{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T10:56:12Z","timestamp":1782730572801,"version":"3.54.5"},"reference-count":78,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1016\/j.clim.2022.108988","type":"journal-article","created":{"date-parts":[[2022,3,26]],"date-time":"2022-03-26T19:13:41Z","timestamp":1648322021000},"page":"108988","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"special_numbering":"C","title":["Hyper IgE syndromes: A clinical approach"],"prefix":"10.1016","volume":"237","author":[{"given":"Azadeh","family":"Gharehzadehshirazi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas","family":"Amini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Rezaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.clim.2022.108988_bb0005","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1111\/imcb.12209","article-title":"Hyper IgE syndromes: clinical and molecular characteristics","volume":"97","author":"Al-Shaikhly","year":"2019","journal-title":"Immunol. Cell Biol."},{"issue":"6","key":"10.1016\/j.clim.2022.108988_bb0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/ar4069","article-title":"An update on the hyper-IgE syndromes","volume":"14","author":"Yong","year":"2012","journal-title":"Arthritis Res. Ther."},{"issue":"4","key":"10.1016\/j.clim.2022.108988_bb0015","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0b013e31825f95b9","article-title":"Autosomal dominant STAT3 deficiency and hyper-IgE syndrome molecular, cellular, and clinical features from a French National Survey","volume":"91","author":"Chandesris","year":"2012","journal-title":"Medicine"},{"issue":"7","key":"10.1016\/j.clim.2022.108988_bb0020","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1111\/all.12416","article-title":"Atopic dermatitis, STAT 3-and DOCK 8-hyper-IgE syndromes differ in IgE-based sensitization pattern","volume":"69","author":"Boos","year":"2014","journal-title":"Allergy"},{"key":"10.1016\/j.clim.2022.108988_bb0025","article-title":"STAT3 hyper IgE syndrome","author":"Hsu","year":"2020","journal-title":"GeneReviews\u00ae[Internet]"},{"issue":"16","key":"10.1016\/j.clim.2022.108988_bb0030","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1056\/NEJMoa073687","article-title":"STAT3 mutations in the hyper-IgE syndrome","volume":"357","author":"Holland","year":"2007","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.clim.2022.108988_bb0035","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.iac.2008.01.005","article-title":"The hyper-IgE syndromes","volume":"28","author":"Freeman","year":"2008","journal-title":"Immunol. Allergy Clin. N. Am."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0040","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1182\/blood-2008-02-142745","article-title":"STAT3 is required for IL-21\u2013induced secretion of IgE from human naive B cells","volume":"112","author":"Avery","year":"2008","journal-title":"Blood"},{"issue":"10","key":"10.1016\/j.clim.2022.108988_bb0045","doi-asserted-by":"crossref","first-page":"2271","DOI":"10.1084\/jem.20061308","article-title":"Interleukin (IL)-22 and IL-17 are coexpressed by Th17 cells and cooperatively enhance expression of antimicrobial peptides","volume":"203","author":"Liang","year":"2006","journal-title":"J. Exp. Med."},{"issue":"4","key":"10.1016\/j.clim.2022.108988_bb0050","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.immuni.2014.10.004","article-title":"T follicular helper cell differentiation, function, and roles in disease","volume":"41","author":"Crotty","year":"2014","journal-title":"Immunity"},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0055","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0155040","article-title":"Stat3 is important for follicular regulatory T cell differentiation","volume":"11","author":"Wu","year":"2016","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0060","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.cyto.2009.07.003","article-title":"STAT3 in CD4+ T helper cell differentiation and inflammatory diseases","volume":"47","author":"Egwuagu","year":"2009","journal-title":"Cytokine"},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0065","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1016\/j.jaci.2011.07.046","article-title":"Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome","volume":"128","author":"Sekhsaria","year":"2011","journal-title":"J. Allergy Clin. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0070","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ajhg.2011.05.024","article-title":"Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth","volume":"89","author":"Nieminen","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.clim.2022.108988_bb0075","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1001\/archderm.140.9.1119","article-title":"Dermatitis and the newborn rash of hyper-IgE syndrome","volume":"140","author":"Eberting","year":"2004","journal-title":"Arch. Dermatol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0080","first-page":"49","article-title":"An update on syndromes with a hyper-IgE phenotype","volume":"39","author":"Bergerson","year":"2019","journal-title":"Immunol. Allergy Clin."},{"issue":"7","key":"10.1016\/j.clim.2022.108988_bb0085","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s10875-017-0429-z","article-title":"Gastrointestinal manifestations of STAT3-deficient hyper-IgE syndrome","volume":"37","author":"Arora","year":"2017","journal-title":"J. Clin. Immunol."},{"issue":"12","key":"10.1016\/j.clim.2022.108988_bb0090","doi-asserted-by":"crossref","first-page":"2521","DOI":"10.1080\/10428190400004463","article-title":"Non-Hodgkin\u2019s lymphoma in Job\u2019s syndrome: a case report and literature review","volume":"45","author":"Leonard","year":"2004","journal-title":"Leukemia Lymphoma"},{"key":"10.1016\/j.clim.2022.108988_bb0095","series-title":"The Development of Pulmonary Adenocarcinoma in a Patient With Job\u2019s Syndrome, a Rare Immunodeficiency Condition","author":"Oztop","year":"2004"},{"issue":"9","key":"10.1016\/j.clim.2022.108988_bb0100","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1056\/NEJM199903043400904","article-title":"Hyper-IgE syndrome with recurrent infections\u2014an autosomal dominant multisystem disorder","volume":"340","author":"Grimbacher","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2022.108988_bb0105","first-page":"1","article-title":"STAT3 hyper-IgE syndrome\u2014an update and unanswered questions","author":"Tsilifis","year":"2021","journal-title":"J. Clin. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0110","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1084\/jem.20091706","article-title":"B cell\u2013intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans","volume":"207","author":"Avery","year":"2010","journal-title":"J. Exp. Med."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0115","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/icb.2013.55","article-title":"Human T follicular helper (Tfh) cells and disease","volume":"92","author":"Ma","year":"2014","journal-title":"Immunol. Cell Biol."},{"issue":"21","key":"10.1016\/j.clim.2022.108988_bb0120","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1056\/NEJMoa0905506","article-title":"Combined immunodeficiency associated with DOCK8 mutations","volume":"361","author":"Zhang","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.clim.2022.108988_bb0125","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.jaci.2009.10.038","article-title":"Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome","volume":"124","author":"Engelhardt","year":"2009","journal-title":"J. Allergy Clin. Immunol."},{"issue":"6","key":"10.1016\/j.clim.2022.108988_bb0130","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ni.2317","article-title":"DOCKing innate to adaptive signaling for persistent antibody production","volume":"13","author":"Werner","year":"2012","journal-title":"Nat. Immunol."},{"issue":"6","key":"10.1016\/j.clim.2022.108988_bb0135","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1038\/ni.2305","article-title":"DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation","volume":"13","author":"Jabara","year":"2012","journal-title":"Nat. Immunol."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0140","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/cmi.2017.9","article-title":"DOCK8 regulates signal transduction events to control immunity","volume":"14","author":"Kearney","year":"2017","journal-title":"Cell. Mol. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0145","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1001\/archdermatol.2011.262","article-title":"Cutaneous manifestations of DOCK8 deficiency syndrome","volume":"148","author":"Chu","year":"2012","journal-title":"Arch. Dermatol."},{"key":"10.1016\/j.clim.2022.108988_bb0150","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.clim.2017.06.003","article-title":"DOCK8 deficiency: insights into pathophysiology, clinical features and management","volume":"181","author":"Biggs","year":"2017","journal-title":"Clin. Immunol."},{"issue":"2","key":"10.1016\/j.clim.2022.108988_bb0155","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.jaci.2014.12.1945","article-title":"The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency","volume":"136","author":"Engelhardt","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"issue":"24","key":"10.1016\/j.clim.2022.108988_bb0160","doi-asserted-by":"crossref","DOI":"10.1126\/sciimmunol.aat4941","article-title":"ZNF341 controls STAT3 expression and thereby immunocompetence","volume":"3","author":"Frey-Jakobs","year":"2018","journal-title":"Sci. Immunol."},{"issue":"24","key":"10.1016\/j.clim.2022.108988_bb0165","doi-asserted-by":"crossref","DOI":"10.1126\/sciimmunol.aat4956","article-title":"A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity","volume":"3","author":"B\u00e9ziat","year":"2018","journal-title":"Sci. Immunol."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0170","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1016\/j.jaci.2010.12.1081","article-title":"Decreased T-cell receptor signaling through CARD11 differentially compromises forkhead box protein 3\u2013positive regulatory versus TH2 effector cells to cause allergy","volume":"127","author":"Altin","year":"2011","journal-title":"J. Allergy Clin. Immunol."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0175","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1016\/j.jaci.2017.06.047","article-title":"Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)","volume":"141","author":"Dadi","year":"2018","journal-title":"J. Allergy Clin. Immunol."},{"issue":"4","key":"10.1016\/j.clim.2022.108988_bb0180","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/j.jaci.2018.08.013","article-title":"Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease","volume":"143","author":"Dorjbal","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"issue":"8","key":"10.1016\/j.clim.2022.108988_bb0185","doi-asserted-by":"crossref","first-page":"3086","DOI":"10.4049\/jimmunol.1502031","article-title":"Global analysis of O-GlcNAc glycoproteins in activated human T cells","volume":"197","author":"Lund","year":"2016","journal-title":"J. Immunol."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0190","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.jaci.2014.02.013","article-title":"Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment","volume":"133","author":"Zhang","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0195","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1016\/j.jaci.2014.02.025","article-title":"Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels","volume":"133","author":"Sassi","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"issue":"2","key":"10.1016\/j.clim.2022.108988_bb0200","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a028415","article-title":"Interleukin-6 family cytokines","volume":"10","author":"Rose-John","year":"2018","journal-title":"Cold Spring Harb. Perspect. Biol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0205","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12964-017-0177-y","article-title":"The role of JAK-STAT signaling pathway and its regulators in the fate of T helper cells","volume":"15","author":"Seif","year":"2017","journal-title":"Cell Commun. Signal."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0210","doi-asserted-by":"crossref","first-page":"609","DOI":"10.3324\/haematol.2018.194233","article-title":"Selective loss of function variants in IL6ST cause hyper-IgE syndrome with distinct impairments of T-cell phenotype and function","volume":"104","author":"Shahin","year":"2019","journal-title":"Haematologica"},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0215","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/ni.3153","article-title":"IL-6 as a keystone cytokine in health and disease","volume":"16","author":"Hunter","year":"2015","journal-title":"Nat. Immunol."},{"issue":"9","key":"10.1016\/j.clim.2022.108988_bb0220","doi-asserted-by":"crossref","first-page":"2547","DOI":"10.1084\/jem.20161810","article-title":"A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis","volume":"214","author":"Schwerd","year":"2017","journal-title":"J. Exp. Med."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0225","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s10875-019-00737-x","article-title":"Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee","volume":"40","author":"Tangye","year":"2020","journal-title":"J. Clin. Immunol."},{"issue":"10","key":"10.1016\/j.clim.2022.108988_bb0230","doi-asserted-by":"crossref","first-page":"5890","DOI":"10.4049\/jimmunol.176.10.5890","article-title":"Differential effects of IL-27 on human B cell subsets","volume":"176","author":"Larousserie","year":"2006","journal-title":"J. Immunol."},{"key":"10.1016\/j.clim.2022.108988_bb0235","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.coi.2021.04.007","article-title":"Inborn errors of IL-6 family cytokine responses","volume":"72","author":"Chen","year":"2021","journal-title":"Curr. Opin. Immunol."},{"issue":"6","key":"10.1016\/j.clim.2022.108988_bb0240","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20191804","article-title":"Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome","volume":"217","author":"B\u00e9ziat","year":"2020","journal-title":"J. Exp. Med."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0245","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41413-020-0098-z","article-title":"A variant in IL6ST with a selective IL-11 signaling defect in human and mouse","volume":"8","author":"Schwerd","year":"2020","journal-title":"Bone Res."},{"issue":"10","key":"10.1016\/j.clim.2022.108988_bb0250","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a016295","article-title":"IL-6 in inflammation, immunity, and disease","volume":"6","author":"Tanaka","year":"2014","journal-title":"Cold Spring Harb. Perspect. Biol."},{"issue":"9","key":"10.1016\/j.clim.2022.108988_bb0255","doi-asserted-by":"crossref","first-page":"1969","DOI":"10.1084\/jem.20191002","article-title":"The nature of human IL-6","volume":"216","author":"Puel","year":"2019","journal-title":"J. Exp. Med."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0260","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1600-065X.2008.00628.x","article-title":"Th17 cells in human disease","volume":"223","author":"Tesmer","year":"2008","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.clim.2022.108988_bb0265","series-title":"T Helper Cell Differentiation and Their Function","first-page":"209","article-title":"The biology and functions of Th22 cells","author":"Jia","year":"2014"},{"issue":"9","key":"10.1016\/j.clim.2022.108988_bb0270","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1084\/jem.20190344","article-title":"Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses","volume":"216","author":"Spencer","year":"2019","journal-title":"J. Exp. Med."},{"issue":"19","key":"10.1016\/j.clim.2022.108988_bb0275","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1093\/hmg\/ddg247","article-title":"LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome","volume":"12","author":"Bitoun","year":"2003","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.clim.2022.108988_bb0280","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/75977","article-title":"Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome","volume":"25","author":"Chavanas","year":"2000","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0285","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1172\/JCI41440","article-title":"Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing","volume":"120","author":"Bonnart","year":"2010","journal-title":"J. Clin. Invest."},{"issue":"9","key":"10.1016\/j.clim.2022.108988_bb0290","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1091\/mbc.e07-02-0124","article-title":"LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction","volume":"18","author":"Deraison","year":"2007","journal-title":"Mol. Biol. Cell"},{"issue":"7","key":"10.1016\/j.clim.2022.108988_bb0295","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1038\/sj.jid.5700284","article-title":"Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin-and chymotrypsin-like hyperactivity in Netherton syndrome","volume":"126","author":"Descargues","year":"2006","journal-title":"J. Investig. Dermatol."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0300","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1084\/jem.20082242","article-title":"Kallikrein 5 induces atopic dermatitis\u2013like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome","volume":"206","author":"Briot","year":"2009","journal-title":"J. Exp. Med."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0305","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.jaci.2009.06.009","article-title":"Comel-Netherton syndrome defined as primary immunodeficiency","volume":"124","author":"Renner","year":"2009","journal-title":"J. Allergy Clin. Immunol."},{"issue":"5","key":"10.1016\/j.clim.2022.108988_bb0310","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/j.1365-2133.1994.tb04971.x","article-title":"A clinical and immunological study of Netherton\u2019s syndrome","volume":"131","author":"Judge","year":"1994","journal-title":"Br. J. Dermatol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0315","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1046\/j.1525-1470.1999.99005.x","article-title":"Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome","volume":"16","author":"Stryk","year":"1999","journal-title":"Pediatr. Dermatol."},{"issue":"6","key":"10.1016\/j.clim.2022.108988_bb0320","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1097\/HCO.0b013e32833f0220","article-title":"The Loeys\u2013Dietz syndrome: an update for the clinician","volume":"25","author":"Van Hemelrijk","year":"2010","journal-title":"Curr. Opin. Cardiol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0325","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1172\/JCI69666","article-title":"Angiotensin II\u2013dependent TGF-\u03b2 signaling contributes to Loeys-Dietz syndrome vascular pathogenesis","volume":"124","author":"Gallo","year":"2014","journal-title":"J. Clin. Invest."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0330","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.clim.2013.11.008","article-title":"Severe eczema and hyper-IgE in Loeys\u2013Dietz-syndrome\u2014contribution to new findings of immune dysregulation in connective tissue disorders","volume":"150","author":"Felgentreff","year":"2014","journal-title":"Clin. Immunol."},{"issue":"8","key":"10.1016\/j.clim.2022.108988_bb0335","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/gim.2014.11","article-title":"Loeys\u2013Dietz syndrome: a primer for diagnosis and management","volume":"16","author":"MacCarrick","year":"2014","journal-title":"Genet. Med."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0340","first-page":"996","article-title":"Autosomal dominant hyper-IgE syndrome in the USIDNET registry","volume":"6","author":"Gernez","year":"2018","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2022.108988_bb0345","first-page":"1","article-title":"Hematopoietic stem cell transplantation resolves the immune deficit associated with STAT3-dominant-negative hyper-IgE syndrome","author":"Harrison","year":"2021","journal-title":"J. Clin. Immunol."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0350","doi-asserted-by":"crossref","DOI":"10.1172\/JCI142434","article-title":"Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency","volume":"131","author":"Pillay","year":"2021","journal-title":"J. Clin. Invest."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0355","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1084\/jem.20161435","article-title":"ERBIN deficiency links STAT3 and TGF-\u03b2 pathway defects with atopy in humans","volume":"214","author":"Lyons","year":"2017","journal-title":"J. Exp. Med."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0360","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.ajhg.2014.05.007","article-title":"PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia","volume":"95","author":"Stray-Pedersen","year":"2014","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.clim.2022.108988_bb0365","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1007\/s00335-018-9767-2","article-title":"Human hyper-IgE syndrome: singular or plural?","volume":"29","author":"Zhang","year":"2018","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.clim.2022.108988_bb0370","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.3389\/fcell.2021.688314","article-title":"Endosomes as signaling platforms for IL-6 family cytokine receptors","volume":"9","author":"Schmidt-Arras","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"issue":"2","key":"10.1016\/j.clim.2022.108988_bb0375","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/eji.1830230226","article-title":"The soluble interleukin-6 receptor is generated by shedding","volume":"23","author":"M\u00fclberg","year":"1993","journal-title":"Eur. J. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2022.108988_bb0380","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.2000080","article-title":"Proteolytic origin of the soluble human IL-6R in vivo and a decisive role of N-glycosylation","volume":"15","author":"Riethmueller","year":"2017","journal-title":"PLoS Biol."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0385","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1016\/j.jaci.2019.11.015","article-title":"Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency","volume":"145","author":"Nahum","year":"2020","journal-title":"J. Allergy Clin. Immunol."},{"issue":"3","key":"10.1016\/j.clim.2022.108988_bb0390","doi-asserted-by":"crossref","first-page":"e1600","DOI":"10.1002\/mgg3.1600","article-title":"Netherton syndrome caused by compound heterozygous mutation, c. 80A> G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin","volume":"9","author":"Zhang","year":"2021","journal-title":"Mol. Genet. Genom. Med."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661622000699?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661622000699?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:05:49Z","timestamp":1761494749000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661622000699"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":78,"alternative-id":["S1521661622000699"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2022.108988","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hyper IgE syndromes: A clinical approach","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2022.108988","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108988"}}