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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2013 | 1 |
2014 | 1 |
2015 | 3 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
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Page 1
A partial form of inherited human USP18 deficiency underlies infection and inflammation.
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.
Item in Clipboard
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S.
Kreins AY, et al.
J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24.
J Exp Med. 2015.
PMID: 26304966
Free PMC article.
Item in Clipboard
Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O.
Olbrich P, et al.
Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14.
Pediatr Blood Cancer. 2015.
PMID: 26173802
Free PMC article.
Review.
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Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India.
Sharma VK, Pai G, Deswarte C, Lodha R, Singh S, Kang LW, Yin CC, Casanova JL, Bustamante J, Kabra SK.
Sharma VK, et al.
J Clin Immunol. 2015 Jul;35(5):459-62. doi: 10.1007/s10875-015-0173-1. Epub 2015 Jun 9.
J Clin Immunol. 2015.
PMID: 26054576
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Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL.
Bustamante J, et al.
Semin Immunol. 2014 Dec;26(6):454-70. doi: 10.1016/j.smim.2014.09.008. Epub 2014 Oct 26.
Semin Immunol. 2014.
PMID: 25453225
Free PMC article.
Review.
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The genetic theory of infectious diseases: a brief history and selected illustrations.
Casanova JL, Abel L.
Casanova JL, et al.
Annu Rev Genomics Hum Genet. 2013;14:215-43. doi: 10.1146/annurev-genom-091212-153448. Epub 2013 May 29.
Annu Rev Genomics Hum Genet. 2013.
PMID: 23724903
Free PMC article.
Review.
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