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Immunological conditions of children with BCG disseminated infection.
Casanova JL, Jouanguy E, Lamhamedi S, Blanche S, Fischer A. Casanova JL, et al. Among authors: jouanguy e. Lancet. 1995 Aug 26;346(8974):581. doi: 10.1016/s0140-6736(95)91421-8. Lancet. 1995. PMID: 7658805 No abstract available.
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. Drutman SB, et al. Among authors: jouanguy e. Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19055-19063. doi: 10.1073/pnas.1906184116. Epub 2019 Sep 4. Proc Natl Acad Sci U S A. 2019. PMID: 31484767 Free PMC article.
Human genetic basis of fulminant viral hepatitis.
Jouanguy E. Jouanguy E. Hum Genet. 2020 Jun;139(6-7):877-884. doi: 10.1007/s00439-020-02166-y. Epub 2020 Apr 13. Hum Genet. 2020. PMID: 32285199 Free PMC article. Review.
Dominant negative CARD11 mutations: Beyond atopy.
Béziat V, Jouanguy E, Puel A. Béziat V, et al. Among authors: jouanguy e. J Allergy Clin Immunol. 2019 Apr;143(4):1345-1347. doi: 10.1016/j.jaci.2018.12.1006. Epub 2019 Jan 17. J Allergy Clin Immunol. 2019. PMID: 30659853 No abstract available.
Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study.
Casanova JL, Blanche S, Emile JF, Jouanguy E, Lamhamedi S, Altare F, Stéphan JL, Bernaudin F, Bordigoni P, Turck D, Lachaux A, Albertini M, Bourrillon A, Dommergues JP, Pocidalo MA, Le Deist F, Gaillard JL, Griscelli C, Fischer A. Casanova JL, et al. Among authors: jouanguy e. Pediatrics. 1996 Oct;98(4 Pt 1):774-8. Pediatrics. 1996. PMID: 8885960
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL. Jouanguy E, et al. N Engl J Med. 1996 Dec 26;335(26):1956-61. doi: 10.1056/NEJM199612263352604. N Engl J Med. 1996. PMID: 8960475 No abstract available.
Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection.
Emile JF, Patey N, Altare F, Lamhamedi S, Jouanguy E, Boman F, Quillard J, Lecomte-Houcke M, Verola O, Mousnier JF, Dijoud F, Blanche S, Fischer A, Brousse N, Casanova JL. Emile JF, et al. Among authors: jouanguy e. J Pathol. 1997 Jan;181(1):25-30. doi: 10.1002/(SICI)1096-9896(199701)181:1<25::AID-PATH747>3.0.CO;2-Z. J Pathol. 1997. PMID: 9071999 Review.
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.
Bastard P, Manry J, Chen J, Rosain J, Seeleuthner Y, AbuZaitun O, Lorenzo L, Khan T, Hasek M, Hernandez N, Bigio B, Zhang P, Lévy R, Shrot S, Garcia Reino EJ, Lee YS, Boucherit S, Aubart M, Gijsbers R, Béziat V, Li Z, Pellegrini S, Meyts I, Rozenberg F, Marr N, Boisson B, Cobat A, Bustamante J, Zhang Q, Jouanguy E, Abel L, Somech R, Casanova JL, Zhang SY. Bastard P, et al. Among authors: jouanguy e. J Clin Invest. 2020 Sep 22:139980. doi: 10.1172/JCI139980. Online ahead of print. J Clin Invest. 2020. PMID: 32960813 Free article.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort, Tsang JS, Goldbach-Mansky R, Kisand K, Lionakis MS, Puel A, Zhang SY, Holland SM, Gorochov G, Jouanguy E, Rice CM, Cobat A, Notarangelo LD, Abel L, Su HC, Casanova JL. Bastard P, et al. Among authors: jouanguy e. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep 24. Science. 2020. PMID: 32972996
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondanèche MC, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL. Jouanguy E, et al. Nat Genet. 1999 Apr;21(4):370-8. doi: 10.1038/7701. Nat Genet. 1999. PMID: 10192386
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