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GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: peng xp. J Allergy Clin Immunol. 2024 Mar;153(3):831-843. doi: 10.1016/j.jaci.2023.11.022. Epub 2023 Nov 30. J Allergy Clin Immunol. 2024. PMID: 38040041 Free article.
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality.
Sindram E, Caballero-Oteyza A, Kogata N, Chor Mei Huang S, Alizadeh Z, Gámez-Díaz L, Fazlollhi MR, Peng X, Grimbacher B, Way M, Proietti M. Sindram E, et al. Dis Model Mech. 2023 Jul 1;16(7):dmm050145. doi: 10.1242/dmm.050145. Epub 2023 Jul 20. Dis Model Mech. 2023. PMID: 37382373 Free PMC article.
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A, Crisponi L, Peng XP, Wang H, Mrovecova P, Olla S, Siguri C, Marnissi F, Jouhadi Z, Aksentijevich I, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: peng xp. Res Sq [Preprint]. 2024 Mar 8:rs.3.rs-3950863. doi: 10.21203/rs.3.rs-3950863/v2. Res Sq. 2024. PMID: 38712244 Free PMC article. Preprint.
Approach to Diagnosing Inborn Errors of Immunity.
Peng X, Kaviany S. Peng X, et al. Rheum Dis Clin North Am. 2023 Nov;49(4):731-739. doi: 10.1016/j.rdc.2023.06.001. Epub 2023 Jul 21. Rheum Dis Clin North Am. 2023. PMID: 37821192 Review.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. Among authors: peng xp. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 Free PMC article.
64 results