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Items: 1 to 50 of 1327

1.

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 11. doi: 10.1002/cbdv.201800482. [Epub ahead of print]

PMID:
30632681
2.

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.

PMID:
30591557
3.

IFN-γ and CD25 drive distinct pathological 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. 2018 Dec 19. pii: S0091-6749(18)32773-8. doi: 10.1016/j.jaci.2018.10.068. [Epub ahead of print]

PMID:
30578871
4.

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.

PMID:
30578352
5.

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.

PMID:
30578351
6.

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
7.

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

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

J Invest Dermatol. 2018 Nov 29. pii: S0022-202X(18)32895-1. doi: 10.1016/j.jid.2018.11.011. [Epub ahead of print] No abstract available.

PMID:
30503243
8.

[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.

9.

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.

10.

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. 2018 Dec 18. pii: 124011. doi: 10.1172/JCI124011. [Epub ahead of print]

11.

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, Boisson B, Radigan L, Cobat A, Dinakar C, Ehlayel M, Ben-Omran T, Gelfand EW, Casanova JL, Cunningham-Rundles C.

J Clin Invest. 2018 Dec 3;128(12):5489-5504. doi: 10.1172/JCI99629. Epub 2018 Nov 5.

12.

Factors that determine the persistence and dropout of university students.

Casanova JR, Cervero A, Núñez JC, Almeida LS, Bernardo A.

Psicothema. 2018 Nov;30(4):408-414. doi: 10.7334/psicothema2018.155.

PMID:
30353842
13.

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. 2018 Oct 17. doi: 10.1093/hmg/ddy357. [Epub ahead of print] No abstract available.

PMID:
30329057
14.

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
15.

Human TANK-binding kinase 1 is required for early autophagy induction upon herpes simplex virus 1 infection.

Ahmad L, Mashbat B, Leung C, Brookes C, Hamad S, Krokowski S, Shenoy AR, Lorenzo L, Levin M, O'Hare P, Zhang SY, Casanova JL, Mostowy S, Sancho-Shimizu V.

J Allergy Clin Immunol. 2018 Oct 5. pii: S0091-6749(18)31364-2. doi: 10.1016/j.jaci.2018.09.013. [Epub ahead of print] No abstract available.

16.

Patterns of FIRST recurrence of stage IIIC1 endometrial cancer with no PARAAORTIC nodal assessment.

Aloisi A, Casanova JM, Tseng JH, Seader KA, Nguyen NT, Alektiar KM, Makker V, Chiang S, Soslow RA, Leitao MM Jr, Abu-Rustum NR.

Gynecol Oncol. 2018 Dec;151(3):395-400. doi: 10.1016/j.ygyno.2018.09.021. Epub 2018 Oct 2.

PMID:
30286945
17.

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. 2018 Sep 28. doi: 10.1111/imcb.12210. [Epub ahead of print] Review.

PMID:
30264912
18.

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
19.

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
20.

Late Retroperitoneal Hematoma with Abscess Formation Following Laparoscopic Staging of Endometrial Cancer.

Casanova J, Sicam RVG, Moreira-Barros J, Huang KG.

Gynecol Minim Invasive Ther. 2018 Jan-Mar;7(1):31-32. doi: 10.4103/GMIT.GMIT_3_17. Epub 2018 Feb 16.

21.

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A.

Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25.

PMID:
30254128
22.

Radical Prostatectomy after Vascular Targeted Photodynamic Therapy with Padeliporfin: Feasibility, and Early and Intermediate Results.

Pierrard V, Lebdai S, Kleinclauss F, Azzouzi AR, Terrier JE, Fortier E, Joniau S, Van Der Poel H, Salomon G, Casanova J, Medina-Lopez RA, Potiron E, Rigaud J, Vincendeau S, Rassweiler J, Villers A, Gaston R, Saussine C, Giai J, Gaillac B, Emberton M, Ruffion A.

J Urol. 2019 Feb;201(2):315-321. doi: 10.1016/j.juro.2018.08.084.

PMID:
30248343
23.

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins.

Carter-Timofte ME, Hansen AF, Mardahl M, Fribourg S, Rapaport F, Zhang SY, Casanova JL, Paludan SR, Christiansen M, Larsen CS, Mogensen TH.

Neurol Neuroimmunol Neuroinflamm. 2018 Sep 7;5(6):e500. doi: 10.1212/NXI.0000000000000500. eCollection 2018 Nov.

24.

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo.

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

J Clin Immunol. 2018 Aug;38(6):694-698. doi: 10.1007/s10875-018-0543-6. Epub 2018 Sep 5. No abstract available.

PMID:
30187308
25.

A 44 year old female with overwhelming sepsis.

Seligman SJ, Bolze A, Boisson B, Casanova JL.

Clin Infect Dis. 2018 Aug 27. doi: 10.1093/cid/ciy742. [Epub ahead of print] No abstract available.

PMID:
30165619
26.

Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection.

Zimmer B, Ewaleifoh O, Harschnitz O, Lee YS, Peneau C, McAlpine JL, Liu B, Tchieu J, Steinbeck JA, Lafaille F, Volpi S, Notarangelo LD, Casanova JL, Zhang SY, Smith GA, Studer L.

Proc Natl Acad Sci U S A. 2018 Sep 11;115(37):E8775-E8782. doi: 10.1073/pnas.1809853115. Epub 2018 Aug 28.

PMID:
30154162
27.

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.

PMID:
30143481
28.

Neoadjuvant Trabectedin plus Radiotherapy in High-Grade Sarcoma of the Leg: A Case Report.

Loureiro da Silva AJ, Carvalho C, Jacobetty M, Freitas J, Fonseca R, Tavares PF, Garcia H, Borrego M, Casanova JM.

Case Rep Oncol. 2018 Jul 18;11(2):499-504. doi: 10.1159/000490849. eCollection 2018 May-Aug.

29.

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
30.

Agreement between dual x-ray absorptiometers using pencil beam and fan beam: indicators of bone health and whole-body plus appendicular tissue composition in adult athletes.

Tavares Ó, Duarte JP, Costa DC, Sousa-E-Silva P, Martinho D, Lus LGO, Duarte-Mendes P, Valente-Dos-Santos J, Conde J, Casanova JM, Cyrino ES, Coelho-E-Silva MJ.

Rev Assoc Med Bras (1992). 2018 Apr;64(4):330-338. doi: 10.1590/1806-9282.64.04.330.

31.

The activity of discrete sets of neurons in the posterior insula correlates with the behavioral expression and extinction of conditioned fear.

Casanova JP, Aguilar-Rivera M, Rodríguez MLÁ, Coleman TP, Torrealba F.

J Neurophysiol. 2018 Oct 1;120(4):1906-1913. doi: 10.1152/jn.00318.2018. Epub 2018 Aug 22.

PMID:
30133379
32.

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.

PMID:
30127434
33.

Soft Quantum Control for Highly Selective Interactions among Joint Quantum Systems.

Haase JF, Wang ZY, Casanova J, Plenio MB.

Phys Rev Lett. 2018 Aug 3;121(5):050402. doi: 10.1103/PhysRevLett.121.050402.

PMID:
30118315
34.

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
35.

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.

Trotta L, Norberg A, Taskinen M, Béziat V, Degerman S, Wartiovaara-Kautto U, Välimaa H, Jahnukainen K, Casanova JL, Seppänen M, Saarela J, Koskenvuo M, Martelius T.

Orphanet J Rare Dis. 2018 Aug 17;13(1):139. doi: 10.1186/s13023-018-0864-9.

36.

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
37.

Glycocalyx Degradation after Pulmonary Transplantation Surgery.

Rancan L, Simón C, Sánchez Pedrosa G, Aymonnier K, Shahani PM, Casanova J, Muñoz C, Garutti I, Vara E.

Eur Surg Res. 2018;59(3-4):115-125. doi: 10.1159/000489492. Epub 2018 Aug 8.

PMID:
30089286
38.

Blimp-1 Mediates Tracheal Lumen Maturation in Drosophila melanogaster.

Öztürk-Çolak A, Stephan-Otto Attolini C, Casanova J, Araújo SJ.

Genetics. 2018 Oct;210(2):653-663. doi: 10.1534/genetics.118.301444. Epub 2018 Aug 6.

PMID:
30082278
39.

An Unusual Cause of Aborted Sudden Cardiac Death in a Middle-Aged Female Marathoner.

Quina-Rodrigues C, Vieira C, Gaspar A, Sousa P, Madureira A, Marques J, Pinho P, Casanova J.

Can J Cardiol. 2018 Sep;34(9):1233.e9-1233.e11. doi: 10.1016/j.cjca.2018.05.012. Epub 2018 Aug 2.

PMID:
30078692
40.

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
41.

A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma.

Gokturk B, Casanova JL, Picard C, Cagdas Ayvaz D, Erman B, Tezcan I, Ozdemir H, Ozel A, Reisli I.

J Investig Allergol Clin Immunol. 2018 Aug;28(4):271-273. doi: 10.18176/jiaci.0261. No abstract available.

42.

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
43.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL.

J Exp Med. 2018 Sep 3;215(9):2289-2310. doi: 10.1084/jem.20170308. Epub 2018 Aug 1.

PMID:
30068544
44.

Holes in the Plasma Membrane Mimic Torso-Like Perforin in Torso Tyrosine Kinase Receptor Activation in the Drosophila Embryo.

Mineo A, Fuentes E, Furriols M, Casanova J.

Genetics. 2018 Sep;210(1):257-262. doi: 10.1534/genetics.118.301397. Epub 2018 Jul 26.

PMID:
30049783
45.

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.

Esteve-Sole A, Sánchez-Dávila SP, Deyà-Martínez A, Freeman AF, Zelazny AM, Dekker JP, Khil PP, Holland SM, Noguera-Julian A, Bustamante J, Casanova JL, Juan M, Cordova W, Alsina L.

J Clin Immunol. 2018 Aug;38(6):712-716. doi: 10.1007/s10875-018-0535-6. Epub 2018 Jul 23.

PMID:
30039354
46.

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.

Youssefian L, Vahidnezhad H, Mahmoudi H, Saeidian AH, Daneshpazhooh M, Kamyab Hesari K, Zeinali S, de Jong SJ, Orth G, Blanchet-Bardon C, Jouanguy E, Casanova JL, Uitto J.

J Invest Dermatol. 2019 Jan;139(1):241-244. doi: 10.1016/j.jid.2018.07.010. Epub 2018 Jul 20. No abstract available.

PMID:
30036492
47.

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.

48.

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Requena D, Maffucci P, Bigio B, Shang L, Abhyankar A, Boisson B, Stenson PD, Cooper DN, Cunningham-Rundles C, Casanova JL, Abel L, Itan Y.

Front Immunol. 2018 Jun 27;9:1340. doi: 10.3389/fimmu.2018.01340. eCollection 2018.

49.

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
50.

Total and regional bone mineral and tissue composition in female adolescent athletes: comparison between volleyball players and swimmers.

Valente-Dos-Santos J, Tavares ÓM, Duarte JP, Sousa-E-Silva PM, Rama LM, Casanova JM, Fontes-Ribeiro CA, Marques EA, Courteix D, Ronque ERV, Cyrino ES, Conde J, Coelho-E-Silva MJ.

BMC Pediatr. 2018 Jul 3;18(1):212. doi: 10.1186/s12887-018-1182-z.

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