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

Year Number of Results
2010 3
2011 7
2012 6
2013 12
2014 4
2015 5
2016 2
2017 2
2018 11
2019 3
2020 7
2021 1
2022 5
2023 3
2024 0

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65 results

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Page 1
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.
Errami A, Baghdadi JE, Ailal F, Benhsaien I, Bakkouri JE, Jeddane L, Rada N, Benajiba N, Mokhantar K, Ouazahrou K, Zaidi S, Abel L, Casanova JL, Boisson-Dupuis S, Bustamante J, Bousfiha AA. Errami A, et al. J Clin Immunol. 2023 May;43(4):728-740. doi: 10.1007/s10875-022-01419-x. Epub 2023 Jan 11. J Clin Immunol. 2023. PMID: 36630059 Free PMC article.
Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria.
Daza-Cajigal V, Albuquerque AS, Young DF, Ciancanelli MJ, Moulding D, Angulo I, Jeanne-Julien V, Rosain J, Minskaia E, Casanova JL, Boisson-Dupuis S, Bustamante J, Randall RE, McHugh TD, Thrasher AJ, Burns SO. Daza-Cajigal V, et al. Front Immunol. 2022 Sep 9;13:888427. doi: 10.3389/fimmu.2022.888427. eCollection 2022. Front Immunol. 2022. PMID: 36159783 Free PMC article.
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
Rosain J, Bernasconi A, Prieto E, Caputi L, Le Voyer T, Buda G, Marti M, Bohlen J, Neehus AL, Castaños C, Gallagher R, Dorgham K, Oleastro M, Perez L, Danielian S, Dipierri JE, Casanova JL, Bustamante J, Villa M. Rosain J, et al. J Clin Immunol. 2022 Jul;42(5):975-985. doi: 10.1007/s10875-022-01250-4. Epub 2022 Mar 26. J Clin Immunol. 2022. PMID: 35338423 Free PMC article.
A partial form of inherited human USP18 deficiency underlies infection and inflammation.
Martin-Fernandez M, Buta S, Le Voyer T, Li Z, Dynesen LT, Vuillier F, Franklin L, Ailal F, Muglia Amancio A, Malle L, Gruber C, Benhsaien I, Altman J, Taft J, Deswarte C, Roynard M, Nieto-Patlan A, Moriya K, Rosain J, Boddaert N, Bousfiha A, Crow YJ, Jankovic D, Sher A, Casanova JL, Pellegrini S, Bustamante J, Bogunovic D. Martin-Fernandez M, et al. J Exp Med. 2022 Apr 4;219(4):e20211273. doi: 10.1084/jem.20211273. Epub 2022 Mar 8. J Exp Med. 2022. PMID: 35258551 Free PMC article.
Impaired respiratory burst contributes to infections in PKCδ-deficient patients.
Neehus AL, Moriya K, Nieto-Patlán A, Le Voyer T, Lévy R, Özen A, Karakoc-Aydiner E, Baris S, Yildiran A, Altundag E, Roynard M, Haake K, Migaud M, Dorgham K, Gorochov G, Abel L, Lachmann N, Dogu F, Haskologlu S, İnce E, El-Benna J, Uzel G, Kiykim A, Boztug K, Roderick MR, Shahrooei M, Brogan PA, Abolhassani H, Hancioglu G, Parvaneh N, Belot A, Ikinciogullari A, Casanova JL, Puel A, Bustamante J. Neehus AL, et al. J Exp Med. 2021 Sep 6;218(9):e20210501. doi: 10.1084/jem.20210501. Epub 2021 Jul 15. J Exp Med. 2021. PMID: 34264265 Free PMC article.
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Mahdaviani SA, Mansouri D, Jamee M, Zaki-Dizaji M, Aghdam KR, Mortaz E, Khorasanizadeh M, Eskian M, Movahedi M, Ghaffaripour H, Baghaie N, Hassanzad M, Chavoshzadeh Z, Mansouri M, Mesdaghi M, Ghaini M, Noori F, Eskandarzadeh S, Kahkooi S, Poorabdolah M, Tabarsi P, Moniri A, Farnia P, Karimi A, Boisson-Dupuis S, Rezaei N, Marjani M, Casanova JL, Bustamante J, Velayati AA. Mahdaviani SA, et al. J Clin Immunol. 2020 Aug;40(6):872-882. doi: 10.1007/s10875-020-00813-7. Epub 2020 Jun 30. J Clin Immunol. 2020. PMID: 32602053
65 results