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Infections in IFNGR-1-deficient children.
Jouanguy E, Altare F, Lamhamedi-Cherradi S, Casanova JL. Jouanguy E, et al. J Interferon Cytokine Res. 1997 Oct;17(10):583-7. doi: 10.1089/jir.1997.17.583. J Interferon Cytokine Res. 1997. PMID: 9355958 Review.
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
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. 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.
46 results