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Page 1
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.
Nguyen T, Lau A, Bier J, Cooke KC, Lenthall H, Ruiz-Diaz S, Avery DT, Brigden H, Zahra D, Sewell WA, Droney L, Okada S, Asano T, Abolhassani H, Chavoshzadeh Z, Abraham RS, Rajapakse N, Klee EW, Church JA, Williams A, Wong M, Burkhart C, Uzel G, Croucher DR, James DE, Ma CS, Brink R, Tangye SG, Deenick EK. Nguyen T, et al. Among authors: abolhassani h. J Exp Med. 2023 Jun 5;220(6):e20221020. doi: 10.1084/jem.20221020. Epub 2023 Mar 21. J Exp Med. 2023. PMID: 36943234 Free PMC article.
Spectrum of Phenotypes Associated with Mutations in LRBA.
Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, El-Rajab MA, Massaad M, Chou J, Aghamohammadi A, Geha RS, Hammarström L. Alkhairy OK, et al. Among authors: abolhassani h. J Clin Immunol. 2016 Jan;36(1):33-45. doi: 10.1007/s10875-015-0224-7. Epub 2015 Dec 28. J Clin Immunol. 2016. PMID: 26707784 Review.
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarström L, Tangye SG, Su HC, Pan-Hammarström Q. Abolhassani H, et al. J Exp Med. 2017 Jan;214(1):91-106. doi: 10.1084/jem.20160849. Epub 2016 Dec 23. J Exp Med. 2017. PMID: 28011864 Free PMC article.
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Among authors: abolhassani h. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL. Boisson-Dupuis S, et al. Among authors: abolhassani h. Sci Immunol. 2018 Dec 21;3(30):eaau8714. doi: 10.1126/sciimmunol.aau8714. Sci Immunol. 2018. PMID: 30578352 Free PMC article.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K. Ghosh S, et al. Among authors: abolhassani h. Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738. Blood. 2020. PMID: 32603431 Free PMC article. Clinical Trial.
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Pillay BA, Fusaro M, Gray PE, Statham AL, Burnett L, Bezrodnik L, Kane A, Tong W, Abdo C, Winter S, Chevalier S, Levy R, Masson C, Schmitt Y, Bole C, Malphettes M, Macintyre E, De Villartay JP, Ziegler JB, Smart JM, Peake J, Aghamohammadi A, Hammarström L, Abolhassani H, Picard C, Fischer A, Latour S, Neven B, Tangye SG, Ma CS. Pillay BA, et al. Among authors: abolhassani h. J Clin Invest. 2021 Feb 1;131(3):e142434. doi: 10.1172/JCI142434. J Clin Invest. 2021. PMID: 33290277 Free PMC article. Clinical Trial.
359 results