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Items: 1 to 20 of 199

1.

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; Undiagnosed Diseases Network, 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 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
2.

Genetic susceptibility to EBV infection: insights from inborn errors of immunity.

Tangye SG.

Hum Genet. 2020 Mar 9. doi: 10.1007/s00439-020-02145-3. [Epub ahead of print] Review.

PMID:
32152698
3.

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE.

J Clin Immunol. 2020 Jan;40(1):65. doi: 10.1007/s10875-020-00763-0.

PMID:
32086639
4.

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG.

J Clin Immunol. 2020 Jan;40(1):66-81. doi: 10.1007/s10875-020-00758-x. Epub 2020 Feb 11.

5.

Human inborn errors of immunity to herpes viruses.

Jouanguy E, Béziat V, Mogensen TH, Casanova JL, Tangye SG, Zhang SY.

Curr Opin Immunol. 2020 Feb;62:106-122. doi: 10.1016/j.coi.2020.01.004. Epub 2020 Jan 31. Review.

PMID:
32014647
6.

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.

Bucciol G, Pillay B, Casas-Martin J, Delafontaine S, Proesmans M, Lorent N, Coolen J, Tousseyn T, Bossuyt X, Ma CS, Schrijvers R, Tangye SG, Moens L, Meyts I.

J Clin Immunol. 2020 Jan 18. doi: 10.1007/s10875-020-00742-5. [Epub ahead of print] No abstract available.

PMID:
31953712
7.

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE.

J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17. Erratum in: J Clin Immunol. 2020 Feb 22;:.

8.

Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.

Tangye SG, Latour S.

Blood. 2020 Feb 27;135(9):644-655. doi: 10.1182/blood.2019000928.

PMID:
31942615
9.

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.

Klinken EM, Gray PE, Pillay B, Worley L, Edwards ESJ, Payne K, Bennetts B, Hung D, Wood BA, Chan JJ, Marshall GM, Mitchell R, Uzel G, Ma CS, Tangye SG, McLean-Tooke A.

J Clin Immunol. 2020 Feb;40(2):299-309. doi: 10.1007/s10875-019-00732-2. Epub 2019 Dec 21.

PMID:
31865525
10.

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production.

Lau A, Avery DT, Jackson K, Lenthall H, Volpi S, Brigden H, Russell AJ, Bier J, Reed JH, Smart JM, Cole T, Choo S, Gray PE, Berglund LJ, Hsu P, Wong M, O'Sullivan M, Boztug K, Meyts I, Uzel G, Notarangelo LD, Brink R, Goodnow CC, Tangye SG, Deenick EK.

J Exp Med. 2020 Feb 3;217(2). pii: e20191336. doi: 10.1084/jem.20191336.

PMID:
31841125
11.

Regulation of the germinal center and humoral immunity by interleukin-21.

Tangye SG, Ma CS.

J Exp Med. 2020 Jan 6;217(1). pii: e20191638. doi: 10.1084/jem.20191638.

PMID:
31821441
12.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965. Erratum in: Sci Immunol. 2020 Jan 3;5(43):.

PMID:
31784499
13.

Flow Cytometric-Based Analysis of Defects in Lymphocyte Differentiation and Function Due to Inborn Errors of Immunity.

Ma CS, Tangye SG.

Front Immunol. 2019 Sep 4;10:2108. doi: 10.3389/fimmu.2019.02108. eCollection 2019. Review.

14.

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.

Zammit NW, Siggs OM, Gray PE, Horikawa K, Langley DB, Walters SN, Daley SR, Loetsch C, Warren J, Yap JY, Cultrone D, Russell A, Malle EK, Villanueva JE, Cowley MJ, Gayevskiy V, Dinger ME, Brink R, Zahra D, Chaudhri G, Karupiah G, Whittle B, Roots C, Bertram E, Yamada M, Jeelall Y, Enders A, Clifton BE, Mabbitt PD, Jackson CJ, Watson SR, Jenne CN, Lanier LL, Wiltshire T, Spitzer MH, Nolan GP, Schmitz F, Aderem A, Porebski BT, Buckle AM, Abbott DW, Ziegler JB, Craig ME, Benitez-Aguirre P, Teo J, Tangye SG, King C, Wong M, Cox MP, Phung W, Tang J, Sandoval W, Wertz IE, Christ D, Goodnow CC, Grey ST.

Nat Immunol. 2019 Oct;20(10):1299-1310. doi: 10.1038/s41590-019-0492-0. Epub 2019 Sep 18.

PMID:
31534238
15.

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Khourieh J, Rao G, Habib T, Avery DT, Lefèvre-Utile A, Chandesris MO, Belkadi A, Chrabieh M, Alwaseem H, Grandin V, Sarrot-Reynauld F, Sénéchal A, Lortholary O, Kong XF, Boisson-Dupuis S, Picard C, Puel A, Béziat V, Zhang Q, Abel L, Molina H, Marr N, Tangye SG, Casanova JL, Boisson B.

Proc Natl Acad Sci U S A. 2019 Aug 13;116(33):16463-16472. doi: 10.1073/pnas.1901409116. Epub 2019 Jul 25.

16.

The Next Generation of Diagnostic Tests for Primary Immunodeficiency Disorders.

French MA, Tangye SG.

J Infect Dis. 2020 Mar 28;221(8):1232-1234. doi: 10.1093/infdis/jiz230. No abstract available.

PMID:
31268150
17.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS.

JCI Insight. 2019 Apr 25;5. pii: 127527. doi: 10.1172/jci.insight.127527.

18.

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

Tangye SG, Bier J, Lau A, Nguyen T, Uzel G, Deenick EK.

J Clin Immunol. 2019 Feb;39(2):148-158. doi: 10.1007/s10875-019-00612-9. Epub 2019 Mar 25. Review.

PMID:
30911953
19.

The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome.

Frith K, Joly AL, Ma CS, Tangye SG, Lohse Z, Seitz C, Verge CF, Andersson J, Gray P.

J Allergy Clin Immunol. 2019 Jul;144(1):317-320.e8. doi: 10.1016/j.jaci.2019.03.003. Epub 2019 Mar 21. No abstract available.

PMID:
30904640
20.

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.

Moens L, Gouwy M, Bosch B, Pastukhov O, Nieto-Patlàn A, Siler U, Bucciol G, Mekahli D, Vermeulen F, Desmet L, Maebe S, Flipts H, Corveleyn A, Moshous D, Philippet P, Tangye SG, Boisson B, Casanova JL, Florkin B, Struyf S, Reichenbach J, Bustamante J, Notarangelo LD, Meyts I.

J Clin Immunol. 2019 Apr;39(3):298-308. doi: 10.1007/s10875-019-00603-w. Epub 2019 Mar 5.

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