Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Scott B. Drutman, Filomeen Haerynck, Franklin L. Zhong, David Hum, Nicholas J. Hernandez, Serkan Belkaya, Franck Rapaport, Sarah Jill de Jong, David Creytens, Simon J. Tavernier, Katrien Bonte, Sofie De Schepper, Jutte van der Werff ten Bosch, Lazaro Lorenzo-Diaz, Andy Wullaert, Xavier Bossuyt, Gérard Orth, Vincent R. Bonagura, Vivien Béziat, Laurent AbelEmmanuelle Jouanguy, Bruno Reversade, Jean Laurent-Casanova*

*Corresponding author for this work

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98 Citations (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology