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Page 1
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Oleaga-Quintas C, de Oliveira-Júnior EB, Rosain J, Rapaport F, Deswarte C, Guérin A, Sajjath SM, Zhou YJ, Marot S, Lozano C, Branco L, Fernández-Hidalgo N, Lew DB, Brunel AS, Thomas C, Launay E, Arias AA, Cuffel A, Monjo VC, Neehus AL, Marques L, Roynard M, Moncada-Vélez M, Gerçeker B, Colobran R, Vigué MG, Lopez-Herrera G, Berron-Ruiz L, Méndez NHS, O'Farrill Romanillos P, Le Voyer T, Puel A, Bellanné-Chantelot C, Ramirez KA, Lorenzo-Diaz L, Alejo NR, de Diego RP, Condino-Neto A, Mellouli F, Rodriguez-Gallego C, Witte T, Restrepo JF, Jobim M, Boisson-Dupuis S, Jeziorski E, Fieschi C, Vogt G, Donadieu J, Pasquet M, Vasconcelos J, Ardeniz FO, Martínez-Gallo M, Campos RA, Jobim LF, Martínez-Barricarte R, Liu K, Cobat A, Abel L, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Among authors: thomas c. J Clin Immunol. 2021 Apr;41(3):639-657. doi: 10.1007/s10875-020-00930-3. Epub 2021 Jan 8. J Clin Immunol. 2021. PMID: 33417088 Free PMC article.
Hematopoietic stem cell transplantation in patients with severe Langerhans cell histiocytosis and hematological dysfunction: experience of the French Langerhans Cell Study Group.
Akkari V, Donadieu J, Piguet C, Bordigoni P, Michel G, Blanche S, Casanova JL, Thomas C, Vilmer E, Fischer A, Bertrand Y; French Langerhans Cell Study Group. Akkari V, et al. Among authors: thomas c. Bone Marrow Transplant. 2003 Jun;31(12):1097-103. doi: 10.1038/sj.bmt.1704065. Bone Marrow Transplant. 2003. PMID: 12796789
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, Thumerelle C, Oksenhendler E, Boutboul D, Thomas C, Hoarau C, Lebranchu Y, Stephan JL, Cazorla C, Aladjidi N, Micheau M, Tron F, Baruchel A, Barlogis V, Palenzuela G, Mathey C, Dominique S, Body G, Munzer M, Fouyssac F, Jaussaud R, Bader-Meunier B, Mahlaoui N, Blanche S, Debré M, Le Bourgeois M, Gandemer V, Lambert N, Grandin V, Ndaga S, Jacques C, Harre C, Forveille M, Alyanakian MA, Durandy A, Bodemer C, Suarez F, Hermine O, Lortholary O, Casanova JL, Fischer A, Picard C. Chandesris MO, et al. Among authors: thomas c. Medicine (Baltimore). 2012 Jul;91(4):e1-e19. doi: 10.1097/MD.0b013e31825f95b9. Medicine (Baltimore). 2012. PMID: 22751495 Free PMC article.
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
Gathmann B, Mahlaoui N; CEREDIH; Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID; van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party. Gathmann B, et al. J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24582312
Invasive pneumococcal disease in children can reveal a primary immunodeficiency.
Gaschignard J, Levy C, Chrabieh M, Boisson B, Bost-Bru C, Dauger S, Dubos F, Durand P, Gaudelus J, Gendrel D, Gras Le Guen C, Grimprel E, Guyon G, Jeudy C, Jeziorski E, Leclerc F, Léger PL, Lesage F, Lorrot M, Pellier I, Pinquier D, de Pontual L, Sachs P, Thomas C, Tissières P, Valla FV, Desprez P, Frémeaux-Bacchi V, Varon E, Bossuyt X, Cohen R, Abel L, Casanova JL, Puel A, Picard C. Gaschignard J, et al. Among authors: thomas c. Clin Infect Dis. 2014 Jul 15;59(2):244-51. doi: 10.1093/cid/ciu274. Epub 2014 Apr 23. Clin Infect Dis. 2014. PMID: 24759830 Free PMC 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.
8,419 results