# Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/characterization-of-the-clinical-and-immunologic-phenotype-and-management-of-157/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Tiziana Lorenzini,Manfred Fliegauf,Nils Klammer,Natalie Frede,Michele Proietti,Alla Bulashevska,Nadezhda Camacho-Ordóñez,Markku Varjosalo,Matias Kinnunen,Esther de Vries,J.W.M. van der Meer,Rohan Ameratunga,Chaim M. Roifman,Yael Dinur Schejter,Robin Kobbe,Timo Hautala,Faranaz Atschekzei,Reinhold E. Schmidt,Claudia Schröder,Polina Stepensky,Bella Shadur,Luis Alberto Pedroza,Michiel van der Flier,Mónica Martínez‐Gallo,Luis Ignacio González‐Granado,Luís M. Allende,Anna Shcherbina,N. B. Kuzmenko,V.P. Zakharova,João Farela Neves,Peter Švec,Ute Fischer,Winnie Ip,Oliver Bartsch,Safa Barış,Christoph Klein,Raif S. Geha,Janet Chou,Mohammed F. Alosaimi,Lauren Weintraub,Kaan Boztuǧ,Tatjana Hirschmugl,Maria Marluce dos Santos Vilela,Dirk Holzinger,Maximilian Seidl,Vassilios Lougaris,Alessandro Plebani,Laia Alsina,M. Piquer‐Gibert,Àngela Deyà‐Martínez,C Slade,Asghar Aghamohammadi,Hassan Abolhassani,Lennart Hammarström,Outi Kuismin,Merja Helminen,Hana Lango Allen,James E. Thaventhiran,Alexandra F. Freeman,Matthew Cook,Shahrzad Bakhtiar,Mette Christiansen,Charlotte Cunningham‐Rundles,Niraj Patel,William Rae,Tim Niehues,Nina Brauer,Jaana Syrjänen,Mikko Seppänen,Siobhan O. Burns,Paul Tuijnenburg,Taco W. Kuijpers,Klaus Warnatz,Bodo Grimbacher,Zoe Adhya,Hana Alachkar,Ariharan Anantharachagan,Richard Antrobus,Gururaj Arumugakani,Sofie Ashford,William J. Astle,Anthony Attwood,Chiara Bacchelli,Joana Batista,Helen Baxendale,Claire Bethune,Shahnaz Bibi,Marta Bleda,Barbara Boardman,Claire Booth,John R. Bradley,Gerome Breen,Matthew A. Brown,Michael J. Browning,Mary Brownlie,Matthew Buckland,Siobhan O. Burns,Oliver S. Burren,Keren Carss,John C. Chambers |
| Citations | 132 |
| DOI | 10.1016/j.jaci.2019.11.051 |
| Fields | Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.jacionline.org/article/S009167492030422X/pdf |
| OpenAlex ID | https://openalex.org/W3016219406 |
| PMID | 32278790 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Luigi Grassi](https://scholariq.org/researchers/luigi-grassi/)

## Paper journal

- [Journal of Allergy and Clinical Immunology](https://scholariq.org/journals/journal-of-allergy-and-clinical-immunology/)

## Paper primary topic

- [NF-κB Signaling Pathways](https://scholariq.org/topics/nf-b-signaling-pathways/)

## Paper topics

- [NF-κB Signaling Pathways](https://scholariq.org/topics/nf-b-signaling-pathways/)
- [Immunodeficiency and Autoimmune Disorders](https://scholariq.org/topics/immunodeficiency-and-autoimmune-disorders/)
- [interferon and immune responses](https://scholariq.org/topics/interferon-and-immune-responses/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.