:2083. https:\/\/doi.org\/10.3390\/genes13112083.","journal-title":"Genes."},{"key":"9708_CR75","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1007\/s10875-021-01059-7","volume":"41","author":"C Collins","year":"2021","unstructured":"Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY. Congenital athymia: genetic etiologies, clinical manifestations, diagnosis, and treatment. J Clin Immunol. 2021;41:881\u20135. https:\/\/doi.org\/10.1007\/s10875-021-01059-7.","journal-title":"J Clin Immunol"},{"key":"9708_CR76","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1111\/j.1442-200X.2012.03722.x","volume":"55","author":"QV Vu","year":"2013","unstructured":"Vu QV, Wada T, Toma T, Tajima H, Maeda M, Tanaka R, et al. Clinical and immunophenotypic features of atypical complete DiGeorge syndrome. Pediatr Int. 2013;55:2\u20136. https:\/\/doi.org\/10.1111\/j.1442-200X.2012.03722.x.","journal-title":"Pediatr Int"},{"key":"9708_CR77","doi-asserted-by":"publisher","first-page":"13030\/qt90k681p","DOI":"10.5070\/D32211033148","volume":"22","author":"L Seminario-Vidal","year":"2016","unstructured":"Seminario-Vidal L, Kole L, Knapp C, Fort P, Kankirawatana S, Atkinson P, et al. Dermatological clues to the diagnosis of atypical complete DiGeorge syndrome. Dermatol Online J. 2016;22:13030\/qt90k681pb.","journal-title":"Dermatol Online J"},{"key":"9708_CR78","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1111\/j.1600-0560.2007.00816.x","volume":"35","author":"MA Selim","year":"2008","unstructured":"Selim MA, Markert ML, Burchette JL, Herman CM, Turner JW. The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study. J Cutan Pathol. 2008;35:380\u20135. https:\/\/doi.org\/10.1111\/j.1600-0560.2007.00816.x.","journal-title":"J Cutan Pathol"},{"key":"9708_CR79","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1159\/000542215","volume":"241","author":"AEM Nouwen","year":"2025","unstructured":"Nouwen AEM, Ragamin A, Knol MJ, Ott H, Weibel L, Has C, et al. Developing a core outcome set for Netherton syndrome: an international multi-stakeholder e-Delphi consensus study. Dermatology. 2025;241:35\u201348. https:\/\/doi.org\/10.1159\/000542215.","journal-title":"Dermatology"},{"key":"9708_CR80","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1007\/s40291-016-0243-y","volume":"21","author":"CA Sarri","year":"2017","unstructured":"Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsati A, Stamatis C, et al. Netherton syndrome: a genotype-phenotype review. Mol Diagn Ther. 2017;21:137\u201352. https:\/\/doi.org\/10.1007\/s40291-016-0243-y.","journal-title":"Mol Diagn Ther"},{"key":"9708_CR81","doi-asserted-by":"publisher","first-page":"1475054","DOI":"10.3389\/fgene.2025.1475054","volume":"16","author":"M Xu","year":"2025","unstructured":"Xu M, Shi Y, Lin L, Wang L, Zhu X, Xiong J, et al. The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome. Front Genet. 2025;16:1475054. https:\/\/doi.org\/10.3389\/fgene.2025.1475054.","journal-title":"Front Genet"},{"key":"9708_CR82","doi-asserted-by":"publisher","DOI":"10.15537\/smj.2021.42.4.20200757","author":"S Al-Khenaizan","year":"2021","unstructured":"Al-Khenaizan S, Al-Mubarak L. Scalp roof tiles: a new diagnostic sign in neonates with Netherton syndrome. Saudi Med J. 2021. https:\/\/doi.org\/10.15537\/smj.2021.42.4.20200757.","journal-title":"Saudi Med J"},{"key":"9708_CR83","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1159\/000514699","volume":"7","author":"ME Herz-Ruelas","year":"2021","unstructured":"Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, Ocampo-Candiani J, Cab-Morales VA, Cubelis-Lopez DE. Netherton syndrome: case report and review of the literature. Skin Appendage Disord. 2021;7:346\u201350. https:\/\/doi.org\/10.1159\/000514699.","journal-title":"Skin Appendage Disord"},{"key":"9708_CR84","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1111\/jdv.18043","volume":"36","author":"E Cuperus","year":"2022","unstructured":"Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, et al. Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma. J Eur Acad Dermatol Venereol. 2022;36:973\u201386. https:\/\/doi.org\/10.1111\/jdv.18043.","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"9708_CR85","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1016\/j.jaci.2009.06.009","volume":"124","author":"ED Renner","year":"2009","unstructured":"Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, et al. Comel-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol. 2009;124:534\u201343. https:\/\/doi.org\/10.1016\/j.jaci.2009.06.009.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR86","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1001\/jamadermatol.2015.5827","volume":"152","author":"K Hannula-Jouppi","year":"2016","unstructured":"Hannula-Jouppi K, Laasanen S, Ilander M, Furio L, Tuomiranta M, Marttila R, et al. Intrafamily and interfamilial phenotype variation and immature immunity in patients with Netherton syndrome and Finnish SPINK5 founder mutation. JAMA Dermatol. 2016;152:435\u201342. https:\/\/doi.org\/10.1001\/jamadermatol.2015.5827.","journal-title":"JAMA Dermatol"},{"key":"9708_CR87","doi-asserted-by":"publisher","unstructured":"Kline SN, Orlando NA, Lee AJ, Wu M, Zhang J, YounC, et al. Staphylococcus aureus proteases trigger eosinophil-mediated skin inflammation. Proc Natl Acad Sci USA. 2024;121:2309243121. https:\/\/doi.org\/10.1073\/pnas.2309243121.","DOI":"10.1073\/pnas.2309243121"},{"key":"9708_CR88","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.jid.2023.11.004","volume":"144","author":"F Ahmad","year":"2024","unstructured":"Ahmad F, Alam MA, Ansari AW, Jochebeth A, Leo R, Al.-Abdulla MN, et al. Emerging role of the IL-36\/IL-36R axis in multiple inflammatory skin diseases. J Invest Dermatol. 2024;144:206\u201324. https:\/\/doi.org\/10.1016\/j.jid.2023.11.004.","journal-title":"J Invest Dermatol"},{"key":"9708_CR89","doi-asserted-by":"publisher","first-page":"101208","DOI":"10.1016\/j.omtm.2024.101208","volume":"32","author":"M Pille","year":"2024","unstructured":"Pille M, Avila JM, Park SH, Le CQ, Xue H, Haerynck F, et al. Gene editing-based target integration for correction of Wiskott-Aldrich syndrome. Mol Ther Methods Clin Dev. 2024;32:101208. https:\/\/doi.org\/10.1016\/j.omtm.2024.101208.","journal-title":"Mol Ther Methods Clin Dev"},{"key":"9708_CR90","doi-asserted-by":"publisher","first-page":"674572","DOI":"10.3389\/fcell.2021.674572","volume":"9","author":"J Ngoenkam","year":"2021","unstructured":"Ngoenkam J, Paensuwan P, Wipa P, Schamel WWA, Pongcharoen S. Wiskott-aldrich syndrome protein: roles in signal transduction in T cells. Front Cell Dev Biol. 2021;9:674572. https:\/\/doi.org\/10.3389\/fcell.2021.674572.","journal-title":"Front Cell Dev Biol"},{"key":"9708_CR91","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1080\/1744666X.2022.2074400","volume":"18","author":"C Cavannaugh","year":"2022","unstructured":"Cavannaugh C, Ochs HD, Buchbinder D. Diagnosis and clinical management of Wiskott-Aldrich syndrome: current and emerging techniques. Expert Rev Clin Immunol. 2022;18:609\u201323. https:\/\/doi.org\/10.1080\/1744666X.2022.2074400.","journal-title":"Expert Rev Clin Immunol"},{"key":"9708_CR92","doi-asserted-by":"publisher","first-page":"242642","DOI":"10.1136\/bcr-2021-242642","volume":"14","author":"A Kumar","year":"2021","unstructured":"Kumar A, Jain S, Kumar P, Goyal JP. Generalised eczema: a diagnostic clue to Wiskott-aldrich syndrome. BMJ Case Rep. 2021;14:242642. https:\/\/doi.org\/10.1136\/bcr-2021-242642.","journal-title":"BMJ Case Rep"},{"key":"9708_CR93","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1136\/archdischild-2011-300812","volume":"98","author":"JG Loyola Presa","year":"2013","unstructured":"Loyola Presa JG, de Carvalho VO, Morrisey LR, Bonfim CM, Taniguchi Abagge K, Vasselai A, et al. Cutaneous manifestations in patients with Wiskott-Aledrich syndrome submitted to hematopoietic stem cell transplantation. Arch Dis Child. 2013;98:304\u20137. https:\/\/doi.org\/10.1136\/archdischild-2011-300812.","journal-title":"Arch Dis Child"},{"key":"9708_CR94","doi-asserted-by":"publisher","first-page":"817427","DOI":"10.3389\/fimmu.2022.817427","volume":"13","author":"KE Herman","year":"2022","unstructured":"Herman KE, Yoshida T, Hughson A, Grier A, Gill SR, Beck LA, et al. IL-17-dependent dysregulated cutaneous immune homeostasis in the absence of the Wiskott Aldrich syndrome protein. Front Immunol. 2022;13:817427. https:\/\/doi.org\/10.3389\/fimmu.2022.817427.","journal-title":"Front Immunol"},{"key":"9708_CR95","doi-asserted-by":"publisher","first-page":"363","DOI":"10.2147\/TACG.S213920","volume":"14","author":"M Sudhakar","year":"2024","unstructured":"Sudhakar M, Rikhi R, Loganathan SK, Suri D, Singh S. Autoimmunity in Wiskott-Aldrich syndrome: updated perspective. Appl Clin Genet. 2024;14:363\u201388. https:\/\/doi.org\/10.2147\/TACG.S213920.","journal-title":"Appl Clin Genet"},{"key":"9708_CR96","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1097\/ACI.0000000000000943","volume":"23","author":"L Sams","year":"2023","unstructured":"Sams L, Wijetilleka S, Ponsford M, Gennery A, Jolles S. Atopic manifestations of inborn errors of immunity. Curr Opin Allergy Clin Immunol. 2023;23:478\u201390. https:\/\/doi.org\/10.1097\/ACI.0000000000000943.","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"9708_CR97","doi-asserted-by":"publisher","first-page":"102538","DOI":"10.1016\/j.coi.2025.102538","volume":"94","author":"Vaseghi-Shanjani","year":"2025","unstructured":"Vaseghi-Shanjani, Samra S, Yousefi P, Biggs CM, Turvey SE. Primary atopic disorders: inborn errors of immunity causing severe allergic disease. Curr Opin Immunol. 2025;94:102538. https:\/\/doi.org\/10.1016\/j.coi.2025.102538.","journal-title":"Curr Opin Immunol."},{"key":"9708_CR98","first-page":"13697","volume":"13","author":"A Acharjee","year":"2021","unstructured":"Acharjee A, Gribaleva E, Bano S, Gkoutos G. Multi-omics-based identification of atopic dermatitis target genes and their potential associations with metabolites and miRNAs. Am J Transl Res. 2021;13:13697\u2013709.","journal-title":"Am J Transl Res"},{"key":"9708_CR99","doi-asserted-by":"publisher","first-page":"2366","DOI":"10.1111\/all.16183","volume":"79","author":"S Nakajima","year":"2024","unstructured":"Nakajima S, Nakamizo S, Nomura T, Ishida Y, Sawada Y, Kabashima K. Integrating multi-omics approaches in deciphering atopic dermatitis pathogenesis and future therapeutic directions. Allergy. 2024;79:2366\u201379. https:\/\/doi.org\/10.1111\/all.16183.","journal-title":"Allergy"},{"key":"9708_CR100","doi-asserted-by":"publisher","first-page":"774902","DOI":"10.3389\/falgy.2021.774902","volume":"2","author":"M Jacob","year":"2021","unstructured":"Jacob M, Masood A, Shinwari Z, Jabbar MA, Al-Mousa H, Arnaout R, et al. Proteomics profiling to distinguish DOCK8 deficiency from atopic dermatitis. Front Allergy. 2021;2:774902. https:\/\/doi.org\/10.3389\/falgy.2021.774902.","journal-title":"Front Allergy"},{"key":"9708_CR101","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1002\/mco2.747","volume":"5","author":"P Jiang","year":"2020","unstructured":"Jiang P, Zhao S, Li X, Hu S, Chen S, Liang Y, et al. Dedicator of cytokinesis 8 (DOCK8) mutation impairs the differentiation of helper T cells by regulating the glycolytic pathway of CD4+ T cells. Med Comm. 2020;5:747. https:\/\/doi.org\/10.1002\/mco2.747.","journal-title":"Med Comm"},{"key":"9708_CR102","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.3390\/biomedicines11051303","volume":"11","author":"G Tsuji","year":"2023","unstructured":"Tsuji G, Yamamura K, Kido-Nakahara M, Ito T, Nakahara T. Novel therapeutic taergets for the treatment of atopic dermatitis. Biomedicines. 2023;11:1303. https:\/\/doi.org\/10.3390\/biomedicines11051303.","journal-title":"Biomedicines"},{"key":"9708_CR103","doi-asserted-by":"publisher","DOI":"10.1080\/1744666X.2025.2452247","author":"E D\u2019Auria","year":"2025","unstructured":"D\u2019Auria E, Indolfi C, Acunzo M, Dinardo G, Comberiati P, Peroni D, et al. Biologics and small molecules: the re-evolution in the treatment of atopic dermatitis in children and adolescents. Current state of the art. And future perspectives. Expert Rev Clin Immunol. 2025. https:\/\/doi.org\/10.1080\/1744666X.2025.2452247.","journal-title":"Expert Rev Clin Immunol"},{"key":"9708_CR104","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.dsi.2016.07.007","volume":"35","author":"PE Akbas","year":"2017","unstructured":"Akbas PE, Kocaturk E, Tuzun B, Koklu N, Yazici AC, Topal I. Omalizumab for the treatment of hyperimmunoglobulin E syndrome: a 12-year-old case. Dermatol Sinica. 2017;35:48\u20139. https:\/\/doi.org\/10.1016\/j.dsi.2016.07.007.","journal-title":"Dermatol Sinica"},{"key":"9708_CR105","doi-asserted-by":"publisher","first-page":"634","DOI":"10.3390\/biom13040634","volume":"13","author":"H Olbrich","year":"2023","unstructured":"Olbrich H, Sadik CD, Ludwig RJ, Thaci D, Boch K. Dupilumab in inflammatory skin diseases: a systematic review. Biomolecules. 2023;13:634. https:\/\/doi.org\/10.3390\/biom13040634.","journal-title":"Biomolecules"},{"key":"9708_CR106","doi-asserted-by":"publisher","first-page":"218","DOI":"10.37349\/ei.2024.00138","volume":"4","author":"N Makkoukdji","year":"2024","unstructured":"Makkoukdji N, Pundit V, Wyke M, Giraldo J, Satnarine T, Kleiner GI, et al. Targeted treatments for immune dysregulation in inborn errors of immunity. Explor Immunol. 2024;4:218\u201337. https:\/\/doi.org\/10.37349\/ei.2024.00138.","journal-title":"Explor Immunol."},{"key":"9708_CR107","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1111\/jdv.16884","volume":"35","author":"K Sussmuth","year":"2021","unstructured":"Sussmuth K, Traupe H, Loser K, Stander S, Kessel C, Wittkowski H, et al. Response to dupilumab in two children with Netherton syndrome: improvement of pruritus and scaling. J Eur Acad Dermatol Venereol. 2021;35:152\u20135. https:\/\/doi.org\/10.1111\/jdv.16884.","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"9708_CR108","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1817\/jaci.0682","volume":"31","author":"FJ Munoz-Bellido","year":"2022","unstructured":"Munoz-Bellido FJ, Moreno E, Davila I. Dupilumab: a review of present indications and off-label uses. J Investig Allergol Clin Immunol. 2022;31:97\u2013115. https:\/\/doi.org\/10.1817\/jaci.0682.","journal-title":"J Investig Allergol Clin Immunol"},{"key":"9708_CR109","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.chest.2020.11.042","volume":"159","author":"A Adatia","year":"2021","unstructured":"Adatia A, Allen CJ, Wald J, Richards CD, Wasserman S, Nair P. Benralizumab for prednisone-dependent eosinophilic asthma associated with novel STAT3 loss of function mutation. Chest. 2021;159:181\u20134. https:\/\/doi.org\/10.1016\/j.chest.2020.11.042.","journal-title":"Chest"},{"key":"9708_CR110","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1111\/bjd.18892","volume":"183","author":"S Volc","year":"2020","unstructured":"Volc S, Maier L, Gritsch A, Aichelburg MC, Volc-Platzer B. Successful treatment of Netherton syndrome with ustekinumab in 15-year-old girl. Br J Dermatol. 2020;183:165\u20137. https:\/\/doi.org\/10.1111\/bjd.18892.","journal-title":"Br J Dermatol"},{"key":"9708_CR111","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.det.2024.02.003","volume":"42","author":"H Do","year":"2024","unstructured":"Do H, Babbush Graber K, Chernoff KA, Melnick LE. Evolving landscape of biologic therapy for pediatric psoriasis. Dermatol Clin. 2024;42:377\u201386. https:\/\/doi.org\/10.1016\/j.det.2024.02.003.","journal-title":"Dermatol Clin"},{"key":"9708_CR112","doi-asserted-by":"publisher","first-page":"892","DOI":"10.3390\/children11080892","volume":"11","author":"RC Yi","year":"2024","unstructured":"Yi RC, Moran SK, Gantz HY, Strowd LC, Feldman SR. Biologics and small molecule targeted therapies for pediatric alopecia areata, psoriasis, atopic dermatitis, and hidradenitis suppurativa in the US: a narrative review. Children. 2024;11:892. https:\/\/doi.org\/10.3390\/children11080892.","journal-title":"Children"},{"key":"9708_CR113","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1007\/s40272-023-00594-7","volume":"25","author":"NK Bagri","year":"2023","unstructured":"Bagri NK, Chew C, Ramanan AV. Scope of JAK inhibitors in children: recent evidence and way forward. Pediatr Drug. 2023;25:635\u201347. https:\/\/doi.org\/10.1007\/s40272-023-00594-7.","journal-title":"Pediatr Drug"},{"key":"9708_CR114","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1016\/j.jaip.2023.03.011","volume":"11","author":"S Butala","year":"2023","unstructured":"Butala S, Castelo-Soccio L, Seshadri R, Simpson EL, O\u2019Shea JJ, Bieber T, et al. Biologic versus small molecule therapy for treating moderate to severe atopic dermatitis: clinical considerations. J Allergy Clin Immunol Pract. 2023;11:1361\u201373. https:\/\/doi.org\/10.1016\/j.jaip.2023.03.011.","journal-title":"J Allergy Clin Immunol Pract"},{"key":"9708_CR115","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1136\/ard-2023-223850","volume":"83","author":"M Bonelli","year":"2024","unstructured":"Bonelli M, Kerschbaumer A, Kastrati K, Ghoreschi K, Gadina M, Heinz LX, et al. Selectivity, efficacy, and safety of JAKinibs: new evidence for a still evolving story. Ann Rheum Dis. 2024;83:139\u201360. https:\/\/doi.org\/10.1136\/ard-2023-223850.","journal-title":"Ann Rheum Dis"},{"key":"9708_CR116","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1016\/j.jaci.2018.07.020","volume":"142","author":"LR Forbes","year":"2018","unstructured":"Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, et al. Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. J Allergy Clin Immunol. 2018;142:1665\u20139. https:\/\/doi.org\/10.1016\/j.jaci.2018.07.020.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR117","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1007\/s12016-021-08916-8","volume":"63","author":"E Perez","year":"2022","unstructured":"Perez E. Future therapy for inborn errors of immunity. Clin Rev Allergy Immunol. 2022;63:75\u201389. https:\/\/doi.org\/10.1007\/s12016-021-08916-8.","journal-title":"Clin Rev Allergy Immunol"},{"key":"9708_CR118","doi-asserted-by":"publisher","first-page":"108779","DOI":"10.1016\/j.clim.2021.108779","volume":"229","author":"AL Lanz","year":"2021","unstructured":"Lanz AL, Riester M, Peters P, Schwerd T, Lurz E, Hajji MS, et al. Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency. Clin Immunol. 2021;229:108779. https:\/\/doi.org\/10.1016\/j.clim.2021.108779.","journal-title":"Clin Immunol"},{"key":"9708_CR119","doi-asserted-by":"publisher","first-page":"1634","DOI":"10.1016\/j.jaci.2023.08.004","volume":"152","author":"N Taghizade","year":"2023","unstructured":"Taghizade N, Babayeva R, Kara A, Karakus IS, Catak MC, Bulutoglu A, et al. Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA insufficiency. J Allergy Clin Immunol. 2023;152:1634\u201345. https:\/\/doi.org\/10.1016\/j.jaci.2023.08.004.","journal-title":"J Allergy Clin Immunol"},{"key":"9708_CR120","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1084\/jem.20172306","volume":"215","author":"JJ Lyons","year":"2018","unstructured":"Lyons JJ, Milner JD. Primary atopic disorders. J Exp Med. 2018;215:1009\u201322. https:\/\/doi.org\/10.1084\/jem.20172306.","journal-title":"J Exp Med"},{"key":"9708_CR121","doi-asserted-by":"publisher","first-page":"1737","DOI":"10.1016\/j.jaip.2022.04.001","volume":"10","author":"M Vaseghi-Shanjani","year":"2022","unstructured":"Vaseghi-Shanjani M, Snow AL, Margolis DJ, Latrous M, Milner JD, Turvey SE, et al. Atopy as immune dysregulation: offender genes and targets. J Allergy Clin Immunol Pract. 2022;10:1737\u201356. https:\/\/doi.org\/10.1016\/j.jaip.2022.04.001.","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\/s12026-025-09708-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12026-025-09708-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12026-025-09708-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T07:29:14Z","timestamp":1770190154000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12026-025-09708-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,20]]},"references-count":121,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["9708"],"URL":"https:\/\/doi.org\/10.1007\/s12026-025-09708-4","relation":{},"ISSN":["0257-277X","1559-0755"],"issn-type":[{"value":"0257-277X","type":"print"},{"value":"1559-0755","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,20]]},"assertion":[{"value":"21 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2025","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":"Competing interest"}},{"value":"The manuscript is a part of the scientific National Center of Science grant project \u201eGenetic and epigenetic background of antibody production defects in children: in search of a pathophysiological model of common variable immunodeficiency\u201d (ID 571776, No 2022\/47\/B\/NZ6-0048). The project is led by Aleksandra Szczawi\u0144ska-Pop\u0142onyk, without honorarium.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Scientific support"}}],"article-number":"147"}}