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Items: 1 to 50 of 605

1.

Controlled donation after circulatory death up to 80 years for liver transplantation: Pushing the limit again.

Gastaca M, Ruiz P, Bustamante J, Valdivieso A.

Am J Transplant. 2019 Sep 17. doi: 10.1111/ajt.15600. [Epub ahead of print]

PMID:
31531946
2.

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.

3.

Liquid biopsy for lung cancers: an update on recent developments.

Revelo AE, Martin A, Velasquez R, Kulandaisamy PC, Bustamante J, Keshishyan S, Otterson G.

Ann Transl Med. 2019 Aug;7(15):349. doi: 10.21037/atm.2019.03.28. Review.

4.

Motivational factors modulate left frontoparietal network during cognitive control in cocaine addiction.

Barrós-Loscertales A, Costumero V, Rosell-Negre P, Fuentes-Claramonte P, Llopis-Llacer JJ, Bustamante JC.

Addict Biol. 2019 Aug 22:e12820. doi: 10.1111/adb.12820. [Epub ahead of print]

PMID:
31436010
5.

Age-Dependent Translocation of Gold Nanoparticles across the Air-Blood Barrier.

Tsuda A, Donaghey TC, Konduru NV, Pyrgiotakis G, Van Winkle LS, Zhang Z, Edwards P, Bustamante JM, Brain JD, Demokritou P.

ACS Nano. 2019 Aug 16. doi: 10.1021/acsnano.9b03019. [Epub ahead of print]

PMID:
31397554
6.

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
7.

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
8.

Development and evaluation of anisotropic and nonlinear aortic models made from clinical images for in vitro experimentation.

Bernal M, Saldarriaga J, Cabeza C, Negreira C, Bustamante J, Brum J.

Phys Med Biol. 2019 Aug 14;64(16):165006. doi: 10.1088/1361-6560/ab2db5.

PMID:
31252426
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, 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
10.

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
11.

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
12.

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
13.

A novel sequencing-based vaginal health assay combining self-sampling, HPV detection and genotyping, STI detection, and vaginal microbiome analysis.

Bik EM, Bird SW, Bustamante JP, Leon LE, Nieto PA, Addae K, Alegría-Mera V, Bravo C, Bravo D, Cardenas JP, Carson GA, Caughey A, Covarrubias PC, Pérez-Donoso J, Gass G, Gupta SL, Harman K, Hongo DMB, Jiménez JC, Kraal L, Melis-Arcos F, Morales EH, Morton A, Navas CF, Nuñez H, Olivares E, Órdenes-Aenishanslins N, Ossandon FJ, Phan R, Pino R, Soto-Liebe K, Varas I, Vera-Wolf P, Walton NA, Almonacid DE, Goddard AD, Ugalde JA, Zneimer S, Richman J, Apte ZS.

PLoS One. 2019 May 1;14(5):e0215945. doi: 10.1371/journal.pone.0215945. eCollection 2019.

14.

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.

15.

Electroanatomical mapping based on discrimination of electrograms clusters for localization of critical sites in atrial fibrillation.

Orozco-Duque A, Tobón C, Ugarte JP, Morillo C, Bustamante J.

Prog Biophys Mol Biol. 2019 Jan;141:37-46. doi: 10.1016/j.pbiomolbio.2018.07.003. Epub 2018 Jul 6.

PMID:
30905342
16.

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.

17.

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15.

PMID:
30776527
18.

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
19.

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
20.

Changes in motor function and brain cortex mitochondrial active oxygen species production in aged mice.

Lores-Arnaiz S, Lombardi P, Karadayian AG, Cutrera R, Bustamante J.

Exp Gerontol. 2019 Apr;118:88-98. doi: 10.1016/j.exger.2019.01.012. Epub 2019 Jan 15.

PMID:
30658119
21.

Trypanosoma cruzi 13C-labeled O-Glycan standards for mass spectrometry.

Sheikh MO, Gas-Pascual E, Glushka JN, Bustamante JM, Wells L, West CM.

Glycobiology. 2019 Apr 1;29(4):280-284. doi: 10.1093/glycob/cwy111.

PMID:
30649355
22.

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

Mahlaoui N, Picard C, Bach P, Costes L, Courteille V, Ranohavimparany A, Alcaïs A, Jais JP, Fischer A; CEREDIH French PID study group.

J Allergy Clin Immunol. 2019 Apr;143(4):1646-1649.e10. doi: 10.1016/j.jaci.2018.12.994. Epub 2019 Jan 9. No abstract available.

PMID:
30639347
23.

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
24.

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.

25.

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.

26.

VarQ: A Tool for the Structural and Functional Analysis of Human Protein Variants.

Radusky L, Modenutti C, Delgado J, Bustamante JP, Vishnopolska S, Kiel C, Serrano L, Marti M, Turjanski A.

Front Genet. 2018 Dec 6;9:620. doi: 10.3389/fgene.2018.00620. eCollection 2018.

27.

How much for a broken heart? Costs of cardiovascular disease in Colombia using a person-based approach.

Camacho S, Maldonado N, Bustamante J, Llorente B, Cueto E, Cardona F, Arango C.

PLoS One. 2018 Dec 19;13(12):e0208513. doi: 10.1371/journal.pone.0208513. eCollection 2018.

28.

Correction to: The Neural Substrate of Reward Anticipation in Health: A Meta-Analysis of fMRI Findings in the Monetary Incentive Delay Task.

Wilson RP, Colizzi M, Bossong MG, Allen P, Kempton M; MTAC, Bhattacharyya S.

Neuropsychol Rev. 2018 Dec;28(4):507-508. doi: 10.1007/s11065-018-9390-8.

PMID:
30552551
29.

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.

30.

Dysregulated gene expression predicts tumor aggressiveness in African-American prostate cancer patients.

Ali HEA, Lung PY, Sholl AB, Gad SA, Bustamante JJ, Ali HI, Rhim JS, Deep G, Zhang J, Abd Elmageed ZY.

Sci Rep. 2018 Nov 5;8(1):16335. doi: 10.1038/s41598-018-34637-8.

31.

Alcohol hangover effects on brain cortex non-synaptic mitochondria and synaptosomes bioenergetics.

Karadayian AG, Lombardi P, Bustamante J, Lores-Arnaiz S.

Alcohol. 2019 Jun;77:113-123. doi: 10.1016/j.alcohol.2018.10.010. Epub 2018 Oct 29.

PMID:
30385200
32.

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.

Charbit-Henrion F, Bègue B, Sierra A, Hanein S, Stolzenberg MC, Li Z, Pellegrini S, Garcelon N, Jeanpierre M, Neven B, Loge I, Picard C, Rosain J, Bustamante J, Le Lorc'h M, Pigneur B, Fernandes A; GENIUS Group, Rieux-Laucat F, Amil Dias J, Ruemmele FM, Cerf-Bensussan N.

PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018.

33.

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.

34.

Spatial congruence between multiple stressors in the Mediterranean Sea may reduce its resilience to climate impacts.

Ramírez F, Coll M, Navarro J, Bustamante J, Green AJ.

Sci Rep. 2018 Oct 5;8(1):14871. doi: 10.1038/s41598-018-33237-w.

35.

Morphological differences in lower facial third soft tissues in children with and without gingival smile: A cross-sectional comparative study.

Zapata-Noreña O, Barbosa-Lis DM, Bernal LV, Tamayo LC, Bustamante J.

J Investig Clin Dent. 2018 Nov;9(4):e12364. doi: 10.1111/jicd.12364. Epub 2018 Oct 1.

PMID:
30270536
36.

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
37.

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
38.

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.

39.

The Neural Substrate of Reward Anticipation in Health: A Meta-Analysis of fMRI Findings in the Monetary Incentive Delay Task.

Wilson RP, Colizzi M, Bossong MG, Allen P, Kempton M; MTAC, Bhattacharyya S.

Neuropsychol Rev. 2018 Dec;28(4):496-506. doi: 10.1007/s11065-018-9385-5. Epub 2018 Sep 25. Review. Erratum in: Neuropsychol Rev. 2018 Dec 14;:.

40.

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
41.

Generalized Jacobi-Weierstrass operators and Jacobi expansions.

Adell JA, Bustamante J, Merino JJ, Quesada JM.

J Inequal Appl. 2018;2018(1):153. doi: 10.1186/s13660-018-1747-2. Epub 2018 Jun 28.

42.

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.

43.

[Child hospital admissions associated with influenza virus infection in 6 Spanish cities (2014-2016)].

Arístegui Fernández J, González Pérez-Yarza E, Mellado Peña MJ, Rodrigo Gonzalo de Liria C, Hernández Sampelayo T, García García JJ, Ruiz Contreras J, Moreno Pérez D, Garrote Llanos E, Ramos Amador JT, Cilla Eguiluz CG, Méndez Hernández M; en representación del grupo de estudio HOSPIGRIP; Autores del grupo de estudio HOSPIGRIP.

An Pediatr (Barc). 2019 Feb;90(2):86-93. doi: 10.1016/j.anpedi.2018.06.012. Epub 2018 Jul 25. Spanish.

44.

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
45.

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.

46.

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.

47.

Direct-acting antivirals are effective and safe in HCV/HIV-coinfected liver transplant recipients who experience recurrence of hepatitis C: A prospective nationwide cohort study.

Manzardo C, Londoño MC, Castells L, Testillano M, Luis Montero J, Peñafiel J, Subirana M, Moreno A, Aguilera V, Luisa González-Diéguez M, Calvo-Pulido J, Xiol X, Salcedo M, Cuervas-Mons V, Manuel Sousa J, Suarez F, Serrano T, Ignacio Herrero J, Jiménez M, Fernandez JR, Giménez C, Del Campo S, Esteban-Mur JI, Crespo G, Moreno A, de la Rosa G, Rimola A, Miro JM; FIPSE LT-HIV investigators.

Am J Transplant. 2018 Oct;18(10):2513-2522. doi: 10.1111/ajt.14996. Epub 2018 Aug 13. Erratum in: Am J Transplant. 2019 Feb;19(2):614.

48.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL.

Sci Immunol. 2018 Jun 15;3(24). pii: eaat4956. doi: 10.1126/sciimmunol.aat4956.

49.

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.

Sologuren I, Martínez-Saavedra MT, Solé-Violán J, de Borges de Oliveira E Jr, Betancor E, Casas I, Oleaga-Quintas C, Martínez-Gallo M, Zhang SY, Pestano J, Colobran R, Herrera-Ramos E, Pérez C, López-Rodríguez M, Ruiz-Hernández JJ, Franco N, Ferrer JM, Bilbao C, Andújar-Sánchez M, Álvarez Fernández M, Ciancanelli MJ, Rodríguez de Castro F, Casanova JL, Bustamante J, Rodríguez-Gallego C.

J Clin Immunol. 2018 May;38(4):513-526. doi: 10.1007/s10875-018-0512-0. Epub 2018 Jun 7.

50.

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.

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