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Background: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations / Thalhammer J., Kindle G., Nieters A., Rusch S., Seppanen M.R.J., Fischer A., Grimbacher B., Edgar D., Buckland M., Mahlaoui N., Ehl S., Boztug K., Brunner J., Demel U.F., Forster-Waldl E., Gasteiger L.M., Goschl L., Kojic M., Schroll A., Seidel M.G., et al.. - In: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. - ISSN 0091-6749. - ELETTRONICO. - (2021), pp. 1-15. [10.1016/j.jaci.2021.04.015]
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Thalhammer J.;Kindle G.;Nieters A.;Rusch S.;Seppanen M. R. J.;Fischer A.;Grimbacher B.;Edgar D.;Buckland M.;Mahlaoui N.;Ehl S.;Boztug K.;Brunner J.;Demel U. F.;Forster-Waldl E.;Gasteiger L. M.;Goschl L.;Kojic M.;Schroll A.;Seidel M. G.;Wintergerst U.;Wisgrill L.;Sharapova S. O.;Goffard J. -C.;Kerre T.;Meyts I.;Roosens F.;Smet J.;Haerynck F.;Eric Z. P.;Milenova V.;Gagro A.;Richter D.;Chovancova Z.;Hlavackova E.;Litzman J.;Milota T.;Sediva A.;Elaziz D. A.;Alkady R. S.;El Sayed El Hawary R.;Eldash A. S.;Galal N.;Lotfy S.;Meshaal S. S.;Reda S. M.;Sobh A.;Elmarsafy A.;Brosselin P.;Courteille V.;De Vergnes N.;Kracker S.;Pergent M.;Randrianomenjanahary P.;Ahrenstorf G.;Albert M. H.;Ankermann T.;Atschekzei F.;Baumann U.;Becker B. C.;Behrends U.;Belohradsky B. H.;Biegner A. -K.;Binder N.;Bode S. F. N.;Boesecke C.;Boetticher B.;Borte M.;Borte S.;Classen C. F.;Dirks J.;Duckers G.;El-Helou S.;Ernst D.;Fasshauer M.;Fecker G.;Felgentreff K.;Foell D.;Ghosh S.;Girschick H. J.;Goldacker S.;Graf N.;Graf D.;Greil J.;Hanitsch L. G.;Hauck F.;Heeg M.;Heine S. I.;Henes J. C.;Hoenig M.;Holzer U.;Holzinger D.;Horneff G.;Hundsdoerfer P.;Jablonka A.;Jakoby D.;Joean O.;Kaiser-Labusch P.;Klemann C.;Kobbe R.;Korholz J.;Kramm C. M.;Kruger R.;Landwehr-Kenzel S.;Lehmberg K.;Liese J. G.;Lippert C. F.;Maccari M. E.;Masjosthusmann K.;Meinhardt A.;Metzler M.;Morbach H.;Muller I.;Naumann-Bartsch N.;Neubert J.;Niehues T.;Peter H. -H.;Rieber N.;Ritterbusch H.;Rockstroh J. K.;Roesler J.;Schauer U.;Scheible R.;Schmalzing M.;Schmidt R. E.;Schneider D. T.;Schreiber S.;Schuetz C.;Schulz A.;Schulze-Koops H.;Schulze-Sturm U.;Schuster V.;Schwaneck E. C.;Schwarz K.;Schwarze-Zander C.;Sirin M.;Skapenko A.;Sogkas G.;Sparber-Sauer M.;Speckmann C.;Steinmann S.;Stiehler S.;Tenbrock K.;von Bernuth H.;Warnatz K.;Wasmuth J. -C.;Weiss M.;Witte T.;Wittke K.;Wittkowski H.;Zeuner R. A.;Farmaki E.;Hatzistilianou M. N.;Kakkas I.;Kanariou M. G.;Kapousouzi A.;Liatsis E.;Maggina P.;Papadopoulou-Alataki E.;Raptaki M.;Speletas M.;Tantou S.;Goda V.;Krivan G.;Marodi L.;Abolhassani H.;Aghamohammadi A.;Rezaei N.;Feighery C.;Leahy T. R.;Ryan P.;Batzir N. A.;Garty B. Z.;Tamary H.;Aiuti A.;Amodio D.;Azzari C.;Barzaghi F.;Baselli L. A.;Cancrini C.;Carrabba M.;Cazzaniga M.;Cesaro S.;Chinello M.;Danieli M. G.;Dellepiane R. M.;Fabio G.;Gambineri E.;Lodi L.;Lougaris V.;Marasco C.;Martire B.;Marzollo A.;Milito C.;Moschese V.;Pignata C.;Plebani A.;Porta F.;Quinti I.;Ricci S.;Soresina A.;Tommasini A.;Vacca A.;Vanessa C.;Blaziene A.;Sitkauskiene B.;Gowin E.;Heropolitanska-Pliszka E.;Pietrucha B.;Szaflarska A.;Wiesik-Szewczyk E.;Wolska-Kusnierz B.;Esteves I.;Faria E.;Marques L. H.;Neves J. F.;Silva S. L.;Teixeira C.;Pereira da Silva S.;Capilna B. R.;Guseva M. N.;Shcherbina A.;Bobcakova A.;Ciznar P.;Gabzdilova J.;Jesenak M.;Kapustova L.;Orosova J.;Petrovicova O.;Raffac S.;Kopac P.;Allende L. M.;Antoli A.;Blanch G. R.;Carbone J.;Dieli-Crimi R.;Garcia-Prat M.;Gil-Herrera J.;Gonzalez-Granado L. I.;Agullo P. L.;Olbrich P.;Parra-Martinez A.;Paz-Artal E.;Pleguezuelo D. E.;Rodriguez N. S.;Sanchez-Ramon S.;Santos-Perez J. L.;Solanich X.;Soler-Palacin P.;Gonzalez-Amores M.;Ekwall O.;Fasth A.;Bitzenhofer-Gruber M.;Candotti F.;Dimitriou F.;Heininger U.;Holbro A.;Jandus P.;Kolios A. G. A.;Marschall K.;Schmid J. P.;Posfay-Barbe K. M.;Prader S.;Reichenbach J.;Steiner U. C.;Truck J.;Bredius R. G.;de Kruijf- Bazen S.;de Vries E.;Henriet S. S. V.;Kuijpers T. W.;Potjewijd J.;Rutgers A.;Stol K.;van Aerde K. J.;Van den Berg J. M.;van de Ven A. A. J. M.;Montfrans J.;Aydemir S.;Baris S.;Dogu F.;Ikinciogullari A.;Karakoc-Aydiner E.;Kilic S. S.;Kiykim A.;Kokcu Karadag S. I.;Kutukculer N.;Ocak S.;UNAL E.;Boyarchuk O.;Hilfanova A.;Kostyuchenko L. V.;Alachkar H.;Arkwright P. D.;Baxendale H. E.;Bernatoniene J.;Coulter T. I.;Garcez T.;Goddard S.;Gompels M. M.;Grigoriadou S.;Herriot R.;Herwadkar A.;Huissoon A.;Ibberson L.;Nademi Z.;Noorani S.;Parvin S.;Steele C. L.;Thomas M.;Waruiru C.;Yong P. F. K.;Bourne H.
2021
Abstract
Background: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1243340
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simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall’Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l’Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.
