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Войти в исследования Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
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Maccari Maria Elena, Wolkewitz Martin, Schwab Charlotte, Lorenzini Tiziana, Leiding Jennifer W, Aladjdi Nathalie, Abolhassani Hassan, Abou-Chahla Wadih, Aiuti Alessandro, Azarnoush Saba, Baris Safa, Barlogis Vincent, Barzaghi Federica, Baumann Ulrich, Bloomfield Marketa, Bohynikova Nadezda, Bodet Damien, Boutboul David, Bucciol Giorgia, Buckland Matthew S, Burns Siobhan O, Cancrini Caterina, Cathébras Pascal, Cavazzana Marina, Cheminant Morgane, Chinello Matteo, Ciznar Peter, Coulter Tanya I, D'Aveni Maud, Ekwall Olov, Eric Zelimir, Eren Efrem, Fasth Anders, Frange Pierre, Fournier Benjamin, Garcia-Prat Marina, Gardembas Martine, Geier Christoph, Ghosh Sujal, Goda Vera, Hammarström Lennart, Hauck Fabian, Heeg Maximilian, Heropolitanska-Pliszka Edyta, Hilfanova Anna, Jolles Stephen, Karakoc-Aydiner Elif, Kindle Gerhard R, Kiykim Ayca, Klemann Christian, Koletsi Patra, Koltan Sylwia, Kondratenko Irina, Körholz Julia, Krüger Renate, Jeziorski Eric, Levy Romain, Le Guenno Guillaume, Lefevre Guillaume, Lougaris Vassilios, Marzollo Antonio, Mahlaoui Nizar, Malphettes Marion, Meinhardt Andrea, Merlin Etienne, Meyts Isabelle, Milota Tomas, Moreira Fernando, Moshous Despina, Mukhina Anna, Neth Olaf, Neubert Jennifer, Neven Benedicte, Nieters Alexandra, Nove-Josserand Raphaele, Oksenhendler Eric, Ozen Ahmet, Olbrich Peter, Perlat Antoinette, Pac Malgorzata, Schmid Jana Pachlopnik, Pacillo Lucia, Parra-Martinez Alba, Paschenko Olga, Pellier Isabelle, Sefer Asena Pinar, Plebani Alessandro, Plantaz Dominique, Prader Seraina, Raffray Loic, Ritterbusch Henrike, Riviere Jacques G, Rivalta Beatrice, Rusch Stephan, Sakovich Inga, Savic Sinisa, Scheible Raphael, Schleinitz Nicolas, Schuetz Catharina, Schulz Ansgar, Sediva Anna, Semeraro Michaela, Sharapova Svetlana O, Shcherbina Anna, Slatter Mary A, Sogkas Georgios, Soler-Palacin Pere, Speckmann Carsten, Stephan Jean-Louis, Suarez Felipe, Tommasini Alberto, Trück Johannes, Uhlmann Annette, van Aerde Koen J, van Montfrans Joris, von Bernuth Horst, Warnatz Klaus, Williams Tony, Worth Austen J J, Ip Winnie, Picard Capucine, Catherinot Emilie, Nademi Zohreh, Grimbacher Bodo, Forbes Satter Lisa R, Kracker Sven, Chandra Anita, Condliffe Alison M, Ehl Stephan, European Society for Immunodeficiencies Registry Working Party
Аннотация
OBJECTIVES: This study sought to report the extended spectrum of disease manifestations in APDS1 versus APDS2; compare these to CTLA4 deficiency, NFKB1 deficiency, and STAT3 gain-of-function (GOF) disease; and identify predictors of severity in APDS.
METHODS: Data was collected from the ESID (European Society for Immunodeficiencies)-APDS registry and was compared with published cohorts of the other IEIs.
RESULTS: The analysis of 170 patients with APDS outlines high penetrance and early onset of APDS compared to the other IEIs. The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophysiological convergence of the affected pathways. Preferentially affected organ systems indicate specific pathophysiology: bronchiectasis is typical of APDS1; interstitial lung disease and enteropathy are more common in STAT3 GOF and CTLA4 deficiency. Endocrinopathies are most frequent in STAT3 GOF, but growth impairment is also common, particularly in APDS2. Early clinical presentation is a risk factor for severe disease in APDS.
CONCLUSIONS: APDS illustrates how a single genetic variant can result in a diverse autoimmune-lymphoproliferative phenotype. Overlap with other IEIs 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.