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Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J. Esteve-Solé A, et al. Among authors: juan m. Crit Rev Clin Lab Sci. 2018 May;55(3):184-204. doi: 10.1080/10408363.2018.1444580. Epub 2018 Mar 4. Crit Rev Clin Lab Sci. 2018. PMID: 29502462 Free PMC article. Review.
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: juan m. Science. 2008 Aug 1;321(5889):691-6. doi: 10.1126/science.1158298. Science. 2008. PMID: 18669862 Free PMC article.
[Consensus Document on the differential diagnosis and therapeutic approach to recurrent fever by the Paediatric Infectology Society and the Paediatric Rheumatology Society].
Calvo Rey C, Soler-Palacín P, Merino Muñoz R, Saavedra Lozano J, Antón López J, Aróstegui JI, Blázquez Gamero D, Martín-Nalda A, Juan M, Méndez M, Piñeiro Perez R, Calvo I; Sociedad de Infectología Pediátrica; Sociedad de Reumatología Pediátrica. Calvo Rey C, et al. Among authors: juan m. An Pediatr (Barc). 2011 Mar;74(3):194.e1-16. doi: 10.1016/j.anpedi.2010.09.022. Epub 2010 Dec 18. An Pediatr (Barc). 2011. PMID: 21169071 Free article. Spanish.
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
Alsina L, González-Roca E, Giner MT, Piquer M, Puga I, Pascal M, Ruiz-Ortiz E, Badell I, Martín-Mateos MA, Cerutti A, Juan M, Yagüe J, Plaza AM, Aróstegui JI. Alsina L, et al. Among authors: juan m. J Allergy Clin Immunol. 2013 Sep;132(3):741-743.e2. doi: 10.1016/j.jaci.2013.03.038. Epub 2013 May 15. J Allergy Clin Immunol. 2013. PMID: 23683512 No abstract available.
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: juan m. 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: juan m. 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
526 results