257 related articles for article (PubMed ID: 30309848)
1. Selective loss of function variants in
Shahin T; Aschenbrenner D; Cagdas D; Bal SK; Conde CD; Garncarz W; Medgyesi D; Schwerd T; Karaatmaca B; Cetinkaya PG; Esenboga S; Twigg SRF; Cant A; Wilkie AOM; Tezcan I; Uhlig HH; Boztug K
Haematologica; 2019 Mar; 104(3):609-621. PubMed ID: 30309848
[TBL] [Abstract][Full Text] [Related]
2. Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Chen YH; Zastrow DB; Metcalfe RD; Gartner L; Krause F; Morton CJ; Marwaha S; Fresard L; Huang Y; Zhao C; McCormack C; Bick D; Worthey EA; Eng CM; Gold J; Undiagnosed Diseases Network ; Montgomery SB; Fisher PG; Ashley EA; Wheeler MT; Parker MW; Shanmugasundaram V; Putoczki TL; Schmidt-Arras D; Laurence A; Bernstein JA; Griffin MDW; Uhlig HH
J Allergy Clin Immunol; 2021 Aug; 148(2):585-598. PubMed ID: 33771552
[TBL] [Abstract][Full Text] [Related]
3. A biallelic mutation in
Schwerd T; Twigg SRF; Aschenbrenner D; Manrique S; Miller KA; Taylor IB; Capitani M; McGowan SJ; Sweeney E; Weber A; Chen L; Bowness P; Riordan A; Cant A; Freeman AF; Milner JD; Holland SM; Frede N; Müller M; Schmidt-Arras D; Grimbacher B; Wall SA; Jones EY; Wilkie AOM; Uhlig HH
J Exp Med; 2017 Sep; 214(9):2547-2562. PubMed ID: 28747427
[TBL] [Abstract][Full Text] [Related]
4. An Update on Syndromes with a Hyper-IgE Phenotype.
Bergerson JRE; Freeman AF
Immunol Allergy Clin North Am; 2019 Feb; 39(1):49-61. PubMed ID: 30466772
[TBL] [Abstract][Full Text] [Related]
5. Impaired memory B-cell development and antibody maturation with a skewing toward IgE in patients with STAT3 hyper-IgE syndrome.
van de Veen W; Krätz CE; McKenzie CI; Aui PM; Neumann J; van Noesel CJM; Wirz OF; Hagl B; Kröner C; Spielberger BD; Akdis CA; van Zelm MC; Akdis M; Renner ED
Allergy; 2019 Dec; 74(12):2394-2405. PubMed ID: 31269238
[TBL] [Abstract][Full Text] [Related]
6. New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Arlabosse T; Materna M; Riccio O; Schnider C; Angelini F; Perreau M; Rochat I; Superti-Furga A; Campos-Xavier B; Héritier S; Pereira A; Deswarte C; Lévy R; Distefano M; Bustamante J; Roelens M; Borie R; Le Brun M; Crestani B; Casanova JL; Puel A; Hofer M; Fieschi C; Theodoropoulou K; Béziat V; Candotti F
J Clin Immunol; 2023 Oct; 43(7):1566-1580. PubMed ID: 37273120
[TBL] [Abstract][Full Text] [Related]
7. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V; Tavernier SJ; Chen YH; Ma CS; Materna M; Laurence A; Staal J; Aschenbrenner D; Roels L; Worley L; Claes K; Gartner L; Kohn LA; De Bruyne M; Schmitz-Abe K; Charbonnier LM; Keles S; Nammour J; Vladikine N; Maglorius Renkilaraj MRL; Seeleuthner Y; Migaud M; Rosain J; Jeljeli M; Boisson B; Van Braeckel E; Rosenfeld JA; Dai H; Burrage LC; Murdock DR; Lambrecht BN; Avettand-Fenoel V; Vogel TP; ; Esther CR; Haskologlu S; Dogu F; Ciznar P; Boutboul D; Ouachée-Chardin M; Amourette J; Lebras MN; Gauvain C; Tcherakian C; Ikinciogullari A; Beyaert R; Abel L; Milner JD; Grimbacher B; Couderc LJ; Butte MJ; Freeman AF; Catherinot É; Fieschi C; Chatila TA; Tangye SG; Uhlig HH; Haerynck F; Casanova JL; Puel A
J Exp Med; 2020 Jun; 217(6):. PubMed ID: 32207811
[TBL] [Abstract][Full Text] [Related]
8. The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Chen YH; van Zon S; Adams A; Schmidt-Arras D; Laurence ADJ; Uhlig HH
J Clin Immunol; 2023 Dec; 44(1):30. PubMed ID: 38133879
[TBL] [Abstract][Full Text] [Related]
9. Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome.
Becker KL; Rösler B; Wang X; Lachmandas E; Kamsteeg M; Jacobs CW; Joosten LA; Netea MG; van de Veerdonk FL
Clin Exp Allergy; 2016 Dec; 46(12):1564-1574. PubMed ID: 27474157
[TBL] [Abstract][Full Text] [Related]
10. Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B; Lamara Mahammed L; Mohand Oussaid A; Migaud M; Khadri Y; Casanova JL; Puel A; Ben Halla N; Djidjik R
Front Immunol; 2021; 12():696350. PubMed ID: 34248995
[TBL] [Abstract][Full Text] [Related]
11. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
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; Kutukculer N; Camcioğlu Y; Somer A; Karakoc-Aydiner E; Barlan I; Gennery A; Metin A; Degerliyurt A; Pietrogrande MC; Yeganeh M; Baz Z; Al-Tamemi S; Klein C; Puck JM; Holland SM; McCabe ER; Grimbacher B; Chatila TA
J Allergy Clin Immunol; 2009 Dec; 124(6):1289-302.e4. PubMed ID: 20004785
[TBL] [Abstract][Full Text] [Related]
12. Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A; Pollak A; Gawalski K; Szczawinska-Poplonyk A; Rydzynska Z; Sosnowska A; Cukrowska B; Gasperowicz P; Konopka E; Pietrucha B; Grzywa TM; Banaszak-Ziemska M; Niedziela M; Skalska-Sadowska J; Stawiński P; Śladowski D; Nowis D; Ploski R
Hum Mol Genet; 2021 Apr; 30(3-4):226-233. PubMed ID: 33517393
[TBL] [Abstract][Full Text] [Related]
13. Human hyper-IgE syndrome: singular or plural?
Zhang Q; Boisson B; Béziat V; Puel A; Casanova JL
Mamm Genome; 2018 Aug; 29(7-8):603-617. PubMed ID: 30094507
[TBL] [Abstract][Full Text] [Related]
14. CD3
Mohd Shukri ND; Farah Izati A; Wan Ghazali WS; Che Hussin CM; Wong KK
Front Immunol; 2021; 12():675250. PubMed ID: 34149710
[TBL] [Abstract][Full Text] [Related]
15. STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.
Goel S; Sahu S; Minz RW; Singh S; Suri D; Oh YM; Rawat A; Sehgal S; Saikia B
Front Immunol; 2018; 9():1080. PubMed ID: 29868029
[TBL] [Abstract][Full Text] [Related]
16. Inborn errors of IL-6 family cytokine responses.
Chen YH; Spencer S; Laurence A; Thaventhiran JE; Uhlig HH
Curr Opin Immunol; 2021 Oct; 72():135-145. PubMed ID: 34044328
[TBL] [Abstract][Full Text] [Related]
17. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
Al Khatib S; Keles S; Garcia-Lloret M; Karakoc-Aydiner E; Reisli I; Artac H; Camcioglu Y; Cokugras H; Somer A; Kutukculer N; Yilmaz M; Ikinciogullari A; Yegin O; Yüksek M; Genel F; Kucukosmanoglu E; Baki A; Bahceciler NN; Rambhatla A; Nickerson DW; McGhee S; Barlan IB; Chatila T
J Allergy Clin Immunol; 2009 Aug; 124(2):342-8, 348.e1-5. PubMed ID: 19577286
[TBL] [Abstract][Full Text] [Related]
18. No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome.
Renner ED; Pawlita I; Hoffmann F; Hornung V; Hartl D; Albert M; Jansson A; Endres S; Hartmann G; Belohradsky BH; Rothenfusser S
J Clin Immunol; 2005 Jul; 25(4):321-8. PubMed ID: 16133988
[TBL] [Abstract][Full Text] [Related]
19. An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect.
Basu S; Goel S; Rawat A; Vignesh P; Saikia B
J Clin Immunol; 2024 Apr; 44(4):90. PubMed ID: 38578568
[No Abstract] [Full Text] [Related]
20. Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.
Wu J; Chen J; Tian ZQ; Zhang H; Gong RL; Chen TX; Hong L
J Clin Immunol; 2017 Feb; 37(2):166-179. PubMed ID: 28197791
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]