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Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.
García-García A, Buendia Arellano M, Deyà-Martínez À, Lozano Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Yiyi L, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP, Alsina L. García-García A, et al. Pediatr Allergy Immunol. 2021 Apr;32(3):566-575. doi: 10.1111/pai.13398. Epub 2020 Nov 6. Pediatr Allergy Immunol. 2021. PMID: 33098103
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. 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. 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
Immunological Changes in Blood of Newborns Exposed to Anti-TNF-α during Pregnancy.
Esteve-Solé A, Deyà-Martínez À, Teixidó I, Ricart E, Gompertz M, Torradeflot M, de Moner N, Gonzalez EA, Plaza-Martin AM, Yagüe J, Juan M, Alsina L. Esteve-Solé A, et al. Front Immunol. 2017 Sep 21;8:1123. doi: 10.3389/fimmu.2017.01123. eCollection 2017. Front Immunol. 2017. PMID: 28983301 Free PMC article.
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. 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.
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B. Schwab C, et al. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4. J Allergy Clin Immunol. 2018. PMID: 29729943 Free PMC article.
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G, Esteve-Solé A, Piquer M, González-Navarro EA, Hernandez-Rodriguez J, Laayouni H, González-Roca E, Plaza-Martin AM, Deyà-Martínez Á, Martín-Nalda A, Martínez-Gallo M, García-Prat M, Del Pino-Molina L, Cuscó I, Codina-Solà M, Batlle-Masó L, Solís-Moruno M, Marquès-Bonet T, Bosch E, López-Granados E, Aróstegui JI, Soler-Palacín P, Colobran R, Yagüe J, Alsina L, Juan M, Casals F. de Valles-Ibáñez G, et al. Front Immunol. 2018 May 14;9:636. doi: 10.3389/fimmu.2018.00636. eCollection 2018. Front Immunol. 2018. PMID: 29867916 Free PMC article.
42 results