Activated phosphoinositide 3-dinase delta syndrome (APDS): An update.

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a recently described form of inborn error of immunity (IEI) caused by heterozygous mutations in PIK3CD or PIK3R1 genes, respectively, encoding leukocyte-restricted catalytic p110δ subunit and the ubiquitously expressed regulatory p85 α subunit of the phosphoinositide 3-kinase δ (PI3Kδ). The first described patients with respiratory infections, hypogammaglobulinemia with normal to elevated IgM serum levels, lymphopenia, and lymphoproliferation. Since the original description, it is becoming evident that the onset of disease may be somewhat variable over time, both in terms of age at presentation and in terms of clinical and immunological complications. In many cases, patients are referred to various specialists such as hematologists, rheumatologists, gastroenterologists, and others, before an immunological evaluation is performed, leading to delay in diagnosis, which negatively affects their prognosis. The significant heterogeneity in the clinical and immunological features affecting APDS patients requires awareness among clinicians since good results with p110δ inhibitors have been reported, certainly ameliorating these patients' quality of life and prognosis. © 2022 The Authors. Pediatric Allergy and Immunology published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.

Citation

Vassilios Lougaris, Caterina Cancrini, Beatrice Rivalta, Riccardo Castagnoli, Giuliana Giardino, Stefano Volpi, Lucia Leonardi, Francesco La Torre, Silvia Federici, Stefania Corrente, Bianca Laura Cinicola, Annarosa Soresina, Gian Luigi Marseglia, Fabio Cardinale. Activated phosphoinositide 3-dinase delta syndrome (APDS): An update. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology. 2022 Jan 25;33 Suppl 27:69-72

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PMID: 35080319

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