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Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.
Sancho-Shimizu V, Pérez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL. Sancho-Shimizu V, et al. Among authors: rezaei n. J Clin Invest. 2011 Dec;121(12):4889-902. doi: 10.1172/JCI59259. Epub 2011 Nov 21. J Clin Invest. 2011. PMID: 22105173 Free PMC article.
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.
Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent QB, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A; Exome/Array Consortium; Alcais A, Boisson B, Casanova JL, Abel L. Belkadi A, et al. Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8. doi: 10.1073/pnas.1606460113. Epub 2016 May 31. Proc Natl Acad Sci U S A. 2016. PMID: 27247391 Free PMC article. Clinical Trial.
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia.
Abolhassani H, Vosughimotlagh A, Asano T, Landegren N, Boisson B, Delavari S, Bastard P, Aranda-Guillén M, Wang Y, Zuo F, Sardh F, Marcotte H, Du L, Zhang SY, Zhang Q, Rezaei N, Kämpe O, Casanova JL, Hammarström L, Pan-Hammarström Q. Abolhassani H, et al. Among authors: rezaei n. J Clin Immunol. 2022 Jan;42(1):1-9. doi: 10.1007/s10875-021-01151-y. Epub 2021 Oct 23. J Clin Immunol. 2022. PMID: 34686943 Free PMC article.
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. Béziat V, et al. Among authors: rezaei n. Sci Immunol. 2018 Jun 15;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956. Sci Immunol. 2018. PMID: 29907691 Free PMC article.
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.
Eslami N, Tavakol M, Mesdaghi M, Gharegozlou M, Casanova JL, Puel A, Okada S, Arshi S, Bemanian MH, Fallahpour M, Molatefi R, Seif F, Zoghi S, Rezaei N, Nabavi M. Eslami N, et al. Among authors: rezaei n. Acta Microbiol Immunol Hung. 2017 Jun 1;64(2):191-201. doi: 10.1556/030.64.2017.014. Epub 2017 Jun 9. Acta Microbiol Immunol Hung. 2017. PMID: 28597685 Free article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19.
Abolhassani H, Delavari S, Landegren N, Shokri S, Bastard P, Du L, Zuo F, Hajebi R, Abolnezhadian F, Iranparast S, Modaresi M, Vosughimotlagh A, Salami F, Aranda-Guillén M, Cobat A, Marcotte H, Zhang SY, Zhang Q, Rezaei N, Casanova JL, Kämpe O, Hammarström L, Pan-Hammarström Q. Abolhassani H, et al. Among authors: rezaei n. J Allergy Clin Immunol. 2022 Nov;150(5):1059-1073. doi: 10.1016/j.jaci.2022.09.005. Epub 2022 Sep 13. J Allergy Clin Immunol. 2022. PMID: 36113674 Free PMC article.
Tuberculosis: a new look at an old disease.
Rezaei N, Aghamohammadi A, Mansouri D, Parvaneh N, Casanova JL. Rezaei N, et al. Expert Rev Clin Immunol. 2011 Mar;7(2):129-31. doi: 10.1586/eci.11.1. Expert Rev Clin Immunol. 2011. PMID: 21426249 No abstract available.
1,586 results