{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T15:06:28Z","timestamp":1785855988500,"version":"3.56.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,29]],"date-time":"2024-11-29T00:00:00Z","timestamp":1732838400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,11,29]],"date-time":"2024-11-29T00:00:00Z","timestamp":1732838400000},"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":["Front. Med."],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1007\/s11684-024-1106-2","type":"journal-article","created":{"date-parts":[[2024,11,28]],"date-time":"2024-11-28T23:37:10Z","timestamp":1732837030000},"page":"174-180","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Recurrent eosinophilia with a novel homozygous ARPC1B mutation"],"prefix":"10.1007","volume":"19","author":[{"given":"Gamze","family":"Sonmez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baris","family":"Ulum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ates Kutay","family":"Tenekeci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canan","family":"Caka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"\u015eahin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alp","family":"Kazanc\u0131o\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Begum","family":"Ozbek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130smail","family":"Yaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saliha","family":"Esenbo\u011fa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"\u00c7a\u011fda\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,29]]},"reference":[{"key":"1106_CR1","doi-asserted-by":"publisher","first-page":"604206","DOI":"10.3389\/fimmu.2020.604206","volume":"11","author":"R Papa","year":"2021","unstructured":"Papa R, Penco F, Volpi S, Gattorno M. Actin remodeling defects leading to autoinflammation and immune dysregulation. Front Immunol 2021; 11: 604206","journal-title":"Front Immunol"},{"issue":"12","key":"1106_CR2","doi-asserted-by":"publisher","first-page":"5600","DOI":"10.1172\/JCI129388","volume":"129","author":"LO Randzavola","year":"2019","unstructured":"Randzavola LO, Strege K, Juzans M, Asano Y, Stinchcombe JC, Gawden-Bone CM, Seaman MN, Kuijpers TW, Griffiths GM. Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity. J Clin Invest 2019; 129(12): 5600\u20135614","journal-title":"J Clin Invest"},{"issue":"23","key":"1106_CR3","doi-asserted-by":"publisher","first-page":"e149376","DOI":"10.1172\/jci.insight.149376","volume":"6","author":"G Leung","year":"2021","unstructured":"Leung G, Zhou Y, Ostrowski P, Mylvaganam S, Boroumand P, Mulder DJ, Guo C, Muise AM, Freeman SA. ARPC1B binds WASP to control actin polymerization and curtail tonic signaling in B cells. JCI Insight 2021; 6(23): e149376","journal-title":"JCI Insight"},{"issue":"1","key":"1106_CR4","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.jaci.2016.09.061","volume":"140","author":"TW Kuijpers","year":"2017","unstructured":"Kuijpers TW, Tool ATJ, van der Bijl I, de Boer M, van Houdt M, de Cuyper IM, Roos D, van Alphen F, van Leeuwen K, Cambridge EL, Arends MJ, Dougan G, Clare S, Ramirez-Solis R, Pals ST, Adams DJ, Meijer AB, van den Berg TK. Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol 2017; 140(1): 273\u2013277.e10","journal-title":"J Allergy Clin Immunol"},{"key":"1106_CR5","first-page":"101750","volume":"40","author":"T Tkemaladze","year":"2022","unstructured":"Tkemaladze T, Kvaratskhelia E, Ghughunishvili M, Lentze MJ, Abzianidze E, Skrahina V, Rolfs A. Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: review of literature and case report. Respir Med Case Rep 2022; 40: 101750","journal-title":"Respir Med Case Rep"},{"issue":"10","key":"1106_CR6","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1038\/ng.2745","volume":"45","author":"PR Sosnay","year":"2013","unstructured":"Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013; 45(10): 1160\u20131167","journal-title":"Nat Genet"},{"issue":"5","key":"1106_CR7","doi-asserted-by":"publisher","first-page":"e0155624","DOI":"10.1371\/journal.pone.0155624","volume":"11","author":"DB Salinas","year":"2016","unstructured":"Salinas DB, Sosnay PR, Azen C, Young S, Raraigh KS, Keens TG, Kharrazi M. Benign and deleterious cystic fibrosis transmembrane conductance regulator mutations identified by sequencing in positive cystic fibrosis newborn screen children from California. PLoS One 2016; 11(5): e0155624","journal-title":"PLoS One"},{"key":"1106_CR8","doi-asserted-by":"publisher","first-page":"634313","DOI":"10.3389\/fimmu.2021.634313","volume":"12","author":"I Papadatou","year":"2021","unstructured":"Papadatou I, Marinakis N, Botsa E, Tzanoudaki M, Kanariou M, Orfanou I, Kanaka-Gantenbein C, Traeger-Synodinos J, Spoulou V. Case report: a novel synonymous ARPC1B gene mutation causes a syndrome of combined immunodeficiency, asthma, and allergy with significant intrafamilial clinical heterogeneity. Front Immunol 2021; 12: 634313","journal-title":"Front Immunol"},{"issue":"7","key":"1106_CR9","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1007\/s10875-022-01305-6","volume":"42","author":"S Giardino","year":"2022","unstructured":"Giardino S, Volpi S, Lucioni F, Caorsi R, Schneiderman J, Lang A, Khojah A, Kuijpers T, Papadatou I, Paisiou A, Alonso L, Schulz A, Marcus N, Gattorno M, Faraci M. Hematopoietic stem cell transplantation in ARPC1B deficiency. J Clin Immunol 2022; 42(7): 1535\u20131544","journal-title":"J Clin Immunol"},{"issue":"D1","key":"1106_CR10","doi-asserted-by":"publisher","first-page":"D1143","DOI":"10.1093\/nar\/gkad989","volume":"52","author":"M Schubach","year":"2024","unstructured":"Schubach M, Maass T, Nazaretyan L, R\u00f6ner S, Kircher M. CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions. Nucleic Acids Res 2024; 52(D1): D1143\u2013D1154","journal-title":"Nucleic Acids Res"},{"issue":"3","key":"1106_CR11","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","volume":"176","author":"K Jaganathan","year":"2019","unstructured":"Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, Darbandi SF, Knowles D, Li YI, Kosmicki JA, Arbelaez J, Cui W, Schwartz GB, Chow ED, Kanterakis E, Gao H, Kia A, Batzoglou S, Sanders SJ, Farh KK. Predicting splicing from primary sequence with deep learning. Cell 2019; 176(3): 535\u2013548.e24","journal-title":"Cell"},{"key":"1106_CR12","doi-asserted-by":"publisher","first-page":"635322","DOI":"10.3389\/fped.2021.635322","volume":"9","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, Muzquiz-Zerme\u00f1o D, Gonz\u00e1lez-Serrano ME, Lugo Reyes SO. Case Report: DOCK8 deficiency without hyper-IgE in a child with a large deletion. Front Pediatr 2021; 9: 635322","journal-title":"Front Pediatr"},{"key":"1106_CR13","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: insights into pathophysiology, clinical features and management. Clin Immunol 2017; 181: 75\u201382","journal-title":"Clin Immunol"},{"issue":"2","key":"1106_CR14","doi-asserted-by":"publisher","first-page":"e20220275","DOI":"10.1084\/jem.20220275","volume":"220","author":"R L\u00e9vy","year":"2023","unstructured":"L\u00e9vy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, K\u00fchl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, B\u00e9ziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med 2023; 220(2): e20220275","journal-title":"J Exp Med"},{"issue":"7","key":"1106_CR15","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.1007\/s10875-022-01305-6","volume":"42","author":"S Giardino","year":"2022","unstructured":"Giardino S, Volpi S, Lucioni F, Caorsi R, Schneiderman J, Lang A, Khojah A, Kuijpers T, Papadatou I, Paisiou A, Alonso L, Schulz A, Marcus N, Gattorno M, Faraci M. Hematopoietic stem cell transplantation in ARPC1B deficiency. J Clin Immunol 2022; 42(7): 1535\u20131544","journal-title":"J Clin Immunol"},{"issue":"4","key":"1106_CR16","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1016\/j.jaip.2022.12.045","volume":"11","author":"E V\u00e1squez-Echeverri","year":"2023","unstructured":"V\u00e1squez-Echeverri E, Yamazaki-Nakashimada MA, Venegas Montoya E, Scheffler Mendoza SC, Castano-Jaramillo LM, Medina-Torres EA, Gonz\u00e1lez-Serrano ME, Espinosa-Navarro M, Bustamante Ogando JC, Gonz\u00e1lez-Villarreal MG, Ortega Cisneros M, Valencia Mayoral PF, Consuelo Sanchez A, Varela-Fascinetto G, Ram\u00edrez-Uribe RMN, Salazar G\u00e1lvez Y, Bonifaz Alonzo LC, Fuentes-Panan\u00e1 EM, Gomez Hern\u00e1ndez N, Rojas Maruri CM, Casanova JL, Espinosa-Padilla SE, Staines Boone AT, L\u00f3pez-Vel\u00e1zquez G, Boisson B, Lugo Reyes SO. Is your kid actin out? A series of six patients with inherited actin-related protein 2\/3 complex subunit 1B deficiency and review of the literature. J Allergy Clin Immunol Pract 2023; 11(4): 1261\u20131280.e8","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"10","key":"1106_CR17","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1164\/rccm.201512-2454ED","volume":"193","author":"Z Fan","year":"2016","unstructured":"Fan Z, Ley K. Leukocyte adhesion deficiency IV. Monocyte integrin activation deficiency in cystic fibrosis. Am J Respir Crit Care Med 2016; 193(10): 1075\u20131077","journal-title":"Am J Respir Crit Care Med"},{"issue":"1","key":"1106_CR18","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/cei.13645","volume":"206","author":"I Yaz","year":"2021","unstructured":"Yaz I, Ozbek B, Bildik HN, Tan C, Oskay Halacli S, Soyak Aytekin E, Esenboga S, Cekic S, Kilic SS, Keskin O, van Leeuwen K, Roos D, Cagdas D, Tezcan I. Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: a multicenter study in Turkey. Clin Exp Immunol 2021; 206(1): 47\u201355","journal-title":"Clin Exp Immunol"},{"issue":"6","key":"1106_CR19","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1111\/j.1399-0004.2005.00437.x","volume":"67","author":"N Derichs","year":"2005","unstructured":"Derichs N, Schuster A, Grund I, Ernsting A, Stolpe C, K\u00f6rtge-Jung S, Gallati S, Stuhrmann M, Kozlowski P, Ballmann M. Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis. Clin Genet 2005; 67(6): 529\u2013531","journal-title":"Clin Genet"},{"issue":"4","key":"1106_CR20","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1136\/ard.2010.142760","volume":"70","author":"X Pu\u00e9chal","year":"2011","unstructured":"Pu\u00e9chal X, Bienvenu T, G\u00e9nin E, Berthelot JM, Sibilia J, Gaudin P, Marcelli C, Lasbleiz S, Michou L, Corn\u00e9lis F, Kahan A, Dusser DJ. Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis. Ann Rheum Dis 2011; 70(4): 653\u2013659","journal-title":"Ann Rheum Dis"},{"issue":"2","key":"1106_CR21","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1007\/s004390050683","volume":"102","author":"T Onay","year":"1998","unstructured":"Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet 1998; 102(2): 224\u2013230","journal-title":"Hum Genet"},{"issue":"1","key":"1106_CR22","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1089\/gte.2007.0046","volume":"12","author":"P Lakeman","year":"2008","unstructured":"Lakeman P, Gille JJ, Dankert-Roelse JE, Heijerman HG, Munck A, Iron A, Grasemann H, Schuster A, Cornel MC, Ten Kate LP. CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening. Genet Test 2008; 12(1): 25\u201335","journal-title":"Genet Test"},{"issue":"2","key":"1106_CR23","doi-asserted-by":"publisher","first-page":"AB69","DOI":"10.1016\/j.jaci.2022.12.219","volume":"151","author":"L Borish","year":"2023","unstructured":"Borish L, Noonan E, Zhang L, Patrie J, Albon D. Eosinophilic cystic fibrosis is associated with increased health care utilization. J Allergy Clin Immunol 2023; 151(2): AB69","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"1106_CR24","doi-asserted-by":"publisher","first-page":"68","DOI":"10.24953\/turkjped.2017.01.011","volume":"59","author":"AE Ba\u015faran","year":"2017","unstructured":"Ba\u015faran AE, Karata\u015f-Torun N, Maslak IC, Bing\u00f6l A, Alper \u00d6M. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59(1): 68\u201370","journal-title":"Turk J Pediatr"}],"container-title":["Frontiers of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11684-024-1106-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11684-024-1106-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11684-024-1106-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T02:52:57Z","timestamp":1740538377000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11684-024-1106-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,29]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["1106"],"URL":"https:\/\/doi.org\/10.1007\/s11684-024-1106-2","relation":{},"ISSN":["2095-0217","2095-0225"],"issn-type":[{"value":"2095-0217","type":"print"},{"value":"2095-0225","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,29]]},"assertion":[{"value":"28 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Conflicts of interest Gamze Sonmez, Baris Ulum, Ates Kutay Tenekeci, Canan Caka, Ali \u015eahin, Alp Kazanc\u0131o\u011flu, Begum Ozbek, \u0130smail Yaz, Saliha Esenbo\u011fa, and Deniz \u00c7a\u011fda\u015f declare no potential conflicts of interest with respect to the research, authorship, and\/or publication of this article.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethics guidelines"}},{"value":"Informed consent was obtained from the family for publication of this report. Other ethical board approval is not applicable in this case report.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethics guidelines"}}]}}