Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 1382

1.

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
2.

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.

Parackova Z, Bloomfield M, Vrabcova P, Zentsova I, Klocperk A, Milota T, Svaton M, Casanova JL, Bustamante J, Fronkova E, Sediva A.

J Clin Immunol. 2019 Nov 23. doi: 10.1007/s10875-019-00720-6. [Epub ahead of print]

PMID:
31760574
3.

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

About F, Bibert S, Jouanguy E, Nalpas B, Lorenzo L, Rattina V, Zarhrate M, Hanein S, Munteanu M, Müllhaupt B, Semela D, Semmo N, Casanova JL, Theodorou I, Sultanik P, Poynard T, Pol S, Bochud PY, Cobat A, Abel L; Swiss Hepatitis C Cohort Study Group; French ANRS HC EP 26 Genoscan Study Group.

Front Genet. 2019 Nov 4;10:1024. doi: 10.3389/fgene.2019.01024. eCollection 2019.

4.

BCG Moreau Vaccine Safety Profile and NK Cells-Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency.

Bernatowska E, Skomska-Pawliszak M, Wolska-Kuśnierz B, Pac M, Heropolitanska-Pliszka E, Pietrucha B, Bernat-Sitarz K, Dąbrowska-Leonik N, Bohynikova N, Piątosa B, Lutyńska A, Augustynowicz E, Augustynowicz-Kopeć E, Korzeniewska-Koseła M, Krasińska M, Krzysztopa-Grzybowska K, Wieteska-Klimczak A, Książyk J, Jackowska T, van den Burg M, van Dongen JJM, Casanova JL, Picard C, Mikołuć B.

J Clin Immunol. 2019 Nov 20. doi: 10.1007/s10875-019-00709-1. [Epub ahead of print]

PMID:
31749033
5.

Lung Hernia Related with a Rope Bullfight: Case Report.

Lopes S, Costa R, Maciel J, Casanova J, Bastos PC, Pinho P.

Rev Port Cir Cardiotorac Vasc. 2019 Jul-Sep;26(3):219-222.

PMID:
31734975
6.

Contemporary Operative Results of Complete Atriventricular Septal Defects.

Casanova J.

Rev Port Cir Cardiotorac Vasc. 2019 Jul-Sep;26(3):177. No abstract available.

PMID:
31734964
7.

Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency.

Reeve L, Preece K, Markle J, Casanova JL, Walls T.

J Paediatr Child Health. 2019 Nov 13. doi: 10.1111/jpc.14690. [Epub ahead of print] No abstract available.

PMID:
31721334
8.

A New Patient with Inherited TYK2 Deficiency.

Sarrafzadeh SA, Mahloojirad M, Casanova JL, Badalzadeh M, Bustamante J, Boisson-Dupuis S, Pourpak Z, Nourizadeh M, Moin M.

J Clin Immunol. 2019 Nov 11. doi: 10.1007/s10875-019-00713-5. [Epub ahead of print] No abstract available.

PMID:
31713088
9.

Deferring stenting in primary angioplasty: A critical view based on available evidence.

Fernández-Rodríguez D, Rivera K, Casanova J.

Arch Cardiol Mex. 2019;89(1):187-188. doi: 10.24875/ACME.M19000047. No abstract available.

PMID:
31702742
10.

Composition and Intraspecific Chemical Variability of Leaf Essential Oil of Laggera pterodonta (DC.) Sch. Bip. ex Oliv. from Côte d'Ivoire.

Kambiré DA, Boti JB, Yapi TA, Ouattara ZA, Paoli M, Bighelli A, Tomi F, Casanova J.

Chem Biodivers. 2019 Oct 30. doi: 10.1002/cbdv.201900504. [Epub ahead of print]

PMID:
31664789
11.

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.

Rinne SJ, Sipilä LJ, Sulo P, Jouanguy E, Béziat V, Abel L, Casanova JL, Parvaneh N, Balighi K, Guttman-Yassky E, Sarid R, Aaltonen LA, Aavikko M.

Open Forum Infect Dis. 2019 Jul 17;6(10):ofz337. doi: 10.1093/ofid/ofz337. eCollection 2019 Oct.

12.

Editorial, Journal of Clinical Immunology.

Casanova JL, Bonagura V.

J Clin Immunol. 2019 Nov;39(8):751-752. doi: 10.1007/s10875-019-00699-0. No abstract available.

PMID:
31612360
13.

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
14.

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, Bossuyt X, Orth G, Bonagura VR, Béziat V, Abel L, Jouanguy E, Reversade B, Casanova JL.

Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19055-19063. doi: 10.1073/pnas.1906184116. Epub 2019 Sep 4.

PMID:
31484767
15.

Pulmonary Sequestration Supplied By The Circumflex Artery - A Rare Case Report.

Pissarra D, Salgueiro E, Oliveira AC, Malangatana G, Pinho P, Casanova J.

Rev Port Cir Cardiotorac Vasc. 2019 Apr-Jun;26(2):159-162.

PMID:
31476820
16.

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.

17.

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.

18.

Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature.

Hoyos-Bachiloglu R, Gallo S, Vizcaya C, Zuñiga P, Valbuena JR, Casanova JL, Bustamante J, Borzutzky A.

J Clin Immunol. 2019 Oct;39(7):743-746. doi: 10.1007/s10875-019-00678-5. Epub 2019 Aug 5. No abstract available.

PMID:
31385124
19.

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
20.

Treatment of Pathological Humerus-Shaft Tumoral Fractures with Rigid Static Interlocking Intramedullary Nail-22 Years of Experience.

Moura DL, Alves F, Fonseca R, Freitas J, Casanova J.

Rev Bras Ortop (Sao Paulo). 2019 Apr;54(2):149-155. doi: 10.1016/j.rbo.2017.10.012. Epub 2019 Mar 25.

21.

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
22.

Diferir la implantación de stents coronarios en la angioplastia primaria: una visión crítica basada en la evidencia disponible.

Fernández-Rodríguez D, Rivera K, Casanova J.

Arch Cardiol Mex. 2019;89(2):201-202. doi: 10.24875/ACM.19000095. No abstract available.

PMID:
31314017
23.

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E, Shirkani A, Changi-Ashtiani M, Rokni-Zadeh H, Sayar EH, Reisli I, Lefevre-Utile A, Zijlmans D, Jurado A, Pholien R, Drutman S, Belkaya S, Cobat A, Boudewijns R, Jochmans D, Neyts J, Seeleuthner Y, Lorenzo-Diaz L, Enemchukwu C, Tietjen I, Hoffmann HH, Momenilandi M, Pöyhönen L, Siqueira MM, de Lima SMB, de Souza Matos DC, Homma A, Maia MLS, da Costa Barros TA, de Oliveira PMN, Mesquita EC, Gijsbers R, Zhang SY, Seligman SJ, Abel L, Hertzog P, Marr N, Martins RM, Meyts I, Zhang Q, MacDonald MR, Rice CM, Casanova JL, Jouanguy E, Bossuyt X.

J Exp Med. 2019 Sep 2;216(9):2057-2070. doi: 10.1084/jem.20182295. Epub 2019 Jul 3.

PMID:
31270247
24.

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
25.

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
26.

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.

27.

Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, Dobbs K, Hernandez N, Goudin N, Hasek ML, García Reino EJ, Lafaille FG, Lorenzo L, Luthra P, Kochetkov T, Bigio B, Boucherit S, Rozenberg F, Vedrinne C, Keller MD, Itan Y, García-Sastre A, Celard M, Orange JS, Ciancanelli MJ, Meyts I, Zhang Q, Abel L, Notarangelo LD, Snoeck HW, Casanova JL, Zhang SY.

J Exp Med. 2019 Sep 2;216(9):2038-2056. doi: 10.1084/jem.20181621. Epub 2019 Jun 19.

PMID:
31217193
28.

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Belkaya S, Michailidis E, Korol CB, Kabbani M, Cobat A, Bastard P, Lee YS, Hernandez N, Drutman S, de Jong YP, Vivier E, Bruneau J, Béziat V, Boisson B, Lorenzo-Diaz L, Boucherit S, Sebagh M, Jacquemin E, Emile JF, Abel L, Rice CM, Jouanguy E, Casanova JL.

J Exp Med. 2019 Aug 5;216(8):1777-1790. doi: 10.1084/jem.20190669. Epub 2019 Jun 18.

PMID:
31213488
29.

Ion Gresser.

Casanova JL.

J Interferon Cytokine Res. 2019 Jun;39(6):317-320. doi: 10.1089/jir.2018.29015.mem. No abstract available.

PMID:
31194619
30.

Correction to: Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L, Bustamante J, Casanova JL, Jouanguy E, Zhang Q.

J Clin Immunol. 2019 Jul;39(5):527. doi: 10.1007/s10875-019-00653-0.

PMID:
31175480
31.

Randomization of Pulse Phases for Unambiguous and Robust Quantum Sensing.

Wang ZY, Lang JE, Schmitt S, Lang J, Casanova J, McGuinness L, Monteiro TS, Jelezko F, Plenio MB.

Phys Rev Lett. 2019 May 24;122(20):200403. doi: 10.1103/PhysRevLett.122.200403.

PMID:
31172750
32.

Body composition, strength static and isokinetic, and bone health: comparative study between active adults and amateur soccer players.

Tavares ÓM, Duarte JP, Werneck AO, Costa DC, Sousa-E-Silva P, Martinho D, Luz LGO, Morouço P, Valente-Dos-Santos J, Soles-Gonçalves R, Conde J, Casanova JM, Coelho-E-Silva MJ.

Einstein (Sao Paulo). 2019 May 30;17(3):eAO4419. doi: 10.31744/einstein_journal/2019AO4419. English, Portuguese.

33.

Collective cell migration and metastases induced by an epithelial-to-mesenchymal transition in Drosophila intestinal tumors.

Campbell K, Rossi F, Adams J, Pitsidianaki I, Barriga FM, Garcia-Gerique L, Batlle E, Casanova J, Casali A.

Nat Commun. 2019 May 24;10(1):2311. doi: 10.1038/s41467-019-10269-y.

34.

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L, Bustamante J, Casanova JL, Jouanguy E, Zhang Q.

J Clin Immunol. 2019 May;39(4):376-390. doi: 10.1007/s10875-019-00642-3. Epub 2019 May 23. Review. Erratum in: J Clin Immunol. 2019 Jun 7;:.

PMID:
31123910
35.

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
36.

Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency.

Jindal AK, Suri D, Guleria S, Rawat A, Garg S, Bal A, Casanova JL, Bustamante J, Singh S.

J Clin Immunol. 2019 May;39(4):358-362. doi: 10.1007/s10875-019-00637-0. Epub 2019 May 17. No abstract available.

PMID:
31102036
37.

ARF GTPases and their GEFs and GAPs: concepts and challenges.

Sztul E, Chen PW, Casanova JE, Cherfils J, Dacks JB, Lambright DG, Lee FS, Randazzo PA, Santy LC, Schürmann A, Wilhelmi I, Yohe ME, Kahn RA.

Mol Biol Cell. 2019 May 15;30(11):1249-1271. doi: 10.1091/mbc.E18-12-0820.

38.

Long-term functional outcome and complications of male suburethral slings in the management of post-prostatectomy incontinence: A prospective five-year follow-up study.

Collado-Serra A, Domínguez-Escrig J, Ramírez-Backhaus M, Gómez-Ferrer Á, Casanova J, Rubio-Briones J.

Arch Esp Urol. 2019 May;72(4):381-388.

PMID:
31070134
39.

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.

40.

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

Zhang P, Boisson B, Stenson PD, Cooper DN, Casanova JL, Abel L, Itan Y.

Nucleic Acids Res. 2019 Jul 2;47(W1):W623-W631. doi: 10.1093/nar/gkz326.

41.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS.

JCI Insight. 2019 Apr 25;5. pii: 127527. doi: 10.1172/jci.insight.127527.

42.

Upregulation of E93 Gene Expression Acts as the Trigger for Metamorphosis Independently of the Threshold Size in the Beetle Tribolium castaneum.

Chafino S, Ureña E, Casanova J, Casacuberta E, Franch-Marro X, Martín D.

Cell Rep. 2019 Apr 23;27(4):1039-1049.e2. doi: 10.1016/j.celrep.2019.03.094.

43.

Modulated Continuous Wave Control for Energy-Efficient Electron-Nuclear Spin Coupling.

Casanova J, Torrontegui E, Plenio MB, García-Ripoll JJ, Solano E.

Phys Rev Lett. 2019 Jan 11;122(1):010407. doi: 10.1103/PhysRevLett.122.010407.

PMID:
31012690
44.

The trigger (and the restriction) of Torso RTK activation.

Mineo A, Furriols M, Casanova J.

Open Biol. 2018 Dec;8(12):180180. doi: 10.1098/rsob.180180. Review.

45.

[Pathological consequences of excess of interferon in vivo].

Lebon P, Crow YJ, Casanova JL, Gresser I.

Med Sci (Paris). 2019 Mar;35(3):232-235. doi: 10.1051/medsci/2019037. Epub 2019 Apr 1. Review. French.

PMID:
30931907
46.

Dimethyl Fumarate Disrupts Human Innate Immune Signaling by Targeting the IRAK4-MyD88 Complex.

Zaro BW, Vinogradova EV, Lazar DC, Blewett MM, Suciu RM, Takaya J, Studer S, de la Torre JC, Casanova JL, Cravatt BF, Teijaro JR.

J Immunol. 2019 May 1;202(9):2737-2746. doi: 10.4049/jimmunol.1801627. Epub 2019 Mar 18.

PMID:
30885957
47.

Non-redundant functions of FAK and Pyk2 in intestinal epithelial repair.

Thomas KS, Owen KA, Conger K, Llewellyn RA, Bouton AH, Casanova JE.

Sci Rep. 2019 Mar 14;9(1):4497. doi: 10.1038/s41598-019-41116-1.

48.

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.

Moens L, Gouwy M, Bosch B, Pastukhov O, Nieto-Patlàn A, Siler U, Bucciol G, Mekahli D, Vermeulen F, Desmet L, Maebe S, Flipts H, Corveleyn A, Moshous D, Philippet P, Tangye SG, Boisson B, Casanova JL, Florkin B, Struyf S, Reichenbach J, Bustamante J, Notarangelo LD, Meyts I.

J Clin Immunol. 2019 Apr;39(3):298-308. doi: 10.1007/s10875-019-00603-w. Epub 2019 Mar 5.

49.

Approach to recurrent Herpes Simplex Encephalitis in children.

Alsweed A, Alsuhibani M, Casanova JL, Al-Hajjar S.

Int J Pediatr Adolesc Med. 2018 Jun;5(2):35-38. doi: 10.1016/j.ijpam.2018.05.004. Epub 2018 Jun 12. Review.

50.

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J.

Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942.

PMID:
30778533

Supplemental Content

Loading ...
Support Center