Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional ass...
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
About this item
Full title
Author / Creator
Kodati, Shilpa , Mattapallil, Mary J , Tian, Xiaoying , Soldatos, Ariane , Kao-Hsieh, Marie , Cowen, Edward W , Kalsi, Shelley , Khavandgar, Zohreh , Rosenzweig, Sofia , Romeo, Tina , Sen, Nida , Dusser, Perrine , Touitou, Isabelle , Titah, Salah Mohamed , van der Spek, Peter J , Apalset, Ellen M , Nishikomori, Ryuta , Sangiorgi, Eugenio , Manna, Raffaele , Brooks, Brian P , Sobrin, Lucia , Beck, David , Aksentijevich, Ivona , Kastner, Daniel L , Azamian, Mahshid S. , Bademci, Guney , Balasubramanyam, Ashok , Bamshad, Michael , Bayrak-Toydemir, Pinar , Beck, Anita , Behrens, Edward , Berg-Rood, Beverly , Bonner, Devon , Brokamp, Elly , Brown, Gabrielle , Carey, John , Chang, TaChen Peter , Chao, Hsiao-Tuan , Coakley, Terra R. , Coggins, Matthew , Cooper, Cynthia M. , Craigen, William J. , Davis, Joie , Dipple, Katrina , Doss, Argenia L. , Emrick, Lisa T. , Falk, Marni , Fernandez, Liliana , Fieg, Elizabeth L. , Fisher, Paul G. , Glass, Ian , Golden-Grant, Katie , Grajewski, Alana , Don Hadley, Sihoun Hahn , High, Frances , Holm, Ingrid A. , Huang, Alden , Jarvik, Gail P. , Jarvik, Jeffrey , Kennedy, Jennifer , Kobren, Shilpa N. , Lam, Byron , Lanza, Ian R. , LeBlanc, Kimberly , Lewis, Richard A. , Loo, Sandra K. , MacRae, Calum A. , Mak, Bryan C. , McCauley, Jacob , McGee, Elisabeth , Mirzaa, Ghayda , Nakano-Okuno, Mariko , Orengo, James P. , Carl Pallais, J. , Pusey, Barbara N. , Raskind, Wendy , Rosenfeld, Jill A. , Ruzhnikov, Maura , Sacco, Ralph , Schedl, Timothy , Schoch, Kelly , Shashi, Vandana , Sisco, Kathy , Ben Solomon, Rebecca C. Spillmann , Sullivan, Jennifer A. , Sun, Angela , Tabor, Holly K. , Tran, Alyssa A. , Vanderver, Adeline , Viskochil, Dave , Wambach, Jennifer , Wan, Jijun , Ward, Patricia A. , Weisz-Hubshman, Monika , Perry, Katherine Wesseling , Westerfield, Monte , Worley, Kim , Xiao, Changrui , Yang, John , Zuchner, Stephan and Undiagnosed Diseases Network
Publisher
England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd and European League Against Rheumatism
Subjects
More information
Scope and Contents
Contents
ObjectivesTo test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in ALPK1, is an autoinflammatory disease.MethodsThis cohort study systematically evaluated 27 patients with ROSAH syndrome for inflammatory features and investigated the effect of ALPK1 mut...
Alternative Titles
Full title
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
Authors, Artists and Contributors
Author / Creator
Mattapallil, Mary J
Tian, Xiaoying
Soldatos, Ariane
Kao-Hsieh, Marie
Cowen, Edward W
Kalsi, Shelley
Khavandgar, Zohreh
Rosenzweig, Sofia
Romeo, Tina
Sen, Nida
Dusser, Perrine
Touitou, Isabelle
Titah, Salah Mohamed
van der Spek, Peter J
Apalset, Ellen M
Nishikomori, Ryuta
Sangiorgi, Eugenio
Manna, Raffaele
Brooks, Brian P
Sobrin, Lucia
Beck, David
Aksentijevich, Ivona
Kastner, Daniel L
Azamian, Mahshid S.
Bademci, Guney
Balasubramanyam, Ashok
Bamshad, Michael
Bayrak-Toydemir, Pinar
Beck, Anita
Behrens, Edward
Berg-Rood, Beverly
Bonner, Devon
Brokamp, Elly
Brown, Gabrielle
Carey, John
Chang, TaChen Peter
Chao, Hsiao-Tuan
Coakley, Terra R.
Coggins, Matthew
Cooper, Cynthia M.
Craigen, William J.
Davis, Joie
Dipple, Katrina
Doss, Argenia L.
Emrick, Lisa T.
Falk, Marni
Fernandez, Liliana
Fieg, Elizabeth L.
Fisher, Paul G.
Glass, Ian
Golden-Grant, Katie
Grajewski, Alana
Don Hadley, Sihoun Hahn
High, Frances
Holm, Ingrid A.
Huang, Alden
Jarvik, Gail P.
Jarvik, Jeffrey
Kennedy, Jennifer
Kobren, Shilpa N.
Lam, Byron
Lanza, Ian R.
LeBlanc, Kimberly
Lewis, Richard A.
Loo, Sandra K.
MacRae, Calum A.
Mak, Bryan C.
McCauley, Jacob
McGee, Elisabeth
Mirzaa, Ghayda
Nakano-Okuno, Mariko
Orengo, James P.
Carl Pallais, J.
Pusey, Barbara N.
Raskind, Wendy
Rosenfeld, Jill A.
Ruzhnikov, Maura
Sacco, Ralph
Schedl, Timothy
Schoch, Kelly
Shashi, Vandana
Sisco, Kathy
Ben Solomon, Rebecca C. Spillmann
Sullivan, Jennifer A.
Sun, Angela
Tabor, Holly K.
Tran, Alyssa A.
Vanderver, Adeline
Viskochil, Dave
Wambach, Jennifer
Wan, Jijun
Ward, Patricia A.
Weisz-Hubshman, Monika
Perry, Katherine Wesseling
Westerfield, Monte
Worley, Kim
Xiao, Changrui
Yang, John
Zuchner, Stephan
Undiagnosed Diseases Network
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9484401
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9484401
Other Identifiers
ISSN
0003-4967,1468-2060
E-ISSN
1468-2060
DOI
10.1136/annrheumdis-2022-222629
