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Items: 1 to 20 of 182

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.

The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation.

Moriya K, Kadowaki S, Nakano T, Akarcan SE, Kutukculer N, Aksu G, Sasahara Y, Kure S, Ohnishi H, Casanova JL, Puel A, Fukao T.

J Clin Immunol. 2020 Mar 17. doi: 10.1007/s10875-020-00770-1. [Epub ahead of print] No abstract available.

PMID:
32185578
3.

Human inborn errors of immunity underlying superficial or invasive candidiasis.

Puel A.

Hum Genet. 2020 Mar 2. doi: 10.1007/s00439-020-02141-7. [Epub ahead of print] Review.

PMID:
32124012
4.

Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses.

Danion F, Aimanianda V, Bayry J, Duréault A, Wong SSW, Bougnoux ME, Tcherakian C, Alyanakian MA, Guegan H, Puel A, Picard C, Lortholary O, Lanternier F, Latgé JP.

Front Immunol. 2020 Jan 28;11:38. doi: 10.3389/fimmu.2020.00038. eCollection 2020.

5.

Human BCL10 Deficiency due to Homozygosity for a Rare Allele.

Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, Perez de Diego R.

J Clin Immunol. 2020 Feb;40(2):388-398. doi: 10.1007/s10875-020-00760-3. Epub 2020 Feb 1.

PMID:
32008135
6.

Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome.

Lévy R, Béziat V, Barbieux C, Puel A, Bourrat E, Casanova JL, Hovnanian A.

J Clin Immunol. 2020 Feb;40(2):418-420. doi: 10.1007/s10875-020-00751-4. Epub 2020 Jan 28. No abstract available.

PMID:
31993867
7.

Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation.

Sáez-de-Ocariz M, Suárez-Gutiérrez M, Migaud M, O Farrill-Romanillos P, Casanova JL, Segura-Mendez NH, Orozco-Covarrubias L, Espinosa-Padilla SE, Puel A, Blancas-Galicia L.

J Eur Acad Dermatol Venereol. 2020 Jan 28. doi: 10.1111/jdv.16241. [Epub ahead of print] No abstract available.

PMID:
31991004
8.

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.

Perez L, Messina F, Negroni R, Arechavala A, Bustamante J, Oleastro M, Migaud M, Casanova JL, Puel A, Santiso G.

J Clin Immunol. 2020 Feb;40(2):359-366. doi: 10.1007/s10875-019-00740-2. Epub 2020 Jan 15.

PMID:
31940125
9.

Large-scale genome mining allows identification of neutral polymorphisms and novel resistance mutations in genes involved in Candida albicans resistance to azoles and echinocandins.

Sitterlé E, Coste AT, Obadia T, Maufrais C, Chauvel M, Sertour N, Sanglard D, Puel A, D'Enfert C, Bougnoux ME.

J Antimicrob Chemother. 2020 Apr 1;75(4):835-848. doi: 10.1093/jac/dkz537.

PMID:
31923309
10.

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
11.

A 7-Year-Old Child With Headaches and Prolonged Fever Associated With Oral and Nail Lesions.

Martin S, Balligand E, Peeters J, Nassogne MC, Mondovits B, Loop M, de Selys A, Vanclaire J, Vermylen C, De Bruyckere JJ, Chatzis O, Puel A, Gilliaux O, Van Der Linden D.

Open Forum Infect Dis. 2019 Nov 3;6(11):ofz229. doi: 10.1093/ofid/ofz229. eCollection 2019 Nov.

12.

[Chronic mucocutaneous candidiasis with STAT1 gain-of-function mutation associated with herpes virus and mycobacterial infections].

Baghad B, Benhsaien I, El Fatoiki FZ, Migaud M, Puel A, Chiheb S, Bousfiha AA, Ailal F.

Ann Dermatol Venereol. 2020 Jan;147(1):41-45. doi: 10.1016/j.annder.2019.09.597. Epub 2019 Oct 31. French.

PMID:
31677808
13.

Evaluating the effectiveness of an educative workshop for pregnant women using pre and post intervention surveys.

Nunes RD, Puel AG, Gomes N, Traebert J.

Cad Saude Publica. 2019 Oct 14;35(10):e00155018. doi: 10.1590/0102-311X00155018. eCollection 2019.

14.

Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran.

Jamee M, Mahdaviani SA, Mansouri D, Azizi G, Joneidi N, Ghaffaripour H, Eskandarzade S, Ghaini M, Marjani M, Moniri A, Migaud M, Casanova J, Puel A, Velayati A.

Immunol Invest. 2020 Apr;49(3):299-306. doi: 10.1080/08820139.2019.1671451. Epub 2019 Oct 7.

PMID:
31588815
15.

Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy.

Kutukculer N, Puel A, Eren Akarcan S, Moriya K, Edeer Karaca N, Migaud M, Casanova JL, Aksu G.

Case Reports Immunol. 2019 Aug 4;2019:1902817. doi: 10.1155/2019/1902817. eCollection 2019.

16.

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.

17.

The nature of human IL-6.

Puel A, Casanova JL.

J Exp Med. 2019 Sep 2;216(9):1969-1971. doi: 10.1084/jem.20191002. Epub 2019 Jun 24.

18.

Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency.

Queiroz-Telles F, Mercier T, Maertens J, Sola CBS, Bonfim C, Lortholary O, Constantino-Silva RMN, Schrijvers R, Hagen F, Meis JF, Herkert PF, Breda GL, França JB, Filho NAR, Lanternier F, Casanova JL, Puel A, Grumach AS.

J Clin Immunol. 2019 Jul;39(5):462-469. doi: 10.1007/s10875-019-00662-z. Epub 2019 Jun 20.

PMID:
31222666
19.

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.

Zhang SY, Jouanguy E, Zhang Q, Abel L, Puel A, Casanova JL.

Curr Opin Immunol. 2019 Aug;59:88-100. doi: 10.1016/j.coi.2019.03.008. Epub 2019 May 20. Review.

PMID:
31121434
20.

Immunotherapy of triple-negative breast cancer with cathepsin D-targeting antibodies.

Ashraf Y, Mansouri H, Laurent-Matha V, Alcaraz LB, Roger P, Guiu S, Derocq D, Robin G, Michaud HA, Delpech H, Jarlier M, Pugnière M, Robert B, Puel A, Martin L, Landomiel F, Bourquard T, Achour O, Fruitier-Arnaudin I, Pichard A, Deshayes E, Turtoi A, Poupon A, Simony-Lafontaine J, Boissière-Michot F, Pirot N, Bernex F, Jacot W, du Manoir S, Theillet C, Pouget JP, Navarro-Teulon I, Bonnefoy N, Pèlegrin A, Chardès T, Martineau P, Liaudet-Coopman E.

J Immunother Cancer. 2019 Feb 4;7(1):29. doi: 10.1186/s40425-019-0498-z.

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