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Items: 1 to 50 of 154

1.

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
2.

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
3.

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.

PMID:
30136218
4.

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.

PMID:
30115681
5.

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.

PMID:
30094507
6.

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. 2018 Aug 1. pii: S0091-6749(18)31067-4. doi: 10.1016/j.jaci.2018.07.013. [Epub ahead of print]

PMID:
30075154
7.

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.

PMID:
30072435
8.

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.

9.

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 11. doi: 10.1007/s10875-018-0527-6. [Epub ahead of print]

PMID:
29995221
10.

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.

PMID:
29907691
11.

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.

PMID:
29907690
12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

PMID:
29186107
17.

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.

PMID:
29128761
18.

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.

PMID:
29054602
19.

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.

20.

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.

21.

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
22.

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
23.

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.

24.

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.

25.

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

Gobin K, Hintermeyer M, Boisson B, Chrabieh M, Gandil 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.

26.

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;:.

27.

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.

28.

Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.

Lim AI, Li Y, Lopez-Lastra S, Stadhouders R, Paul F, Casrouge A, Serafini N, Puel A, Bustamante J, Surace L, Masse-Ranson G, David E, Strick-Marchand H, Le Bourhis L, Cocchi R, Topazio D, Graziano P, Muscarella LA, Rogge L, Norel X, Sallenave JM, Allez M, Graf T, Hendriks RW, Casanova JL, Amit I, Yssel H, Di Santo JP.

Cell. 2017 Mar 9;168(6):1086-1100.e10. doi: 10.1016/j.cell.2017.02.021.

29.

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Israel L, Wang Y, Bulek K, Della Mina E, Zhang Z, Pedergnana V, Chrabieh M, Lemmens NA, Sancho-Shimizu V, Descatoire M, Lasseau T, Israelsson E, Lorenzo L, Yun L, Belkadi A, Moran A, Weisman LE, Vandenesch F, Batteux F, Weller S, Levin M, Herberg J, Abhyankar A, Prando C, Itan Y, van Wamel WJB, Picard C, Abel L, Chaussabel D, Li X, Beutler B, Arkwright PD, Casanova JL, Puel A.

Cell. 2017 Feb 23;168(5):789-800.e10. doi: 10.1016/j.cell.2017.01.039.

30.

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.

Okada S, Puel A, Casanova JL, Kobayashi M.

Clin Transl Immunology. 2016 Dec 2;5(12):e114. doi: 10.1038/cti.2016.71. eCollection 2016 Dec. Review.

31.

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

Della Mina E, Borghesi A, Zhou H, Bougarn S, Boughorbel S, Israel L, Meloni I, Chrabieh M, Ling Y, Itan Y, Renieri A, Mazzucchelli I, Basso S, Pavone P, Falsaperla R, Ciccone R, Cerbo RM, Stronati M, Picard C, Zuffardi O, Abel L, Chaussabel D, Marr N, Li X, Casanova JL, Puel A.

Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E514-E523. doi: 10.1073/pnas.1620139114. Epub 2017 Jan 9.

32.

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M.

J Allergy Clin Immunol. 2017 Jul;140(1):232-241. doi: 10.1016/j.jaci.2016.09.035. Epub 2016 Dec 20.

33.

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camcioglu Y, Celmeli F, Klein C, AlKhater SA, Casanova JL, Puel A.

Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073/pnas.1618300114. Epub 2016 Dec 7.

34.

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL.

J Exp Med. 2016 Oct 17;213(11):2413-2435. Epub 2016 Sep 19.

35.

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG.

J Exp Med. 2016 Jul 25;213(8):1589-608. doi: 10.1084/jem.20151467. Epub 2016 Jul 11.

36.

Triggering the adaptive immune system with commensal gut bacteria protects against insulin resistance and dysglycemia.

Pomié C, Blasco-Baque V, Klopp P, Nicolas S, Waget A, Loubières P, Azalbert V, Puel A, Lopez F, Dray C, Valet P, Lelouvier B, Servant F, Courtney M, Amar J, Burcelin R, Garidou L.

Mol Metab. 2016 Mar 28;5(6):392-403. doi: 10.1016/j.molmet.2016.03.004. eCollection 2016 Jun.

37.

New clinical phenotypes of fungal infections in special hosts.

Pilmis B, Puel A, Lortholary O, Lanternier F.

Clin Microbiol Infect. 2016 Aug;22(8):681-7. doi: 10.1016/j.cmi.2016.05.016. Epub 2016 May 26. Review.

38.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Jul;36(5):529-530. No abstract available.

39.

Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.

de Medeiros AK, Lodewick E, Bogaert DJ, Haerynck F, Van Daele S, Lambrecht B, Bosma S, Vanderdonckt L, Lortholary O, Migaud M, Casanova JL, Puel A, Lanternier F, Lambert J, Brochez L, Dullaers M.

J Clin Immunol. 2016 Jul;36(5):528. No abstract available.

PMID:
27116191
40.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group.

Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.

41.

[Genetic susceptibility to invasive fungal infections].

Guery R, Lanternier F, Lortholary O, Puel A.

Rev Prat. 2015 Dec;65(10):1322-3. French. No abstract available. Erratum in: Rev Prat. 2016 Jun;66(6):670.

PMID:
26979033
42.

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.

Alves de Medeiros AK, Lodewick E, Bogaert DJ, Haerynck F, Van Daele S, Lambrecht B, Bosma S, Vanderdonckt L, Lortholary O, Migaud M, Casanova JL, Puel A, Lanternier F, Lambert J, Brochez L, Dullaers M.

J Clin Immunol. 2016 Apr;36(3):204-9. doi: 10.1007/s10875-016-0255-8. Epub 2016 Mar 9. Erratum in: J Clin Immunol. 2016 Jul;36(5):528.

PMID:
26961233
43.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.

J Clin Immunol. 2016 Apr;36(3):220-34. doi: 10.1007/s10875-016-0252-y. Epub 2016 Mar 8. Erratum in: J Clin Immunol. 2016 Jul;36(5):529-30.

44.

Invasive Candidiasis.

Bosch B, Meyts I, Puel A.

N Engl J Med. 2016 Feb 25;374(8):794. doi: 10.1056/NEJMc1514201. No abstract available.

PMID:
26933867
45.

Severe Dermatophytosis and Acquired or Innate Immunodeficiency: A Review.

Rouzaud C, Hay R, Chosidow O, Dupin N, Puel A, Lortholary O, Lanternier F.

J Fungi (Basel). 2015 Dec 31;2(1). pii: E4. doi: 10.3390/jof2010004. Review.

46.

The human gene damage index as a gene-level approach to prioritizing exome variants.

Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20. doi: 10.1073/pnas.1518646112. Epub 2015 Oct 19.

47.

Novel STAT1 gain-of-function mutation and suppurative infections.

Giardino G, Somma D, Cirillo E, Ruggiero G, Terrazzano G, Rubino V, Ursini MV, Vairo D, Badolato R, Carsetti R, Leonardi A, Puel A, Pignata C.

Pediatr Allergy Immunol. 2016 Mar;27(2):220-3. doi: 10.1111/pai.12496. Epub 2015 Dec 15. No abstract available.

PMID:
26467763
48.

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

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