Concepedia

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,

Journal of Allergy and Clinical Immunology · 2023 · 68 citations · 39 references

DOIFull text

Open access

Concepts

References

39

Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>

Hye Sun Kuehn, Weiming Ouyang, Bernice Lo et al. · Science · 2014 · 846 citations

, , +17

Morbidity and mortality in common variable immune deficiency over 4 decades

Elena S. Resnick, Erin Moshier, James Godbold et al. · Blood · 2011 · 835 citations · Full text

, , +11

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Desirée Schubert, Claudia Bode, Rupert Kenefeck et al. · Nature Medicine · 2014 · 822 citations · Full text

, , +14

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

C. Lucas, Hye Sun Kuehn, Fang Zhao et al. · Nature Immunology · 2013 · 664 citations

, , +15

Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

Ivan L. Ângulo, Oscar Vadas, Fabien Garçon et al. · Science · 2013 · 623 citations · Full text

, , +17