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314 results

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Page 1
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Among authors: schreiber rd. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, Tufenkeji H, Frayha H, Al-Gazlan S, Al-Rayes H, Schreiber RD, Gresser I, Casanova JL. Dupuis S, et al. Among authors: schreiber rd. Nat Genet. 2003 Mar;33(3):388-91. doi: 10.1038/ng1097. Epub 2003 Feb 18. Nat Genet. 2003. PMID: 12590259
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de Beaucoudrey L, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rösen-Wolff A, Magdorf K, Roesler J, Casanova JL. Chapgier A, et al. Among authors: schreiber rd. PLoS Genet. 2006 Aug 18;2(8):e131. doi: 10.1371/journal.pgen.0020131. PLoS Genet. 2006. PMID: 16934001 Free PMC article.
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. Among authors: schreiber rd. Nat Genet. 1999 Apr;21(4):370-8. doi: 10.1038/7701. Nat Genet. 1999. PMID: 10192386
Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.
Döffinger R, Jouanguy E, Dupuis S, Fondanèche MC, Stephan JL, Emile JF, Lamhamedi-Cherradi S, Altare F, Pallier A, Barcenas-Morales G, Meinl E, Krause C, Pestka S, Schreiber RD, Novelli F, Casanova JL. Döffinger R, et al. Among authors: schreiber rd. J Infect Dis. 2000 Jan;181(1):379-84. doi: 10.1086/315197. J Infect Dis. 2000. PMID: 10608793
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
Altare F, Jouanguy E, Lamhamedi-Cherradi S, Fondanéche MC, Fizame C, Ribiérre F, Merlin G, Dembic Z, Schreiber R, Lisowska-Grospierre B, Fischer A, Seboun E, Casanova JL. Altare F, et al. Am J Hum Genet. 1998 Mar;62(3):723-6. doi: 10.1086/301750. Am J Hum Genet. 1998. PMID: 9497247 Free PMC article. No abstract available.
TREM2 deficiency reprograms intestinal macrophages and microbiota to enhance anti-PD-1 tumor immunotherapy.
Di Luccia B, Molgora M, Khantakova D, Jaeger N, Chang HW, Czepielewski RS, Helmink BA, Onufer EJ, Fachi JL, Bhattarai B, Trsan T, Rodrigues PF, Hou J, Bando JK, da Silva CS, Cella M, Gilfillan S, Schreiber RD, Gordon JI, Colonna M. Di Luccia B, et al. Among authors: schreiber rd. Sci Immunol. 2024 May 17;9(95):eadi5374. doi: 10.1126/sciimmunol.adi5374. Epub 2024 May 17. Sci Immunol. 2024. PMID: 38758808
314 results