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For: 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, Kütükçüler N, Camcioğlu Y, Somer A, Aydiner EK, 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 T. 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;124:1289-302.e4. [PMID: 20004785 PMCID: PMC2818862 DOI: 10.1016/j.jaci.2009.10.038] [Citation(s) in RCA: 372] [Impact Index Per Article: 23.3] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2009] [Revised: 10/22/2009] [Accepted: 10/26/2009] [Indexed: 01/01/2023]
Number Cited by Other Article(s)
1
Sutanto H, Adytia GJ, Fetarayani D. Hyper IgE Syndrome: Bridging the Gap Between Immunodeficiency, Atopy, and Allergic Diseases. Curr Allergy Asthma Rep 2025;25:17. [PMID: 40082265 DOI: 10.1007/s11882-025-01196-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/19/2025] [Indexed: 03/16/2025]
2
Li SY, Cao W, Ge Y, Lvy W, Liu YP, Qin L. Whole-exome sequencing assists in the diagnosis of hyperimmunoglobulin E syndrome: Insights into dual genetic abnormalities. Heliyon 2025;11:e42408. [PMID: 40028518 PMCID: PMC11870154 DOI: 10.1016/j.heliyon.2025.e42408] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2024] [Revised: 01/06/2025] [Accepted: 01/30/2025] [Indexed: 03/05/2025]  Open
3
AlYafie R, Velayutham D, van Panhuys N, Jithesh PV. The genetics of hyper IgE syndromes. Front Immunol 2025;16:1516068. [PMID: 40040707 PMCID: PMC11876172 DOI: 10.3389/fimmu.2025.1516068] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/23/2024] [Accepted: 01/29/2025] [Indexed: 03/06/2025]  Open
4
Trombello S, Jarisch A, Willasch A, Rettinger E, Fekadu-Siebald J, Holzinger D, Adelmann R, Bader P, Bakhtiar S. Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency. Front Immunol 2025;15:1507494. [PMID: 39936153 PMCID: PMC11810938 DOI: 10.3389/fimmu.2024.1507494] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/07/2024] [Accepted: 12/02/2024] [Indexed: 02/13/2025]  Open
5
Freeman AF, Gonzalez CE, Yates B, Cole K, Little L, Flannelly E, Steinberg SM, Mo G, Piette N, Hughes TE, Cuellar-Rodriguez J, Gea-Banacloche J, Heller T, Hammoud DA, Holland SM, Kong HH, Young FD, Jing H, Kayaoglu B, Su HC, Pai SY, Hickstein DD, Shah NN. Hematopoietic cell transplantation for DOCK8 deficiency: Results from a prospective clinical trial. J Allergy Clin Immunol 2025;155:176-187. [PMID: 39233015 DOI: 10.1016/j.jaci.2024.08.021] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/22/2024] [Revised: 08/02/2024] [Accepted: 08/07/2024] [Indexed: 09/06/2024]
6
Singh N, Ranganath P, Jayaram A, Jhawar P, Kotecha U, Janardhanan J, Kumar H, Sudheer KA, Ali SMN, Arigela K, Ginigeri C, Bhattad S. Clinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India. Immunol Res 2024;73:8. [PMID: 39666233 DOI: 10.1007/s12026-024-09571-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/02/2024] [Accepted: 10/21/2024] [Indexed: 12/13/2024]
7
Oktelik FB, Wang M, Keles S, Eke Gungor H, Cansever M, Can S, Karakoc-Aydiner E, Baris S, Schmitz-Abe K, Benamar M, Chatila TA. DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome. Clin Immunol 2024;268:110384. [PMID: 39437980 PMCID: PMC11531991 DOI: 10.1016/j.clim.2024.110384] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/10/2024] [Accepted: 10/18/2024] [Indexed: 10/25/2024]
8
Sun H, Knight JM, Li YD, Ashoori F, Citardi MJ, Yao WC, Corry DB, Luong AU. Allergic fungal rhinosinusitis linked to other hyper-IgE syndromes through defective TH17 responses. J Allergy Clin Immunol 2024;154:1169-1179. [PMID: 39032670 DOI: 10.1016/j.jaci.2024.06.022] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/23/2023] [Revised: 05/15/2024] [Accepted: 06/07/2024] [Indexed: 07/23/2024]
9
Du H, Lun MY, Gagarina L, Mehaffey MG, Hwang JP, Jhangiani SN, Bhamidipati SV, Muzny DM, Poli MC, Ochoa S, Chinn IK, Linstrand A, Posey JE, Gibbs RA, Lupski JR, Carvalho CMB. VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.10.27.620363. [PMID: 39553991 PMCID: PMC11565771 DOI: 10.1101/2024.10.27.620363] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Indexed: 11/19/2024]
10
Fekrvand S, Abolhassani H, Esfahani ZH, Fard NNG, Amiri M, Salehi H, Almasi-Hashiani A, Saeedi-Boroujeni A, Fathi N, Mohtashami M, Razavi A, Heidari A, Azizi G, Khanmohammadi S, Ahangarzadeh M, Saleki K, Hassanpour G, Rezaei N, Yazdani R. Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis. J Clin Immunol 2024;45:34. [PMID: 39466473 DOI: 10.1007/s10875-024-01810-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2024] [Accepted: 09/16/2024] [Indexed: 10/30/2024]
11
Galletta F, Gambadauro A, Foti Randazzese S, Passanisi S, Sinatra V, Caminiti L, Zirilli G, Manti S. Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders. Life (Basel) 2024;14:1329. [PMID: 39459629 PMCID: PMC11509725 DOI: 10.3390/life14101329] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/27/2024] [Revised: 10/06/2024] [Accepted: 10/16/2024] [Indexed: 10/28/2024]  Open
12
Yazdanpanah N, Rezaei N. The multidisciplinary approach to diagnosing inborn errors of immunity: a comprehensive review of discipline-based manifestations. Expert Rev Clin Immunol 2024;20:1237-1259. [PMID: 38907993 DOI: 10.1080/1744666x.2024.2372335] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2023] [Accepted: 06/21/2024] [Indexed: 06/24/2024]
13
Jiang P, Zhao S, Li X, Hu S, Chen S, Liang Y, Zhang L, Lu L, Fang G, Yang L, Huang Y, Miller H, Guan F, Lei J, Liu C. Dedicator of cytokinesis 8 (DOCK8) mutation impairs the differentiation of helper T cells by regulating the glycolytic pathway of CD4+ T cells. MedComm (Beijing) 2024;5:e747. [PMID: 39329018 PMCID: PMC11424684 DOI: 10.1002/mco2.747] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2024] [Revised: 08/28/2024] [Accepted: 08/29/2024] [Indexed: 09/28/2024]  Open
14
Fekrvand S, Abolhassani H, Rezaei N. An overview of early genetic predictors of IgA deficiency. Expert Rev Mol Diagn 2024;24:715-727. [PMID: 39087770 DOI: 10.1080/14737159.2024.2385521] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/09/2024] [Accepted: 07/24/2024] [Indexed: 08/02/2024]
15
Christodoulou A, Tsai JY, Suwankitwat N, Anderson A, Iritani BM. Hem1 inborn errors of immunity: waving goodbye to coordinated immunity in mice and humans. Front Immunol 2024;15:1402139. [PMID: 39026677 PMCID: PMC11254771 DOI: 10.3389/fimmu.2024.1402139] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/16/2024] [Accepted: 06/19/2024] [Indexed: 07/20/2024]  Open
16
Fusaro M, Dupré L. Mechanisms underlying skin inflammation of DOCK8 deficiency. J Allergy Clin Immunol 2024;154:88-90. [PMID: 38759801 DOI: 10.1016/j.jaci.2024.04.026] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2024] [Revised: 04/18/2024] [Accepted: 04/24/2024] [Indexed: 05/19/2024]
17
Wilkie H, Das M, Pelovitz T, Bainter W, Woods B, Alasharee M, Sobh A, Baris S, Eltan SB, Al-Herz W, Barbouche MR, Ben-Mustapha I, Ben-Ali M, Sallam MTH, Awad A, Lotfy S, El Marsafy A, Ezzelarab M, Farrar M, Schmidt BAR, NandyMazumdar M, Guttman-Yassky E, Sheets A, Vidic KM, Murphy G, Schlievert PM, Chou J, Leyva-Castillo JM, Janssen E, Timilshina M, Geha RS. Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency. J Allergy Clin Immunol 2024;154:143-156. [PMID: 38185418 DOI: 10.1016/j.jaci.2023.12.020] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/08/2023] [Revised: 12/19/2023] [Accepted: 12/27/2023] [Indexed: 01/09/2024]
18
Zhang B, Chen S, Yin X, McBride CD, Gertie JA, Yurieva M, Bielecka AA, Hoffmann B, Travis Hinson J, Grassmann J, Xu L, Siniscalco ER, Soldatenko A, Hoyt L, Joseph J, Norton EB, Uthaman G, Palm NW, Liu E, Eisenbarth SC, Williams A. Metabolic fitness of IgA+ plasma cells in the gut requires DOCK8. Mucosal Immunol 2024;17:431-449. [PMID: 38159726 PMCID: PMC11571232 DOI: 10.1016/j.mucimm.2023.12.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/10/2023] [Revised: 11/16/2023] [Accepted: 12/01/2023] [Indexed: 01/03/2024]
19
Guo M, Ma Y, Cai K, Liu X, Liu W, Wang F, Qu N, Liu S. A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families. Immunogenetics 2024;76:165-173. [PMID: 38587548 DOI: 10.1007/s00251-024-01340-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/20/2024] [Accepted: 03/31/2024] [Indexed: 04/09/2024]
20
Kurz H, Lehmberg K, Farmand S. Inborn errors of immunity with susceptibility to S. aureus infections. Front Pediatr 2024;12:1389650. [PMID: 38720948 PMCID: PMC11078099 DOI: 10.3389/fped.2024.1389650] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/21/2024] [Accepted: 03/25/2024] [Indexed: 05/12/2024]  Open
21
Netravali IA, Sockler PG, Heimall J, Treat JR. Rapid resolution of diffuse warts following initiation of dupilumab for severe atopic dermatitis. Pediatr Dermatol 2024;41:275-278. [PMID: 37680146 DOI: 10.1111/pde.15414] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/09/2023] [Accepted: 07/30/2023] [Indexed: 09/09/2023]
22
Tangye SG, Mackie J, Pathmanandavel K, Ma CS. The trajectory of human B-cell function, immune deficiency, and allergy revealed by inborn errors of immunity. Immunol Rev 2024;322:212-232. [PMID: 37983844 DOI: 10.1111/imr.13288] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2023]
23
Kumar Jindal A, Sil A, Aggarwal R, Tyagi R, Mondal S, Singh A, Barman P, Chawla S, Loganathan SK, Gupta K, Vinay K, Mahajan R, Saikia B, Kaur G, Sharma R, Saka R, Bhatia A, Sankhyan N, Pandiarajan V, Pilania R, Dhaliwal M, Sharma S, Vyas S, Suri D, Rawat A, Singh S. Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India. Clin Exp Dermatol 2024;49:226-234. [PMID: 37815217 DOI: 10.1093/ced/llad345] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/15/2023] [Revised: 09/23/2023] [Accepted: 10/03/2023] [Indexed: 10/11/2023]
24
Biglari S, Moghaddam AS, Tabatabaiefar MA, Sherkat R, Youssefian L, Saeidian AH, Vahidnezhad F, Tsoi LC, Gudjonsson JE, Hakonarson H, Casanova JL, Béziat V, Jouanguy E, Vahidnezhad H. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. Genet Med 2024;26:101028. [PMID: 37978863 PMCID: PMC10922824 DOI: 10.1016/j.gim.2023.101028] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/25/2023] [Revised: 11/06/2023] [Accepted: 11/08/2023] [Indexed: 11/19/2023]  Open
25
Liquidano-Perez E, Maza-Ramos G, Perez Arias BA, Lugo Reyes SO, Barragan Arevalo T, Solorzano-Morales SA, Venegas Montoya E, Staines-Boone AT, Guzmán Cotaya R, Okada S, Picard C, Patin E, Ramirez-Uribe N, Bustamante-Ogando JC, Scheffler-Mendoza SC, Yamazaki-Nakashimada MA, Saez-de-Ocariz M, Espinosa Padilla SE, Gonzalez-Serrano ME. Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency. Pediatr Allergy Immunol 2024;35:e14073. [PMID: 38351896 DOI: 10.1111/pai.14073] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/09/2023] [Revised: 12/16/2023] [Accepted: 01/07/2024] [Indexed: 02/16/2024]
26
Mohammadi T, Azizi G, Rafiemanesh H, Farahani P, Nirouei M, Tavakol M. A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome. Clin Exp Med 2023;23:4835-4859. [PMID: 37924455 DOI: 10.1007/s10238-023-01228-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/05/2023] [Accepted: 10/18/2023] [Indexed: 11/06/2023]
27
Wobma H, Janssen E. Expanding IPEX: Inborn Errors of Regulatory T Cells. Rheum Dis Clin North Am 2023;49:825-840. [PMID: 37821198 DOI: 10.1016/j.rdc.2023.06.009] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/13/2023]
28
Kasap N, Kara A, Celik V, Bilgic Eltan S, Akay Haci I, Kose H, Aygun A, Akkelle E, Yakici N, Guner SN, Reisli I, Keles S, Cekic S, Kilic SS, Karaca NE, Gulez N, Genel F, Ozen A, Yucelten AD, Karakoc-Aydiner E, Schmitz-Abe K, Baris S. Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis. J Clin Immunol 2023;43:1882-1890. [PMID: 37507632 DOI: 10.1007/s10875-023-01554-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/11/2023] [Accepted: 07/13/2023] [Indexed: 07/30/2023]
29
Mandato E, Yan Q, Ouyang J, Paczkowska J, Qin Y, Hao Y, Bojarczuk K, Hansen J, Chapuy B, Rodig SJ, Khan SJ, Redd RA, Shipp MA. MYD88L265P augments proximal B-cell receptor signaling in large B-cell lymphomas via an interaction with DOCK8. Blood 2023;142:1219-1232. [PMID: 37467575 DOI: 10.1182/blood.2023019865] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/21/2023] [Revised: 05/31/2023] [Accepted: 06/16/2023] [Indexed: 07/21/2023]  Open
30
Kono A, Wakamatsu M, Umezawa Y, Muramatsu H, Fujiwara H, Tomomasa D, Inoue K, Hattori K, Mitsui T, Takada H, Minegishi Y, Takahashi Y, Yamamoto M, Mori T, Kanegane H. Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors. Int J Hematol 2023;118:519-525. [PMID: 37131080 DOI: 10.1007/s12185-023-03613-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/07/2023] [Revised: 04/19/2023] [Accepted: 04/20/2023] [Indexed: 05/04/2023]
31
Wilkie H, Timilshina M, Rahmayanti S, Das M, Pelovitz T, Geha RS. DOCK8 is essential for neutrophil mediated clearance of cutaneous S. aureus infection. Clin Immunol 2023;254:109681. [PMID: 37385324 PMCID: PMC10529992 DOI: 10.1016/j.clim.2023.109681] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/14/2023] [Accepted: 06/26/2023] [Indexed: 07/01/2023]
32
Satitsuksanoa P, Iwasaki S, Boersma J, Bel Imam M, Schneider SR, Chang I, van de Veen W, Akdis M. B cells: The many facets of B cells in allergic diseases. J Allergy Clin Immunol 2023;152:567-581. [PMID: 37247640 DOI: 10.1016/j.jaci.2023.05.011] [Citation(s) in RCA: 12] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/31/2022] [Revised: 03/30/2023] [Accepted: 05/16/2023] [Indexed: 05/31/2023]
33
Johar RA, Hasanain A, Khouqeer Y. Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report. Cureus 2023;15:e43360. [PMID: 37701007 PMCID: PMC10494277 DOI: 10.7759/cureus.43360] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/21/2023] [Indexed: 09/14/2023]  Open
34
Baris S, Benamar M, Chen Q, Catak MC, Martínez-Blanco M, Wang M, Fong J, Massaad MJ, Sefer AP, Kara A, Babayeva R, Eltan SB, Yucelten AD, Bozkurtlar E, Cinel L, Karakoc-Aydiner E, Zheng Y, Wu H, Ozen A, Schmitz-Abe K, Chatila TA. Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6. J Allergy Clin Immunol 2023;152:182-194.e7. [PMID: 36758835 PMCID: PMC10330134 DOI: 10.1016/j.jaci.2023.01.023] [Citation(s) in RCA: 33] [Impact Index Per Article: 16.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/21/2022] [Revised: 01/20/2023] [Accepted: 01/26/2023] [Indexed: 02/10/2023]
35
Ma CS, Freeman AF, Fleisher TA. Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis. THE JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. IN PRACTICE 2023;11:1579-1591. [PMID: 37054882 PMCID: PMC10330903 DOI: 10.1016/j.jaip.2023.03.049] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/06/2023] [Revised: 03/13/2023] [Accepted: 03/31/2023] [Indexed: 04/15/2023]
36
Kothari R, Mohamed M, Vivekanandh K, Sandhu S, Sinha P, Bhatnagar A. Hyper-Immunoglobulin E Syndrome: Case Series of 6 Children from India. Indian Dermatol Online J 2023;14:379-382. [PMID: 37266097 PMCID: PMC10231702 DOI: 10.4103/idoj.idoj_472_22] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2022] [Revised: 11/14/2022] [Accepted: 12/25/2022] [Indexed: 06/03/2023]  Open
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Slatter M, Lum SH. Personalized hematopoietic stem cell transplantation for inborn errors of immunity. Front Immunol 2023;14:1162605. [PMID: 37090739 PMCID: PMC10113466 DOI: 10.3389/fimmu.2023.1162605] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/09/2023] [Accepted: 03/20/2023] [Indexed: 04/08/2023]  Open
38
Ma CS. T-helper-2 cells and atopic disease: lessons learnt from inborn errors of immunity. Curr Opin Immunol 2023;81:102298. [PMID: 36870225 DOI: 10.1016/j.coi.2023.102298] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/17/2022] [Revised: 01/30/2023] [Accepted: 02/02/2023] [Indexed: 03/06/2023]
39
Deciphering actin remodelling in immune cells through the prism of actin-related inborn errors of immunity. Eur J Cell Biol 2023;102:151283. [PMID: 36525824 DOI: 10.1016/j.ejcb.2022.151283] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/30/2022] [Revised: 11/14/2022] [Accepted: 11/14/2022] [Indexed: 12/14/2022]  Open
40
Moser LM, Fekadu J, Willasch A, Rettinger E, Sörensen J, Jarisch A, Kirwil M, Lieb A, Holzinger D, Calaminus G, Bader P, Bakhtiar S. Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation. Br J Haematol 2023;200:595-607. [PMID: 36214981 DOI: 10.1111/bjh.18497] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/09/2022] [Revised: 09/14/2022] [Accepted: 09/21/2022] [Indexed: 12/12/2022]
41
Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review. Pathogens 2023;12:pathogens12020272. [PMID: 36839544 PMCID: PMC9958715 DOI: 10.3390/pathogens12020272] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/08/2022] [Revised: 01/13/2023] [Accepted: 02/04/2023] [Indexed: 02/10/2023]  Open
42
Al-Tamemi S, Al-Zadjali S, Bruwer Z, Naseem SUR, Al-Siyabi N, ALRawahi M, Alkharusi K, Al-Thihli K, Al-Murshedi F, AlSayegh A, Al-Maawali A, Dennison D. Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study. J Clin Immunol 2023;43:452-465. [PMID: 36324046 DOI: 10.1007/s10875-022-01394-3] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/31/2022] [Accepted: 10/25/2022] [Indexed: 11/06/2022]
43
Su HC. Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency. Curr Opin Immunol 2023;80:102277. [PMID: 36508760 PMCID: PMC9972721 DOI: 10.1016/j.coi.2022.102277] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2022] [Revised: 11/01/2022] [Accepted: 11/25/2022] [Indexed: 12/13/2022]
44
Olewicz-Gawlik A, Kowala-Piaskowska A. Self-reactive IgE and anti-IgE therapy in autoimmune diseases. Front Pharmacol 2023;14:1112917. [PMID: 36755957 PMCID: PMC9899859 DOI: 10.3389/fphar.2023.1112917] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/30/2022] [Accepted: 01/06/2023] [Indexed: 01/24/2023]  Open
45
Yaakoubi R, Mekki N, Ben-Mustapha I, Ben-Khemis L, Bouaziz A, Ben Fraj I, Ammar J, Hamzaoui A, Turki H, Boussofara L, Denguezli M, Haddad S, Ouederni M, Bejaoui M, Chan KW, Lau YL, Mellouli F, Barbouche MR, Ben-Ali M. Diagnostic challenge in a series of eleven patients with hyper IgE syndromes. Front Immunol 2023;13:1057679. [PMID: 36703986 PMCID: PMC9871884 DOI: 10.3389/fimmu.2022.1057679] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/29/2022] [Accepted: 12/22/2022] [Indexed: 01/12/2023]  Open
46
Cohn IS, Henrickson SE, Striepen B, Hunter CA. Immunity to Cryptosporidium: Lessons from Acquired and Primary Immunodeficiencies. JOURNAL OF IMMUNOLOGY (BALTIMORE, MD. : 1950) 2022;209:2261-2268. [PMID: 36469846 PMCID: PMC9731348 DOI: 10.4049/jimmunol.2200512] [Citation(s) in RCA: 10] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/14/2022] [Accepted: 08/30/2022] [Indexed: 01/04/2023]
47
Sharma D, Ben Yakov G, Kapuria D, Viana Rodriguez G, Gewirtz M, Haddad J, Kleiner DE, Koh C, Bergerson JRE, Freeman AF, Heller T. Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity. Hepatology 2022;76:1845-1861. [PMID: 35466407 DOI: 10.1002/hep.32539] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/13/2021] [Revised: 03/30/2022] [Accepted: 04/17/2022] [Indexed: 12/08/2022]
48
Silbert S, Cole K, Bedoya SZ, Freeman AF, Whangbo JS, Avila DN, Su HC, Yates B, Epstein M, Wendler DS, Pai SY, Hickstein DD, Wiener L, Shah NN. Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency. Bone Marrow Transplant 2022;57:1721-1723. [PMID: 35999252 PMCID: PMC10391740 DOI: 10.1038/s41409-022-01778-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/11/2022] [Revised: 08/02/2022] [Accepted: 08/03/2022] [Indexed: 11/08/2022]
49
Alshengeti A. Eczema herpeticum vs dermatitis herpetiformis as a clue of dedicator of cytokinesis 8 deficiency diagnosis: A case report. World J Clin Cases 2022;10:10735-10741. [PMID: 36312485 PMCID: PMC9602220 DOI: 10.12998/wjcc.v10.i29.10735] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/27/2022] [Revised: 08/10/2022] [Accepted: 09/07/2022] [Indexed: 02/05/2023]  Open
50
Pan C, Zhao A, Li M. Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management. Diagnostics (Basel) 2022;12:diagnostics12092177. [PMID: 36140582 PMCID: PMC9498295 DOI: 10.3390/diagnostics12092177] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/30/2022] [Revised: 07/23/2022] [Accepted: 08/15/2022] [Indexed: 11/29/2022]  Open
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