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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Journal of Allergy and Clinical Immunology, Volume 148, No. 5, Year 2021
Notification
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Description
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. © 2021
Authors & Co-Authors
Kindle, Gerhard R.
Germany, Freiburg Im Breisgau
Universität Freiburg
Nieters, Alexandra
Germany, Freiburg Im Breisgau
Universität Freiburg
Seppänen, Mikko R.J.
Finland, Helsinki
Uudenmaan ja Helsingin Sairaanhoitopiirit
Fischer, Alain M.
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Grimbacher, Bodo
Germany, Freiburg Im Breisgau
Universität Freiburg
Germany, Freiburg Im Breisgau
Satellite Center Freiburg
Germany, Hannover
Hannover Medical School
Edgar, David M.
Ireland, Dublin
St James's Hospital
Ireland, Dublin
Trinity College Dublin
Buckland, Matthew S.
United Kingdom, London
University College London
United Kingdom, London
Royal Free London Nhs Foundation Trust
Mahlaoui, Nizar
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Ehl, Stephan R.
Germany, Freiburg Im Breisgau
Universität Freiburg
Boztug, Kaan
Unknown Affiliation
Brunner, Jürgen K.H.
Unknown Affiliation
Förster-Waldl, Elisabeth
Unknown Affiliation
Kojić, Marina
Unknown Affiliation
Seidel, Markus G.
Unknown Affiliation
Wintergerst, Uwe
Unknown Affiliation
Wisgrill, Lukas
Unknown Affiliation
Sharapova, Svetlana O.
Unknown Affiliation
Goffard, J. C.
Unknown Affiliation
Kerre, Tessa C.C.
Unknown Affiliation
Meyts, Isabelle
Unknown Affiliation
Haerynck, Filomeen
Unknown Affiliation
Richter, Darko
Unknown Affiliation
Hlaváčková, Eva O.
Unknown Affiliation
Litzman, Jiří
Unknown Affiliation
Milota, Tomáš
Unknown Affiliation
Šedivá, Anná
Unknown Affiliation
Alkady, Radwa Salaheldin
Unknown Affiliation
El Hawary, Rabab E.
Unknown Affiliation
Eldash, Alia S.
Unknown Affiliation
Galal, Nermeen Mouftah
Unknown Affiliation
Lotfy, Sohilla
Unknown Affiliation
Meshaal, Safa S.
Unknown Affiliation
Reda, Shereen Medhat
Unknown Affiliation
Sobh, Ali
Unknown Affiliation
Elmarsafy, Aisha M.
Unknown Affiliation
Courteille, Virginie
Unknown Affiliation
Kracker, Sven
Unknown Affiliation
Pergent, Martine
Unknown Affiliation
Albert, Michael Heinrich
Unknown Affiliation
Baumann, Ulrich H.
Unknown Affiliation
Binder, Nadine
Unknown Affiliation
Bode, Sebastian Felix Nepomuk
Unknown Affiliation
Boesecke, Christoph
Unknown Affiliation
Borte, Michael
Unknown Affiliation
Borte, Stephan
Unknown Affiliation
Dueckers, Gregor
Unknown Affiliation
El-Helou, Sabine M.
Unknown Affiliation
Felgentreff, Kerstin
Unknown Affiliation
Foell, Dirk
Unknown Affiliation
Ghosh, Sujal
Unknown Affiliation
Girschick, Hermann Josef
Unknown Affiliation
Goldacker, Sigune
Unknown Affiliation
Graf, Norbert M.
Unknown Affiliation
Graf, Dagmar
Unknown Affiliation
Greil, Johann
Unknown Affiliation
Hauck, Fabian H.
Unknown Affiliation
Heeg, Maximilian
Unknown Affiliation
Henes, Jörg Christoph
Unknown Affiliation
Hoenig, Manfred
Unknown Affiliation
Holzinger, Dirk
Unknown Affiliation
Horneff, Gerd
Unknown Affiliation
Kaiser-Labusch, Petra
Unknown Affiliation
Klemann, Christian
Unknown Affiliation
Kobbe, Robin
Unknown Affiliation
Kramm, Christof Maria
Unknown Affiliation
Kr̈uger, Renate
Unknown Affiliation
Lehmberg, Kai
Unknown Affiliation
Liese, Johannes Günter M.
Unknown Affiliation
Maccari, Maria Elena
Unknown Affiliation
Masjosthusmann, Katja
Unknown Affiliation
Metzler, Markus
Unknown Affiliation
Morbach, Henner
Unknown Affiliation
Müller, Ingo
Unknown Affiliation
Niehues, Tim
Unknown Affiliation
Peter, Hanshartmut
Unknown Affiliation
Rieber, Nikolaus
Unknown Affiliation
Rockstroh, Jürgen Kurt
Unknown Affiliation
Roesler, Joachim R.
Unknown Affiliation
Schauer, Uwe
Unknown Affiliation
Schmidt, Reinhold Ernst
Unknown Affiliation
Schneider, Dominik T.
Unknown Affiliation
Schreiber, Stefan W.
Unknown Affiliation
Schuetz, Catharina
Unknown Affiliation
Schulz, Ansgar Stephan
Unknown Affiliation
Schulze-Koops, Hendrik
Unknown Affiliation
Schuster, Volker H.
Unknown Affiliation
Schwarz, Klaus
Unknown Affiliation
Schwarze-Zander, Carolynne
Unknown Affiliation
Sparber-Sauer, Monika
Unknown Affiliation
Speckmann, Carsten
Unknown Affiliation
Steinmann, Sandra
Unknown Affiliation
von Bernuth, Horst
Unknown Affiliation
Warnatz, Klaus F.
Unknown Affiliation
Wasmuth, Jan Christian
Unknown Affiliation
Witte, Torsten
Unknown Affiliation
Wittkowski, Helmut
Unknown Affiliation
Farmaki, Evangelia
Unknown Affiliation
Kanariou, Maria G.
Unknown Affiliation
Papadopoulou-Alataki, Efimia
Unknown Affiliation
Goda, Veronika
Unknown Affiliation
Kriván, Gergely
Unknown Affiliation
Máródi, László D.R.
Unknown Affiliation
Abolhassani, Hassan
Unknown Affiliation
Aghamohammadi, Asgahr
Unknown Affiliation
Rezaei, Nima
Unknown Affiliation
Feighery, Conleth F.
Unknown Affiliation
Leahy, Timonthy Ronan
Unknown Affiliation
Garty, Ben Zion
Unknown Affiliation
Tamary, Hannah
Unknown Affiliation
Aïuti, Alessandro
Unknown Affiliation
Azzari, Chiara
Unknown Affiliation
Barzaghi, Federica
Unknown Affiliation
Cancrini, Caterina
Unknown Affiliation
Cesaro, Simone
Unknown Affiliation
Danieli, Maria Giovanna
Unknown Affiliation
Fabio, Giovanna
Unknown Affiliation
Gambineri, Eleonora
Unknown Affiliation
Lougaris, Vassilios
Unknown Affiliation
Martire, Baldassarre
Unknown Affiliation
Milito, Cinzia
Unknown Affiliation
Moschese, Viviana
Unknown Affiliation
Pignata, Claudio
Unknown Affiliation
Plebani, Alessandro
Unknown Affiliation
Porta, Fulvio A.
Unknown Affiliation
Quinti, Isabella
Unknown Affiliation
Soresina, Annarosa
Unknown Affiliation
Tommasini, Alberto
Unknown Affiliation
Vacca, Angelo
Unknown Affiliation
Sitkauskiene, Brigita
Unknown Affiliation
Pietrucha, Barbara Maria
Unknown Affiliation
Szaflarska, Anna
Unknown Affiliation
Wiȩsik-Szewczyk, Ewa
Unknown Affiliation
Wolska-Kuśnierz, Beata
Unknown Affiliation
Esteves, Isabel Castro
Unknown Affiliation
Faria, Emília G.
Unknown Affiliation
Marques, Laura Hora
Unknown Affiliation
Neves, João Farela
Unknown Affiliation
Guseva, Marina N.
Unknown Affiliation
Shcherbina, Anna Yu
Unknown Affiliation
Čižnár, Peter
Unknown Affiliation
Jesenak, M.
Unknown Affiliation
Allende, Luís Miguel
Unknown Affiliation
Carboné, Javier
Unknown Affiliation
Garcia-Prat, Marina
Unknown Affiliation
González-Granado, Luis Ignacio
Unknown Affiliation
Parra-Martinez, Alba
Unknown Affiliation
Pleguezuelo, Daniel Enrique
Unknown Affiliation
Sanchez-Ramón, Silvia Suárez
Unknown Affiliation
Soler-Palacín, P.
Unknown Affiliation
Ekwall, Olov
Unknown Affiliation
Fasth, Anders L.
Unknown Affiliation
Candotti, Fabio
Unknown Affiliation
Heininger, Ulrich
Unknown Affiliation
Holbro, Andreas
Unknown Affiliation
Kolios, Antonios G.A.
Unknown Affiliation
Pósfay-Barbe, Klara Maria
Unknown Affiliation
Prader, Seraina
Unknown Affiliation
Reichenbach, Janine
Unknown Affiliation
Steiner, Urs Christian
Unknown Affiliation
Trück, Johannes
Unknown Affiliation
Bredius, Robbert G.M.
Unknown Affiliation
de Vries, Esther
Unknown Affiliation
Kuijpers, Taco W.
Unknown Affiliation
van Aerde, Koen J.
Unknown Affiliation
van den Berg, J. Merlijn
Unknown Affiliation
Montfrans, Jorisvan M.(Joris)
Unknown Affiliation
Bariş, Safa
Unknown Affiliation
Dogu, F. E.
Unknown Affiliation
Ikincioǧullarí, Aydan İ.
Unknown Affiliation
Karakoç-Aydiner, Elif
Unknown Affiliation
Kiliç, Sara Şebnem
Unknown Affiliation
Kiykim, Ayca A.
Unknown Affiliation
Kütükçüler, Necil
Unknown Affiliation
Unal, Ekrem K.
Unknown Affiliation
Boyarchuk, Oksana R.
Unknown Affiliation
Hilfanova, Anna M.
Unknown Affiliation
Kostyuchenko, Larysa V.
Unknown Affiliation
Alachkar, Hana
Unknown Affiliation
Arkwright, Peter D.
Unknown Affiliation
Baxendale, Helen E.
Unknown Affiliation
Bernatoniene, Jolanta
Unknown Affiliation
Garcez, Tomaz Pereira
Unknown Affiliation
Gompels, Mark M.
Unknown Affiliation
Grigoriadou, Sofia
Unknown Affiliation
Huissoon, Aarnoud P.
Unknown Affiliation
Nademi, Zohreh
Unknown Affiliation
Waruiru, Catherine M.
Unknown Affiliation
Statistics
Citations: 58
Authors: 187
Affiliations: 9
Identifiers
Doi:
10.1016/j.jaci.2021.04.015
ISSN:
00916749
Study Design
Cohort Study
Participants Gender
Male
Female