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Items: 1 to 50 of 58

1.

Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease.

López-Hernández I, Deswarte C, Alcantara-Ortigoza MÁ, Saez-de-Ocariz MDM, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Bustamante J, Blancas-Galicia L.

Iran J Allergy Asthma Immunol. 2019 Aug 17;18(4):447-451. doi: 10.18502/ijaai.v18i4.1425.

2.

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.

Rosain J, Deswarte C, Hancioglu G, Oleaga-Quintas C, Kutlug S, Kartal I, Kuzu I, Toullec L, Tusseau M, Casanova JL, Yildiran A, Bustamante J.

J Clin Immunol. 2019 Oct;39(7):739-742. doi: 10.1007/s10875-019-00667-8. Epub 2019 Aug 3. No abstract available.

PMID:
31377971
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.

4.

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

Shabani M, Aleyasin S, Kashef S, Zoghi S, Deswarte C, Casanova JL, Bustamante J, Rezaei N.

J Clin Immunol. 2019 Feb;39(2):127-130. doi: 10.1007/s10875-019-00595-7. Epub 2019 Feb 5. No abstract available.

PMID:
30719685
5.

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Sarrafzadeh SA, Nourizadeh M, Mahloojirad M, Fazlollahi MR, Shokouhi Shoormasti R, Badalzadeh M, Deswarte C, Casanova JL, Pourpak Z, Bustamante J, Moin M.

J Clin Immunol. 2019 Apr;39(3):287-297. doi: 10.1007/s10875-019-0593-4. Epub 2019 Feb 4.

PMID:
30715640
6.

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.

Humblet-Baron S, Franckaert D, Dooley J, Ailal F, Bousfiha A, Deswarte C, Oleaga-Quintas C, Casanova JL, Bustamante J, Liston A.

J Allergy Clin Immunol. 2019 Jun;143(6):2215-2226.e7. doi: 10.1016/j.jaci.2018.10.068. Epub 2018 Dec 19.

PMID:
30578871
7.

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.

8.

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.

9.

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.

10.

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.

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. Review.

13.

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J.

J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6.

14.

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

Alodayani AN, Al-Otaibi AM, Deswarte C, Frayha HH, Bouaziz M, AlHelale M, Le Voyer T, Nieto-Patlan A, Rattina V, AlZahrani M, Halwani R, Al Sohime F, Al-Mousa H, Al-Muhsen S, Alhajjar SH, Dhayhi NS, Abel L, Casanova JL, Bin-Hussain I, AlBarrak MS, Al-Jumaah SA, Bustamante J.

J Clin Immunol. 2018 Apr;38(3):278-282. doi: 10.1007/s10875-018-0490-2. Epub 2018 Mar 27.

15.

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.

16.

Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2.

Dominguez-Pinilla N, Allende LM, Rosain J, Gallego MDC, Chaves F, Deswarte C, Viedma E, de Inocencio Arocena J, Ruiz-Contreras J, Bustamante J, Gonzalez-Granado LI.

J Allergy Clin Immunol Pract. 2018 Sep - Oct;6(5):1796-1798.e2. doi: 10.1016/j.jaip.2018.02.014. Epub 2018 Mar 1. No abstract available.

PMID:
29486251
17.

Homeobox protein TLX3 activates miR-125b expression to promote T-cell acute lymphoblastic leukemia.

Renou L, Boelle PY, Deswarte C, Spicuglia S, Benyoucef A, Calvo J, Uzan B, Belhocine M, Cieslak A, Landman-Parker J, Baruchel A, Asnafi V, Pflumio F, Ballerini P, Naguibneva I.

Blood Adv. 2017 May 4;1(12):733-747. doi: 10.1182/bloodadvances.2017005538. eCollection 2017 May 9.

18.

[Disseminated infection by M. tuberculosis complex in patient with IFN-γ receptor 1 complete deficiency].

Martínez-Morales MC, Deswarte C, Castañeda-Casimiro J, Bustamante J, Blancas-Galicia L, Scheffler-Mendoza S.

Rev Alerg Mex. 2017 Oct-Dec;64(4):499-504. Spanish.

PMID:
29249112
19.

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.

20.

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.

21.

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature.

Staines-Boone AT, Deswarte C, Venegas Montoya E, Sánchez-Sánchez LM, García Campos JA, Muñiz-Ronquillo T, Bustamante J, Espinosa-Rosales FJ, Lugo Reyes SO.

Front Pediatr. 2017 May 3;5:75. doi: 10.3389/fped.2017.00075. eCollection 2017.

22.

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.

23.

Early postoperative neuropathic pain assessed by the DN4 score predicts an increased risk of persistent postsurgical neuropathic pain.

Beloeil H, Sion B, Rousseau C, Albaladejo P, Raux M, Aubrun F, Martinez V; SFAR research network.

Eur J Anaesthesiol. 2017 Oct;34(10):652-657. doi: 10.1097/EJA.0000000000000634.

PMID:
28437260
24.

IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.

Kadayifci EK, Karaaslan A, Atici S, Akkoç G, Bariş S, Yakut N, Demir SÖ, KÖksalan OK, Soysal A, Deswarte C, Bustamante J, Casanova JL, Bakir M.

Asian Pac J Allergy Immunol. 2017 Sep;35(3):161-165. doi: 10.12932/AP0790.

25.

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
26.

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
27.

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.

28.

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

Cabanillas D, Regairaz L, Deswarte C, García M, Richard ME, Casanova JL, Bustamante J, Perez L.

J Clin Immunol. 2016 Oct;36(7):627-30. doi: 10.1007/s10875-016-0322-1. Epub 2016 Aug 4. No abstract available.

PMID:
27492259
29.

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation.

Ne K, G A, E U, C C, C OQ, A NP, Me R, C D, Jl C, J B, N K.

J Investig Allergol Clin Immunol. 2016;26(4):268-271. doi: 10.18176/jiaci.0068. No abstract available.

30.

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.

El Hawary R, Meshaal S, Deswarte C, Galal N, Abdelkawy M, Alkady R, Elaziz DA, Freiberger T, Ravcukova B, Litzman J, Bustamante J, Boutros J, Gaafar T, Elmarsafy A.

J Clin Immunol. 2016 Aug;36(6):610-8. doi: 10.1007/s10875-016-0297-y. Epub 2016 May 24.

PMID:
27222152
31.

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
32.

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.

33.

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

Göktürk B, Reisli İ, Çalışkan Ü, Oleaga-Quintas C, Deswarte C, Turul-Özgür T, Burgucu D, Migaud M, Casanova JL, Picard C, Bustamante J.

Turk J Pediatr. 2016;58(3):331-336.

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.

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.

36.

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.

Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O.

Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14. Review. Erratum in: Pediatr Blood Cancer. 2016 Feb;63(2):377.

37.

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.

38.

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India.

Sharma VK, Pai G, Deswarte C, Lodha R, Singh S, Kang LW, Yin CC, Casanova JL, Bustamante J, Kabra SK.

J Clin Immunol. 2015 Jul;35(5):459-62. doi: 10.1007/s10875-015-0173-1. Epub 2015 Jun 9.

PMID:
26054576
39.

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency.

Conti F, Aragão Filho WC, Prando C, Deswarte C, Hubeau M, Newburger PE, Casanova JL, Bustamante J, Condino-Neto A.

J Allergy Clin Immunol. 2015 May;135(5):1393-5.e1. doi: 10.1016/j.jaci.2014.11.004. Epub 2014 Dec 24. No abstract available.

40.

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.

41.

Interleukin-18 produced by bone marrow-derived stromal cells supports T-cell acute leukaemia progression.

Uzan B, Poglio S, Gerby B, Wu CL, Gross J, Armstrong F, Calvo J, Cahu X, Deswarte C, Dumont F, Passaro D, Besnard-Guérin C, Leblanc T, Baruchel A, Landman-Parker J, Ballerini P, Baud V, Ghysdael J, Baleydier F, Porteu F, Pflumio F.

EMBO Mol Med. 2014 Jun;6(6):821-34. doi: 10.1002/emmm.201303286. Epub 2014 Apr 6.

42.

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.

43.

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.

Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.

J Clin Immunol. 2014 May;34(4):452-8. doi: 10.1007/s10875-014-9997-3. Epub 2014 Mar 5.

PMID:
24596025
44.

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.

Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P.

Oncogene. 2015 Jan 29;34(5):631-8. doi: 10.1038/onc.2013.587. Epub 2014 Jan 27.

PMID:
24469042
45.

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.

Bluteau D, Balduini A, Balayn N, Currao M, Nurden P, Deswarte C, Leverger G, Noris P, Perrotta S, Solary E, Vainchenker W, Debili N, Favier R, Raslova H.

J Clin Invest. 2014 Feb;124(2):580-91. doi: 10.1172/JCI71861. Epub 2014 Jan 16.

46.

Studies in Health Technology and Informatics. Interdisciplinary assessment of personal health monitoring. Foreword.

Zilgalvis P, Deswarte C.

Stud Health Technol Inform. 2013;187:v-vii. No abstract available.

PMID:
23920471
47.

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

Antony-Debré I, Bluteau D, Itzykson R, Baccini V, Renneville A, Boehlen F, Morabito M, Droin N, Deswarte C, Chang Y, Leverger G, Solary E, Vainchenker W, Favier R, Raslova H.

Blood. 2012 Sep 27;120(13):2719-22. Epub 2012 Jun 7.

PMID:
22677128
48.

RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation.

Ballerini P, Struski S, Cresson C, Prade N, Toujani S, Deswarte C, Dobbelstein S, Petit A, Lapillonne H, Gautier EF, Demur C, Lippert E, Pages P, Mansat-De Mas V, Donadieu J, Huguet F, Dastugue N, Broccardo C, Perot C, Delabesse E.

Leukemia. 2012 Nov;26(11):2384-9. doi: 10.1038/leu.2012.109. Epub 2012 Apr 19.

PMID:
22513837
49.

The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism.

Jeanson-Leh L, Charrier S, Proust A, Bilhou-Nabéra C, Favier R, Deswarte C, Bordigoni P, Galy A, Delaunay J.

Eur J Haematol. 2011 Oct;87(4):366-71. doi: 10.1111/j.1600-0609.2011.01674.x. Epub 2011 Aug 11.

PMID:
21711396
50.

Expression of CD34 and CD7 on human T-cell acute lymphoblastic leukemia discriminates functionally heterogeneous cell populations.

Gerby B, Clappier E, Armstrong F, Deswarte C, Calvo J, Poglio S, Soulier J, Boissel N, Leblanc T, Baruchel A, Landman-Parker J, Roméo PH, Ballerini P, Pflumio F.

Leukemia. 2011 Aug;25(8):1249-58. doi: 10.1038/leu.2011.93. Epub 2011 May 13.

PMID:
21566655

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