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Items: 1 to 50 of 177

1.

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.

2.

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 1. doi: 10.1007/s10875-020-00760-3. [Epub ahead of print]

PMID:
32008135
3.

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 Jan 28. doi: 10.1007/s10875-020-00751-4. [Epub ahead of print] No abstract available.

PMID:
31993867
4.

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]

PMID:
31991004
5.

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 Jan 15. doi: 10.1007/s10875-019-00740-2. [Epub ahead of print]

PMID:
31940125
6.

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 Jan 10. pii: dkz537. doi: 10.1093/jac/dkz537. [Epub ahead of print]

PMID:
31923309
7.

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.

PMID:
31784499
8.

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.

9.

[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
10.

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.

11.

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. 2019 Oct 7:1-8. doi: 10.1080/08820139.2019.1671451. [Epub ahead of print]

PMID:
31588815
12.

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.

13.

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.

14.

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.

PMID:
31235508
15.

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
16.

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
17.

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.

18.

Dominant negative CARD11 mutations: Beyond atopy.

Béziat V, Jouanguy E, Puel A.

J Allergy Clin Immunol. 2019 Apr;143(4):1345-1347. doi: 10.1016/j.jaci.2018.12.1006. Epub 2019 Jan 17. No abstract available.

PMID:
30659853
19.

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau8714. doi: 10.1126/sciimmunol.aau8714.

20.

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau6759. doi: 10.1126/sciimmunol.aau6759.

21.

A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.

De Bruyne M, Hoste L, Bogaert DJ, Van den Bossche L, Tavernier SJ, Parthoens E, Migaud M, Konopnicki D, Yombi JC, Lambrecht BN, van Daele S, Alves de Medeiros AK, Brochez L, Beyaert R, De Baere E, Puel A, Casanova JL, Goffard JC, Savvides SN, Haerynck F, Staal J, Dullaers M.

Front Immunol. 2018 Oct 31;9:2366. doi: 10.3389/fimmu.2018.02366. eCollection 2018.

22.

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Hagl B, Spielberger BD, Thoene S, Bonnal S, Mertes C, Winter C, Nijman IJ, Verduin S, Eberherr AC, Puel A, Schindler D, Ruland J, Meitinger T, Gagneur J, Orange JS, van Gijn ME, Renner ED.

Sci Rep. 2018 Nov 13;8(1):16719. doi: 10.1038/s41598-018-34953-z.

23.

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T.

J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18.

24.

Arid5a makes the IL-17A/F-responsive pathway less arid.

Puel A, Casanova JL.

Sci Signal. 2018 Oct 9;11(551). pii: eaau8876. doi: 10.1126/scisignal.aau8876. Review.

PMID:
30301789
25.

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.

Arango-Franco CA, Moncada-Vélez M, Beltrán CP, Berrío I, Mogollón C, Restrepo A, Trujillo M, Osorio SD, Castro L, Gómez LV, Muñoz AM, Molina V, Del Río Cobaleda DY, Ruiz AC, Garcés C, Alzate JF, Cabarcas F, Orrego JC, Casanova JL, Bustamante J, Puel A, Arias AA, Franco JL.

J Clin Immunol. 2018 Oct;38(7):794-803. doi: 10.1007/s10875-018-0549-0. Epub 2018 Sep 28.

PMID:
30264381
26.

Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults.

Corvilain E, Casanova JL, Puel A.

J Clin Immunol. 2018 Aug;38(6):656-693. doi: 10.1007/s10875-018-0539-2. Epub 2018 Aug 22. Review.

27.

Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling.

De S, Karim F, Kiessu E, Cushing L, Lin LL, Ghandil P, Hoarau C, Casanova JL, Puel A, Rao VR.

J Biol Chem. 2018 Sep 28;293(39):15208-15220. doi: 10.1074/jbc.RA118.003831. Epub 2018 Aug 16.

28.

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. doi: 10.1007/s00335-018-9767-2. Epub 2018 Aug 9. Review.

29.

Lessons learned from the study of human inborn errors of innate immunity.

Bucciol G, Moens L, Bosch B, Bossuyt X, Casanova JL, Puel A, Meyts I.

J Allergy Clin Immunol. 2019 Feb;143(2):507-527. doi: 10.1016/j.jaci.2018.07.013. Epub 2018 Aug 1. Review.

30.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

31.

A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata.

Arousse A, Boussofara L, H'mida-Ben Brahim D, Migaud M, Aounallah A, Ghariani N, Casanova JL, Nouira R, Puel A, Denguezli M.

JAAD Case Rep. 2018 Jun 23;4(6):602-605. doi: 10.1016/j.jdcr.2018.03.004. eCollection 2018 Jul. No abstract available.

32.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J.

J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. Review.

33.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL.

Sci Immunol. 2018 Jun 15;3(24). pii: eaat4956. doi: 10.1126/sciimmunol.aat4956.

34.

ZNF341 controls STAT3 expression and thereby immunocompetence.

Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B.

Sci Immunol. 2018 Jun 15;3(24). pii: eaat4941. doi: 10.1126/sciimmunol.aat4941.

35.

Epithelial barrier dysfunction in desmoglein-1 deficiency.

Polivka L, Hadj-Rabia S, Bal E, Leclerc-Mercier S, Madrange M, Hamel Y, Bonnet D, Mallet S, Lepidi H, Ovaert C, Barbet P, Dupont C, Neven B, Munnich A, Godsel LM, Campeotto F, Weil R, Laplantine E, Marchetto S, Borg JP, Weis WI, Casanova JL, Puel A, Green KJ, Bodemer C, Smahi A.

J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27. No abstract available.

36.

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Gobin KS, Hintermeyer M, Boisson B, Chrabieh M, Ghandil P, Puel A, Picard C, Casanova JL, Routes J, Verbsky J.

Front Pediatr. 2018 Mar 2;6:42. doi: 10.3389/fped.2018.00042. eCollection 2018.

37.

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

Pedraza-Sánchez S, Lezana-Fernández JL, Gonzalez Y, Martínez-Robles L, Ventura-Ayala ML, Sadowinski-Pine S, Nava-Frías M, Moreno-Espinosa S, Casanova JL, Puel A, Boisson-Dupuis S, Torres M.

Front Immunol. 2017 Dec 6;8:1651. doi: 10.3389/fimmu.2017.01651. eCollection 2017.

38.

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.

Eren Akarcan S, Ulusoy Severcan E, Edeer Karaca N, Isik E, Aksu G, Migaud M, Evin Gurkan F, Azarsiz E, Puel A, Casanova JL, Kutukculer N.

Case Reports Immunol. 2017;2017:2846928. doi: 10.1155/2017/2846928. Epub 2017 Nov 13.

39.

Mucocutaneous IL-17 immunity in mice and humans: host defense vs. excessive inflammation.

Li J, Casanova JL, Puel A.

Mucosal Immunol. 2018 May;11(3):581-589. doi: 10.1038/mi.2017.97. Epub 2017 Nov 29. Review.

40.

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals.

Li J, Vinh DC, Casanova JL, Puel A.

Curr Opin Microbiol. 2017 Dec;40:46-57. doi: 10.1016/j.mib.2017.10.016. Epub 2017 Nov 10. Review.

41.

STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.

Hiller J, Hagl B, Effner R, Puel A, Schaller M, Mascher B, Eyerich S, Eyerich K, Jansson AF, Ring J, Casanova JL, Renner ED, Traidl-Hoffmann C.

J Invest Dermatol. 2018 Mar;138(3):711-714. doi: 10.1016/j.jid.2017.09.035. Epub 2017 Oct 18. No abstract available.

42.

A Specific Gut Microbiota Dysbiosis of Type 2 Diabetic Mice Induces GLP-1 Resistance through an Enteric NO-Dependent and Gut-Brain Axis Mechanism.

Grasset E, Puel A, Charpentier J, Collet X, Christensen JE, Tercé F, Burcelin R.

Cell Metab. 2017 Jul 5;26(1):278. doi: 10.1016/j.cmet.2017.06.003. No abstract available.

43.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

44.

Rosacea and demodicidosis associated with gain-of-function mutation in STAT1.

Second J, Korganow AS, Jannier S, Puel A, Lipsker D.

J Eur Acad Dermatol Venereol. 2017 Dec;31(12):e542-e544. doi: 10.1111/jdv.14413. Epub 2017 Jul 7. No abstract available.

PMID:
28622416
45.

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

Eslami N, Tavakol M, Mesdaghi M, Gharegozlou M, Casanova JL, Puel A, Okada S, Arshi S, Bemanian MH, Fallahpour M, Molatefi R, Seif F, Zoghi S, Rezaei N, Nabavi M.

Acta Microbiol Immunol Hung. 2017 Jun 1;64(2):191-201. doi: 10.1556/030.64.2017.014. Epub 2017 Jun 9.

PMID:
28597685
46.

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Boisson B, Puel A, Picard C, Casanova JL.

J Clin Immunol. 2017 Jul;37(5):397-412. doi: 10.1007/s10875-017-0400-z. Epub 2017 Jun 9. Review.

47.

Correction: Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.

Schickel JN, Glauzy S, Ng YS, Chamberlain N, Massad C, Isnardi I, Katz N, Uzel G, Holland SM, Picard C, Puel A, Casanova JL, Meffre E.

J Exp Med. 2017 Jul 3;214(7):2161. doi: 10.1084/jem.2016020105152017c. Epub 2017 May 18. No abstract available.

48.

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Gobin K, Hintermeyer M, Boisson B, Chrabieh M, Ghandil P, Puel A, Picard C, Casanova JL, Routes J, Verbsky J.

Front Pediatr. 2017 Apr 28;5:83. doi: 10.3389/fped.2017.00083. eCollection 2017. Erratum in: Front Pediatr. 2018 Mar 02;6:42.

49.

Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria.

Schickel JN, Glauzy S, Ng YS, Chamberlain N, Massad C, Isnardi I, Katz N, Uzel G, Holland SM, Picard C, Puel A, Casanova JL, Meffre E.

J Exp Med. 2017 Jul 3;214(7):1991-2003. doi: 10.1084/jem.20160201. Epub 2017 May 12. Erratum in: J Exp Med. 2017 May 18;:.

50.

A Specific Gut Microbiota Dysbiosis of Type 2 Diabetic Mice Induces GLP-1 Resistance through an Enteric NO-Dependent and Gut-Brain Axis Mechanism.

Grasset E, Puel A, Charpentier J, Collet X, Christensen JE, Tercé F, Burcelin R.

Cell Metab. 2017 May 2;25(5):1075-1090.e5. doi: 10.1016/j.cmet.2017.04.013. Erratum in: Cell Metab. 2017 Jul 5;26(1):278.

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