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Items: 1 to 50 of 108

1.

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco.

Sabri A, Quistrebert J, Naji Amrani H, Abid A, Zegmout A, Abderrhamani Ghorfi I, Souhi H, Boucaid A, Benali A, Abilkassem R, Kmari M, Hassani A, Lahcen B, Siah S, Schurr E, Boisson-Dupuis S, Casanova JL, Lahlou A, Laatiris A, Louzi L, Ouarssani A, Bourazza A, Aouragh A, Mustapha B, Messaoudi N, Agader A, Cobat A, Abel L, El Baghdadi J.

PLoS One. 2019 Aug 15;14(8):e0221081. doi: 10.1371/journal.pone.0221081. eCollection 2019.

2.

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.

PMID:
31346092
3.

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanık-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J.

Hum Mol Genet. 2018 Nov 15;27(22):3919-3935. doi: 10.1093/hmg/ddy275. Erratum in: Hum Mol Genet. 2019 Feb 1;28(3):524.

PMID:
31222290
4.

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Kerner G, Ramirez-Alejo N, Seeleuthner Y, Yang R, Ogishi M, Cobat A, Patin E, Quintana-Murci L, Boisson-Dupuis S, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2019 May 21;116(21):10430-10434. doi: 10.1073/pnas.1903561116. Epub 2019 May 8.

PMID:
31068474
5.

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.

6.

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.

7.

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J.

Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. No abstract available.

8.

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, Okada S, Boisson-Dupuis S, Casanova JL, Bustamante J.

Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25. Review.

PMID:
30264912
9.

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Nekooie-Marnany N, Deswarte C, Ostadi V, Bagherpour B, Taleby E, Ganjalikhani-Hakemi M, Le Voyer T, Rahimi H, Rosain J, Pourmoghadas Z, Sheikhbahaei S, Khoshnevisan R, Petersheim D, Kotlarz D, Klein C, Boisson-Dupuis S, Casanova JL, Bustamante J, Sherkat R.

J Clin Immunol. 2018 Oct;38(7):787-793. doi: 10.1007/s10875-018-0548-1. Epub 2018 Sep 25.

PMID:
30255293
10.

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL.

J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.

11.

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL.

Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.

12.

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.

13.

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Glanzmann B, Möller M, Moncada-Velez M, Peter J, Urban M, van Helden PD, Hoal EG, de Villiers N, Glashoff RH, Nortje R, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S, Esser M, Kinnear CJ.

J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18. No abstract available.

14.

IRF4 haploinsufficiency in a family with Whipple's disease.

Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Béziat V, Della Mina E, Oleaga-Quintas C, Lazarov T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D, Abel L, Bustamante J, Casanova JL.

Elife. 2018 Mar 14;7. pii: e32340. doi: 10.7554/eLife.32340.

15.

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.

16.

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity.

Schimke LF, Hibbard J, Martinez-Barricarte R, Khan TA, de Souza Cavalcante R, Borges de Oliveira Junior E, Takahashi França T, Iqbal A, Yamamoto G, Arslanian C, Feriotti C, Costa TA, Bustamante J, Boisson-Dupuis S, Casanova JL, Marzagao Barbuto JA, Zatz M, Poncio Mendes R, Garcia Calich VL, Ochs HD, Torgerson TR, Cabral-Marques O, Condino-Neto A.

J Infect Dis. 2017 Dec 19;216(12):1623-1634. doi: 10.1093/infdis/jix522.

PMID:
29029192
17.

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.

Hatipoglu N, Güvenç BH, Deswarte C, Koksalan K, Boisson-Dupuis S, Casanova JL, Bustamante J.

Pediatrics. 2017 Nov;140(5). pii: e20161668. doi: 10.1542/peds.2016-1668. Epub 2017 Oct 12.

18.

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation.

Jabot-Hanin F, Cobat A, Feinberg J, Orlova M, Niay J, Deswarte C, Poirier C, Theodorou I, Bustamante J, Boisson-Dupuis S, Casanova JL, Alcaïs A, Hoal EG, Delacourt C, Schurr E, Abel L.

Sci Rep. 2017 Oct 9;7(1):12800. doi: 10.1038/s41598-017-13017-8.

19.

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression.

Louvain de Souza T, de Souza Campos Fernandes RC, Azevedo da Silva J, Gomes Alves Júnior V, Gomes Coelho A, Souza Faria AC, Moreira Salomão Simão NM, Souto Filho JT, Deswarte C, Boisson-Dupuis S, Torgerson D, Casanova JL, Bustamante J, Medina-Acosta E.

Front Microbiol. 2017 Apr 13;8:616. doi: 10.3389/fmicb.2017.00616. eCollection 2017.

20.

A novel kindred with inherited STAT2 deficiency and severe viral illness.

Moens L, Van Eyck L, Jochmans D, Mitera T, Frans G, Bossuyt X, Matthys P, Neyts J, Ciancanelli M, Zhang SY, Gijsbers R, Casanova JL, Boisson-Dupuis S, Meyts I, Liston A.

J Allergy Clin Immunol. 2017 Jun;139(6):1995-1997.e9. doi: 10.1016/j.jaci.2016.10.033. Epub 2017 Jan 10. No abstract available.

PMID:
28087227
21.

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.

22.

Utility of the QuantiFERON-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children.

El Azbaoui S, Sabri A, Ouraini S, Hassani A, Asermouh A, Agadr A, Abilkassem R, Dini N, Kmari M, Akhaddar A, Laktati Z, Aieche S, El Hafidi N, Ben Brahim F, Bousfiha AA, Ailal F, Deswarte C, Schurr E, Amar L, Bustamante J, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.

Int J Tuberc Lung Dis. 2016 Dec;20(12):1639-1646.

PMID:
27931340
23.

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.

24.

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.

Parvaneh N, Barlogis V, Alborzi A, Deswarte C, Boisson-Dupuis S, Migaud M, Farnaria C, Markle J, Parvaneh L, Casanova JL, Bustamante J.

Pediatr Blood Cancer. 2017 Jun;64(6). doi: 10.1002/pbc.26362. Epub 2016 Nov 22.

PMID:
27873456
25.

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.

Moens L, Schaballie H, Bosch B, Voet A, Bossuyt X, Casanova JL, Boisson-Dupuis S, Tangye SG, Meyts I.

J Clin Immunol. 2017 Jan;37(1):12-17. doi: 10.1007/s10875-016-0351-9. Epub 2016 Nov 14. No abstract available.

PMID:
27844301
26.

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.

27.

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

Martínez-Barricarte R, de Jong SJ, Markle J, de Paus R, Boisson-Dupuis S, Bustamante J, van de Vosse E, Fleckenstein B, Casanova JL.

Curr Protoc Immunol. 2016 Nov 1;115:7.21C.1-7.21C.12. doi: 10.1002/cpim.15.

PMID:
27801513
28.

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.

29.

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Conti F, Lugo-Reyes SO, Blancas Galicia L, He J, Aksu G, Borges de Oliveira E Jr, Deswarte C, Hubeau M, Karaca N, de Suremain M, Guérin A, Baba LA, Prando C, Guerrero GG, Emiroglu M, Öz FN, Yamazaki Nakashimada MA, Gonzalez Serrano E, Espinosa S, Barlan I, Pérez N, Regairaz L, Guidos Morales HE, Bezrodnik L, Di Giovanni D, Dbaibo G, Ailal F, Galicchio M, Oleastro M, Chemli J, Danielian S, Perez L, Ortega MC, Soto Lavin S, Hertecant J, Anal O, Kechout N, Al-Idrissi E, ElGhazali G, Bondarenko A, Chernyshova L, Ciznar P, Herbigneaux RM, Diabate A, Ndaga S, Konte B, Czarna A, Migaud M, Pedraza-Sánchez S, Zaidi MB, Vogt G, Blanche S, Benmustapha I, Mansouri D, Abel L, Boisson-Dupuis S, Mahlaoui N, Bousfiha AA, Picard C, Barbouche R, Al-Muhsen S, Espinosa-Rosales FJ, Kütükçüler N, Condino-Neto A, Casanova JL, Bustamante J.

J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3. doi: 10.1016/j.jaci.2015.11.041. Epub 2016 Feb 28.

PMID:
26936803
30.

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

Lee AJ, Moncada-Vélez M, Picard C, Llanora G, Huang CH, Abel L, Chan SM, Lee BW, Casanova JL, Bustamante J, Shek LP, Boisson-Dupuis S.

J Clin Immunol. 2016 Apr;36(3):335. doi: 10.1007/s10875-016-0238-9. No abstract available.

PMID:
26888281
31.

A genome-wide association study of pulmonary tuberculosis in Morocco.

Grant AV, Sabri A, Abid A, Abderrahmani Rhorfi I, Benkirane M, Souhi H, Naji Amrani H, Alaoui-Tahiri K, Gharbaoui Y, Lazrak F, Sentissi I, Manessouri M, Belkheiri S, Zaid S, Bouraqadi A, El Amraoui N, Hakam M, Belkadi A, Orlova M, Boland A, Deswarte C, Amar L, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, El Baghdadi J, Abel L.

Hum Genet. 2016 Mar;135(3):299-307. doi: 10.1007/s00439-016-1633-2. Epub 2016 Jan 14.

32.

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

Lee AJ, Moncada-Vélez M, Picard C, Llanora G, Huang CH, Abel L, Chan SM, Lee BW, Casanova JL, Bustamante J, Shek LP, Boisson-Dupuis S.

J Clin Immunol. 2016 Jan;36(1):12-5. doi: 10.1007/s10875-015-0223-8. Epub 2015 Dec 21. No abstract available. Erratum in: J Clin Immunol. 2016 Apr;36(3):335.

33.

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.

Jabot-Hanin F, Cobat A, Feinberg J, Grange G, Remus N, Poirier C, Boland-Auge A, Besse C, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, Alcaïs A, Hoal EG, Delacourt C, Abel L.

J Infect Dis. 2016 Apr 1;213(7):1173-9. doi: 10.1093/infdis/jiv757. Epub 2015 Dec 21.

34.

Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway.

El Azbaoui S, Alaoui Mrani N, Sabri A, Jouhadi Z, Ailal F, Bousfiha AA, Najib J, El Hafidi N, Deswarte C, Schurr E, Bustamante J, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.

Int J Tuberc Lung Dis. 2015 Dec;19(12):1455-62. doi: 10.5588/ijtld.15.0290.

35.

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.

36.

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

Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S.

J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24.

37.

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.

Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, İkincioğullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2015 Oct;136(4):993-1006.e1. doi: 10.1016/j.jaci.2015.05.036. Epub 2015 Jul 7.

38.

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL.

Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9.

39.

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function.

Wilson RP, Ives ML, Rao G, Lau A, Payne K, Kobayashi M, Arkwright PD, Peake J, Wong M, Adelstein S, Smart JM, French MA, Fulcher DA, Picard C, Bustamante J, Boisson-Dupuis S, Gray P, Stepensky P, Warnatz K, Freeman AF, Rossjohn J, McCluskey J, Holland SM, Casanova JL, Uzel G, Ma CS, Tangye SG, Deenick EK.

J Exp Med. 2015 Jun 1;212(6):855-64. doi: 10.1084/jem.20141992. Epub 2015 May 4.

40.

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

Boisson-Dupuis S, Bustamante J, El-Baghdadi J, Camcioglu Y, Parvaneh N, El Azbaoui S, Agader A, Hassani A, El Hafidi N, Mrani NA, Jouhadi Z, Ailal F, Najib J, Reisli I, Zamani A, Yosunkaya S, Gulle-Girit S, Yildiran A, Cipe FE, Torun SH, Metin A, Atikan BY, Hatipoglu N, Aydogmus C, Kilic SS, Dogu F, Karaca N, Aksu G, Kutukculer N, Keser-Emiroglu M, Somer A, Tanir G, Aytekin C, Adimi P, Mahdaviani SA, Mamishi S, Bousfiha A, Sanal O, Mansouri D, Casanova JL, Abel L.

Immunol Rev. 2015 Mar;264(1):103-20. doi: 10.1111/imr.12272. Review.

41.

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency.

Zahid MF, Ali SA, Jehan F, Billo AG, Casanova JL, Bustamante J, Boisson-Dupuis S, Mir F.

J immunodefic Disord. 2014 Jun 4;3. pii: 1000109.

42.

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL.

Semin Immunol. 2014 Dec;26(6):454-70. doi: 10.1016/j.smim.2014.09.008. Epub 2014 Oct 26. Review.

43.

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S.

Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12.

44.

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.

Taramasso L, Boisson-Dupuis S, Garrè ML, Bondi E, Cama A, Nozza P, Morana G, Casanova JL, Marazzi MG.

J Clin Immunol. 2014 Nov;34(8):922-7. doi: 10.1007/s10875-014-0098-0. Epub 2014 Sep 14. Review.

PMID:
25216720
45.

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.

Cobat A, Poirier C, Hoal E, Boland-Auge A, de La Rocque F, Corrard F, Grange G, Migaud M, Bustamante J, Boisson-Dupuis S, Casanova JL, Schurr E, Alcaïs A, Delacourt C, Abel L.

J Infect Dis. 2015 Jan 15;211(2):317-21. doi: 10.1093/infdis/jiu446. Epub 2014 Aug 20.

46.

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.

Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, Assous MV, Abuzaitoun O, Kong XF, Pedergnana V, Deswarte C, Migaud M, Rose-John S, Itan Y, Boisson B, Belkadi A, Conti F, Abel L, Vogt G, Boisson-Dupuis S, Casanova JL, Bustamante J.

J Clin Immunol. 2014 Nov;34(8):904-9. doi: 10.1007/s10875-014-0085-5. Epub 2014 Aug 19.

47.

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

Itan Y, Mazel M, Mazel B, Abhyankar A, Nitschke P, Quintana-Murci L, Boisson-Dupuis S, Boisson B, Abel L, Zhang SY, Casanova JL.

BMC Genomics. 2014 Apr 3;15:256. doi: 10.1186/1471-2164-15-256.

48.

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.

Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.

J Infect Dis. 2014 Aug 15;210(4):611-8. doi: 10.1093/infdis/jiu140. Epub 2014 Mar 8.

49.

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M.

J Leukoc Biol. 2014 Apr;95(4):667-76. doi: 10.1189/jlb.0513250. Epub 2013 Dec 16.

50.

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

Deenick EK, Avery DT, Chan A, Berglund LJ, Ives ML, Moens L, Stoddard JL, Bustamante J, Boisson-Dupuis S, Tsumura M, Kobayashi M, Arkwright PD, Averbuch D, Engelhard D, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Klein C, Holland SM, Uzel G, Casanova JL, Ma CS, Tangye SG.

J Exp Med. 2013 Nov 18;210(12):2739-53. doi: 10.1084/jem.20130323. Epub 2013 Nov 11.

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