Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Maria Elena Maccari,Martin Wolkewitz,Charlotte Schwab, Tiziana Lorenzini,Jennifer W. Leiding, Nathalie Aladjdi,Hassan Abolhassani,Wadih Abou-Chahla,Alessandro Aiuti,Saba Azarnoush,Safa Baris,Vincent Barlogis,Federica Barzaghi,Ulrich Baumann,Marketa Bloomfield,Nadezda Bohynikova,Damien Bodet,David Boutboul,Giorgia Bucciol,Matthew S. Buckland

The Journal of allergy and clinical immunology（2023）

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摘要

APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEI is substantial. Some specific features distinguish APDS1 from APDS2. Early-onset is a risk factor for severe disease course calling for specific treatment studies in younger patients.

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关键词

APDS,PIK3CD,PIK3R1,PI3K,STAT3,CTLA4,NFKB1,IEI,ESID,immunodeficiency

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