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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2008 1
2009 2
2010 4
2011 4
2012 6
2013 9
2014 7
2015 12
2016 19
2017 15
2018 14
2019 10
2020 12
2021 22
2022 19
2023 15
2024 9

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143 results

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Page 1
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.
[EBV and immunodeficiency].
Dieudonne Y, Martin M, Korganow AS, Boutboul D, Guffroy A. Dieudonne Y, et al. Among authors: boutboul d. Rev Med Interne. 2021 Dec;42(12):832-843. doi: 10.1016/j.revmed.2021.03.324. Epub 2021 Apr 16. Rev Med Interne. 2021. PMID: 33867195 Review. French.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO,… See abstract for full author list ➔ Maccari ME, et al. Among authors: boutboul d. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
[HHV-8 Related immunological and hematological diseases].
Blaison F, Galtier J, Parrens M, Viallard JF, Boutboul D. Blaison F, et al. Among authors: boutboul d. Rev Med Interne. 2022 May;43(5):301-311. doi: 10.1016/j.revmed.2021.10.004. Epub 2021 Dec 9. Rev Med Interne. 2022. PMID: 34895767 Review. French.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: boutboul d. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
Cutaneous manifestations of lymphoid-variant hypereosinophilic syndrome.
Laurent C, Lefèvre G, Kahn JE, Staumont-Salle D, Felten R, Puget M, Moulinet T, Machelart I, Launay D, Charvet E, Bouaziz JD, Jachiet M, Espitia A, Mahr A, Le Clech C, Malphettes M, Morice C, Mourah S, Moins-Teisserenc H, Lifermann F, Soulier-Guérin K, Villate A, Baillou C, Grados A, Robbins A, Abisror N, Bagot M, Boutboul D, Panel K, Vignon-Pennamen MD, Rivet J, Battistella M, Groh M, de Masson A; CEREO network. Laurent C, et al. Among authors: boutboul d. Br J Dermatol. 2022 Dec;187(6):1011-1013. doi: 10.1111/bjd.21782. Epub 2022 Aug 12. Br J Dermatol. 2022. PMID: 35862277 Free PMC article.
Inborn errors of immunity underlying defective T-cell memory.
Boutboul D, Picard C, Latour S. Boutboul D, et al. Curr Opin Allergy Clin Immunol. 2023 Dec 1;23(6):491-499. doi: 10.1097/ACI.0000000000000946. Epub 2023 Oct 5. Curr Opin Allergy Clin Immunol. 2023. PMID: 37797193 Review.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: boutboul d. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
143 results