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Items: 1 to 50 of 1366

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.

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 Aug 5. doi: 10.1007/s10875-019-00678-5. [Epub ahead of print] No abstract available.

PMID:
31385124
3.

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 Aug 3. doi: 10.1007/s10875-019-00667-8. [Epub ahead of print] No abstract available.

PMID:
31377971
4.

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.

5.

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
6.

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
7.

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 Jul 3. pii: jem.20182295. doi: 10.1084/jem.20182295. [Epub ahead of print]

PMID:
31270247
8.

The nature of human IL-6.

Puel A, Casanova JL.

J Exp Med. 2019 Jun 24. pii: jem.20191002. doi: 10.1084/jem.20191002. [Epub ahead of print]

PMID:
31235508
9.

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
10.

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
11.

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 Jun 19. pii: jem.20181621. doi: 10.1084/jem.20181621. [Epub ahead of print]

PMID:
31217193
12.

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
13.

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
14.

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
15.

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
16.

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.

17.

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.

18.

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
19.

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 May 20;59:88-100. doi: 10.1016/j.coi.2019.03.008. [Epub ahead of print] Review.

PMID:
31121434
20.

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
21.

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.

PMID:
31084567
22.

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
23.

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
24.

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.

25.

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.

26.

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.

27.

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
28.

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.

29.

[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
30.

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
31.

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.

32.

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.

PMID:
30838481
33.

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.

34.

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
35.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW.

J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. No abstract available.

PMID:
30771411
36.

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
37.

An essential role for the Zn2+ transporter ZIP7 in B cell development.

Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S.

Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4.

PMID:
30718914
38.

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
39.

McCune-Albright syndrome and the shepherd crook deformity.

Freitas J, Costa F, Rovisco J, Casanova JM, Malcata A.

Joint Bone Spine. 2019 Jul;86(4):511. doi: 10.1016/j.jbspin.2019.01.010. Epub 2019 Jan 31. No abstract available.

PMID:
30711696
40.

Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency.

García-Gómez S, Chaparro R, Safa A, Van Den Rym A, Martinez-Barricarte R, Lorenzo L, Sánchez-Ramón S, Toledano V, Cubillos-Zapata C, López-Collazo E, Martín-Arranz MD, Martín-Arranz E, Vela M, Gonzalez-Navarro P, Pérez-Martínez A, Casanova JL, Recio MJ, Pérez de Diego R.

J Allergy Clin Immunol. 2019 May;143(5):1931-1934.e1. doi: 10.1016/j.jaci.2018.12.1000. Epub 2019 Jan 18. No abstract available.

PMID:
30660642
41.

Identification and Quantitative Determination of Resin Acids from Corsican Pinus pinaster Aiton Oleoresin Using 13 C-NMR Spectroscopy.

Ottavioli J, Paoli M, Casanova J, Tomi F, Bighelli A.

Chem Biodivers. 2019 Jan;16(1):e1800482. doi: 10.1002/cbdv.201800482. Epub 2019 Jan 11.

PMID:
30632681
42.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.

Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott EM, Stenson PD, Cunningham-Rundles C, Cooper DN, Gleeson JG, Fellay J, Quintana-Murci L, Casanova JL, Abel L, Boisson B, Itan Y.

Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):950-959. doi: 10.1073/pnas.1808403116. Epub 2018 Dec 27.

43.

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
44.

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.

45.

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.

46.

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

Zhang P, Bigio B, Rapaport F, Zhang SY, Casanova JL, Abel L, Boisson B, Itan Y.

Bioinformatics. 2018 Dec 15;34(24):4307-4309. doi: 10.1093/bioinformatics/bty536.

PMID:
30535305
47.

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.

Vahidnezhad H, Youssefian L, Saeidian AH, Mansoori B, Jazayeri A, Azizpour A, Hesari KK, Yousefi M, Zeinali S, Jouanguy E, Casanova JL, Uitto J.

J Invest Dermatol. 2019 May;139(5):1195-1198. doi: 10.1016/j.jid.2018.11.011. Epub 2018 Nov 29. No abstract available.

PMID:
30503243
48.

[The effect of anesthetic preconditioning with sevoflurane on intracellular signal-transduction pathways and apoptosis, in a lung autotransplant experimental model].

Garutti I, Gonzalez-Moraga F, Sanchez-Pedrosa G, Casanova J, Martin-Piñeiro B, Rancan L, Simón C, Vara E.

Rev Bras Anestesiol. 2019 Jan - Feb;69(1):48-57. doi: 10.1016/j.bjan.2018.07.002. Epub 2018 Nov 17. Portuguese.

49.

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.

50.

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.

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