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Items: 1 to 50 of 709

1.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
2.

The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation.

Moriya K, Kadowaki S, Nakano T, Akarcan SE, Kutukculer N, Aksu G, Sasahara Y, Kure S, Ohnishi H, Casanova JL, Puel A, Fukao T.

J Clin Immunol. 2020 Mar 17. doi: 10.1007/s10875-020-00770-1. [Epub ahead of print] No abstract available.

PMID:
32185578
3.

Inherited human IFNγ deficiency underlies mycobacterial disease.

Kerner G, Rosain J, Guérin A, AlKhabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Al Ali F, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia DST, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Beziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J.

J Clin Invest. 2020 Mar 12. pii: 135460. doi: 10.1172/JCI135460. [Epub ahead of print]

4.

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection.

Oksenhendler E, Spaan AN, Neven B, Stolzenberg MC, Fusaro M, Casanova JL, Rieux-Laucat F, Boisson B, Magérus A.

J Clin Immunol. 2020 Mar 6. doi: 10.1007/s10875-020-00765-y. [Epub ahead of print] No abstract available.

PMID:
32144537
5.

PAX1 is essential for development and function of the human thymus.

Yamazaki Y, Urrutia R, Franco LM, Giliani S, Zhang K, Alazami AM, Dobbs AK, Masneri S, Joshi A, Otaizo-Carrasquero F, Myers TG, Ganesan S, Bondioni MP, Ho ML, Marks C, Alajlan H, Mohammed RW, Zou F, Valencia CA, Filipovich AH, Facchetti F, Boisson B, Azzari C, Al-Saud BK, Al-Mousa H, Casanova JL, Abraham RS, Notarangelo LD.

Sci Immunol. 2020 Feb 28;5(44). pii: eaax1036. doi: 10.1126/sciimmunol.aax1036.

PMID:
32111619
6.

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway.

Haake K, Neehus AL, Buchegger T, Kühnel MP, Blank P, Philipp F, Oleaga-Quintas C, Schulz A, Grimley M, Goethe R, Jonigk D, Kalinke U, Boisson-Dupuis S, Casanova JL, Bustamante J, Lachmann N.

Cells. 2020 Feb 19;9(2). pii: E483. doi: 10.3390/cells9020483.

7.

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.

Gruber C, Martin-Fernandez M, Ailal F, Qiu X, Taft J, Altman J, Rosain J, Buta S, Bousfiha A, Casanova JL, Bustamante J, Bogunovic D.

J Exp Med. 2020 May 4;217(5). pii: e20192319. doi: 10.1084/jem.20192319.

PMID:
32092142
8.

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE.

J Clin Immunol. 2020 Jan;40(1):65. doi: 10.1007/s10875-020-00763-0.

PMID:
32086639
9.

Effectiveness and safety of ruxolitinib for the treatment of refractory systemic idiopathic juvenile arthritis like associated with interstitial lung disease : a case report.

Bader-Meunier B, Hadchouel A, Berteloot L, Polivka L, Béziat V, Casanova JL, Lévy R.

Ann Rheum Dis. 2020 Feb 13. pii: annrheumdis-2020-216983. doi: 10.1136/annrheumdis-2020-216983. [Epub ahead of print] No abstract available.

PMID:
32054604
10.

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG.

J Clin Immunol. 2020 Jan;40(1):66-81. doi: 10.1007/s10875-020-00758-x. Epub 2020 Feb 11.

11.

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

Blancas-Galicia L, Santos-Chávez E, Deswarte C, Mignac Q, Medina-Vera I, León-Lara X, Roynard M, Scheffler-Mendoza SC, Rioja-Valencia R, Alvirde-Ayala A, Lugo Reyes SO, Staines-Boone T, García-Campos J, Saucedo-Ramírez OJ, Del-Río Navarro BE, Zamora-Chávez A, López-Larios A, García-Pavón-Osorio S, Melgoza-Arcos E, Canseco-Raymundo MR, Mogica-Martínez D, Venancio-Hernández M, Pacheco-Rosas D, Pedraza-Sánchez S, Guevara-Cruz M, Saracho-Weber F, Gámez-González B, Wakida-Kuzunoki G, Morán-Mendoza AR, Macías-Robles AP, Ramírez-Rivera R, Vargas-Camaño E, Zarate-Hernández C, Gómez-Tello H, Ramírez-Sánchez E, Ruíz-Hernández F, Ramos-López D, Acuña-Martínez H, García-Cruz ML, Román-Jiménez MG, González-Villarreal MG, Álvarez-Cardona A, Llamas-Guillén BA, Cuellar-Rodríguez J, Olaya-Vargas A, Ramírez-Uribe N, Boisson-Dupuis S, Casanova JL, Espinosa-Rosales FJ, Serafín-López J, Yamazaki-Nakashimada M, Espinosa-Padilla S, Bustamante J.

J Clin Immunol. 2020 Feb 10. doi: 10.1007/s10875-020-00750-5. [Epub ahead of print]

PMID:
32040803
12.

Human inborn errors of immunity to herpes viruses.

Jouanguy E, Béziat V, Mogensen TH, Casanova JL, Tangye SG, Zhang SY.

Curr Opin Immunol. 2020 Feb;62:106-122. doi: 10.1016/j.coi.2020.01.004. Epub 2020 Jan 31. Review.

PMID:
32014647
13.

Human BCL10 Deficiency due to Homozygosity for a Rare Allele.

Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, Perez de Diego R.

J Clin Immunol. 2020 Feb;40(2):388-398. doi: 10.1007/s10875-020-00760-3. Epub 2020 Feb 1.

PMID:
32008135
14.

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.

Drutman SB, Mansouri D, Mahdaviani SA, Neehus AL, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B, Fisch R, Rahman M, Khan T, Al Ali F, Marjani M, Mansouri N, Lorenzo-Diaz L, Emile JF, Marr N, Jouanguy E, Bustamante J, Abel L, Boisson-Dupuis S, Béziat V, Nathan C, Casanova JL.

N Engl J Med. 2020 Jan 30;382(5):437-445. doi: 10.1056/NEJMoa1910640.

PMID:
31995689
15.

Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome.

Lévy R, Béziat V, Barbieux C, Puel A, Bourrat E, Casanova JL, Hovnanian A.

J Clin Immunol. 2020 Feb;40(2):418-420. doi: 10.1007/s10875-020-00751-4. Epub 2020 Jan 28. No abstract available.

PMID:
31993867
16.

Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation.

Sáez-de-Ocariz M, Suárez-Gutiérrez M, Migaud M, O Farrill-Romanillos P, Casanova JL, Segura-Mendez NH, Orozco-Covarrubias L, Espinosa-Padilla SE, Puel A, Blancas-Galicia L.

J Eur Acad Dermatol Venereol. 2020 Jan 28. doi: 10.1111/jdv.16241. [Epub ahead of print] No abstract available.

PMID:
31991004
17.

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE.

J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17. Erratum in: J Clin Immunol. 2020 Feb 22;:.

18.

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.

Alsohime F, Martin-Fernandez M, Temsah MH, Alabdulhafid M, Le Voyer T, Alghamdi M, Qiu X, Alotaibi N, Alkahtani A, Buta S, Jouanguy E, Al-Eyadhy A, Gruber C, Hasan GM, Bashiri FA, Halwani R, Hassan HH, Al-Muhsen S, Alkhamis N, Alsum Z, Casanova JL, Bustamante J, Bogunovic D, Alangari AA.

N Engl J Med. 2020 Jan 16;382(3):256-265. doi: 10.1056/NEJMoa1905633.

PMID:
31940699
19.

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.

Perez L, Messina F, Negroni R, Arechavala A, Bustamante J, Oleastro M, Migaud M, Casanova JL, Puel A, Santiso G.

J Clin Immunol. 2020 Feb;40(2):359-366. doi: 10.1007/s10875-019-00740-2. Epub 2020 Jan 15.

PMID:
31940125
20.

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.

Lagresle-Peyrou C, Olichon A, Sadek H, Roche P, Tardy C, Da Silva C, Garrigue A, Fischer A, Moshous D, Collette Y, Picard C, Casanova JL, André I, Cavazzana M.

Haematologica. 2020 Jan 9. pii: haematol.2019.230250. doi: 10.3324/haematol.2019.230250. [Epub ahead of print]

21.

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.

Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, Itan Y, Ewaleifoh O, Rapaport F, Carlile TM, Carter-Timofte ME, Paquet D, Dobbs K, Zimmer B, Gao D, Rojas-Duran MF, Kwart D, Rattina V, Ciancanelli MJ, McAlpine JL, Lorenzo L, Boucherit S, Rozenberg F, Halwani R, Henry B, Amenzoui N, Alsum Z, Marques L, Church JA, Al-Muhsen S, Tardieu M, Bousfiha AA, Paludan SR, Mogensen TH, Quintana-Murci L, Tessier-Lavigne M, Smith GA, Notarangelo LD, Studer L, Gilbert W, Abel L, Casanova JL, Zhang SY.

Nat Med. 2019 Dec;25(12):1873-1884. doi: 10.1038/s41591-019-0672-3. Epub 2019 Dec 5.

PMID:
31806906
22.

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. Erratum in: Sci Immunol. 2020 Jan 3;5(43):.

PMID:
31784499
23.

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. 2020 Jan;40(1):165-178. doi: 10.1007/s10875-019-00720-6. Epub 2019 Nov 23.

PMID:
31760574
24.

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.

25.

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. 2020 Jan;40(1):138-146. doi: 10.1007/s10875-019-00709-1. Epub 2019 Nov 20.

26.

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
27.

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. 2020 Jan;40(1):232-235. doi: 10.1007/s10875-019-00713-5. Epub 2019 Nov 11. No abstract available.

PMID:
31713088
28.

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.

29.

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
30.

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. 2020 Apr;49(3):299-306. doi: 10.1080/08820139.2019.1671451. Epub 2019 Oct 7.

PMID:
31588815
31.

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.

32.

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.

33.

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.

34.

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
35.

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
36.

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.

37.

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.

38.

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.

39.

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
40.

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.

41.

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.

42.

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.

43.

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
44.

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
45.

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
46.

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
47.

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
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Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

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Proc Natl Acad Sci U S A. 2019 May 21;116(21):10430-10434. doi: 10.1073/pnas.1903561116. Epub 2019 May 8.

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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.

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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.

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