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Page 1
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J. Le Voyer T, et al. Among authors: alsina l. J Immunol. 2021 Jul 1;207(1):133-152. doi: 10.4049/jimmunol.2001451. Epub 2021 Jun 28. J Immunol. 2021. PMID: 34183371 Free PMC article.
Association between soluble angiotensin-converting enzyme 2 in saliva and SARS-CoV-2 infection: a cross-sectional study.
Bru S, Brotons P, Jordan I, Alsina L, Henares D, Carballar R, de Sevilla MF, Barrabeig I, Fumado V, Baro B, Martínez-Láinez JM, Garcia-Garcia JJ, Bassat Q, Balaguer A, Clotet J, Launes C, Muñoz-Almagro C. Bru S, et al. Among authors: alsina l. Sci Rep. 2023 Apr 12;13(1):5985. doi: 10.1038/s41598-023-31911-2. Sci Rep. 2023. PMID: 37045853 Free PMC article.
Pyogenic bacterial infections in humans with MyD88 deficiency.
von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Aróstegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yagüe J, Antón J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Maródi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL. von Bernuth H, et al. Among authors: alsina l. Science. 2008 Aug 1;321(5889):691-6. doi: 10.1126/science.1158298. Science. 2008. PMID: 18669862 Free PMC article.
A novel form of human STAT1 deficiency impairing early but not late responses to interferons.
Kong XF, Ciancanelli M, Al-Hajjar S, Alsina L, Zumwalt T, Bustamante J, Feinberg J, Audry M, Prando C, Bryant V, Kreins A, Bogunovic D, Halwani R, Zhang XX, Abel L, Chaussabel D, Al-Muhsen S, Casanova JL, Boisson-Dupuis S. Kong XF, et al. Among authors: alsina l. Blood. 2010 Dec 23;116(26):5895-906. doi: 10.1182/blood-2010-04-280586. Epub 2010 Sep 14. Blood. 2010. PMID: 20841510 Free PMC article.
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL. Picard C, et al. Among authors: alsina l. Medicine (Baltimore). 2010 Nov;89(6):403-425. doi: 10.1097/MD.0b013e3181fd8ec3. Medicine (Baltimore). 2010. PMID: 21057262 Free PMC article.
IRF8 mutations and human dendritic-cell immunodeficiency.
Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, Menon G, Trouillet C, McDonald D, Carey P, Ginhoux F, Alsina L, Zumwalt TJ, Kong XF, Kumararatne D, Butler K, Hubeau M, Feinberg J, Al-Muhsen S, Cant A, Abel L, Chaussabel D, Doffinger R, Talesnik E, Grumach A, Duarte A, Abarca K, Moraes-Vasconcelos D, Burk D, Berghuis A, Geissmann F, Collin M, Casanova JL, Gros P. Hambleton S, et al. Among authors: alsina l. N Engl J Med. 2011 Jul 14;365(2):127-38. doi: 10.1056/NEJMoa1100066. Epub 2011 Apr 27. N Engl J Med. 2011. PMID: 21524210 Free PMC article.
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.
Guo Y, Audry M, Ciancanelli M, Alsina L, Azevedo J, Herman M, Anguiano E, Sancho-Shimizu V, Lorenzo L, Pauwels E, Philippe PB, Pérez de Diego R, Cardon A, Vogt G, Picard C, Andrianirina ZZ, Rozenberg F, Lebon P, Plancoulaine S, Tardieu M, Valérie Doireau, Jouanguy E, Chaussabel D, Geissmann F, Abel L, Casanova JL, Zhang SY. Guo Y, et al. Among authors: alsina l. J Exp Med. 2011 Sep 26;208(10):2083-98. doi: 10.1084/jem.20101568. Epub 2011 Sep 12. J Exp Med. 2011. PMID: 21911422 Free PMC article.
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. Among authors: alsina l. 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.
Clues to management of neonatally diagnosed BTK deficiency.
Deyà-Martínez A, Esteve-Sole A, Giner MT, Aróstegui JI, Ruiz-Ortiz E, Yagüe J, Juan M, Plaza AM, Alsina L. Deyà-Martínez A, et al. Among authors: alsina l. Pediatr Allergy Immunol. 2016 Jun;27(4):428-30. doi: 10.1111/pai.12549. Epub 2016 Mar 16. Pediatr Allergy Immunol. 2016. PMID: 26844683 No abstract available.
Humoral deficiency in three paediatric patients with genetic diseases.
Calvo Campoverde K, Gean E, Piquer Gibert M, Martinez Valdez L, Deyà-Martínez A, Rojas Volquez M, Esteve-Sole A, Juan M, Plaza AM, Alsina L. Calvo Campoverde K, et al. Among authors: alsina l. Allergol Immunopathol (Madr). 2016 May-Jun;44(3):257-62. doi: 10.1016/j.aller.2015.07.007. Epub 2016 Mar 2. Allergol Immunopathol (Madr). 2016. PMID: 26947896
122 results