Mutations in the Tyrosine-Protein Kinase Lyn Cause an Early-Onset Neutrophilic Vasculitis Syndrome

被引：0

作者：

de Jesus, Adriana Almeida ^{[1
]}

Montealegre, Gina A. ^{[1
]}

Freeman, Helen ^{[2
]}

Martin, Neil ^{[3
]}

Omoyinmi, Ebun ^{[4
]}

Marrero, Bernadette ^{[1
]}

Calvo, Katherine R. ^{[5
]}

Lee, Chyi-Chia Richard ^{[6
]}

Brundidge, April D. ^{[7
]}

Kleiner, David ^{[8
]}

Hewitt, Stephen ^{[8
]}

Chapelle, Dawn C. ^{[7
]}

Huang, Yan ^{[1
]}

Shah, Nirali ^{[8
]}

Brooks, Stephen ^{[7
]}

Meffre, Eric ^{[9
]}

Brogan, Paul ^{[4
,10
]}

Kuehn, Hyesun ^{[11
]}

Rosenzweig, Sergio ^{[12
]}

Merchant, Melinda ^{[8
]}

Deng, Zuoming ^{[7
]}

Moir, Susan ^{[1
]}

Goldbach-Mansky, Raphaela ^{[13
]}

机构：

[1] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[2] Raigrnore Hosp, Inverness, Scotland

[3] Royal Hosp Children, Glasgow, Lanark, Scotland

[4] UCL, Inst Child Hlth, London, England

[5] NIH, Dept Lab Med, Hematol Sect, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA

[6] NCI, Dermatopathol Sect, Pathol Lab, NIH, Bethesda, MD 20892 USA

[7] NIAMS, NIH, Bethesda, MD USA

[8] NCI, NIH, Bethesda, MD 20892 USA

[9] Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT USA

[10] Great Ormond St Hosp NHS Fdn Trust, London, England

[11] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA

[12] NIH, Dept Lab Med, Bldg 10, Bethesda, MD 20892 USA

[13] NIAID, Translat Autoinflammatory Dis Studies, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

来源：

ARTHRITIS & RHEUMATOLOGY | 2016年 / 68卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

2430

引用

页数：3

共 50 条

[1] MUTATIONS IN THE TYROSINE-PROTEIN KINASE LYN CAUSE AN EARLY-ONSET NEUTROPHILIC VASCULITIS SYNDROME
Jesus, Adriana A.
Montealegre, Gina
Freeman, Helen
Martin, Neil
Omoyinmi, Ebun
Calvo, Katherine R.
Lee, Chyi-chia
Brundidge, April
Kleiner, David, Jr.
Hewitt, Stephen
Chapelle, Dawn
Huang, Yan
Shah, Nirali
Brooks, Stephen
Meffre, Eric
Brogan, Paul
Kuehn, Hyesun
Rosenzweig, Sergio D.
Deng, Zuoming
Moir, Susan
Goldbach-Mansky, Raphaela
Marrero, Bernadette
JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (02) : 261 - 262
[2] Small Vessel Vasculitis Syndrome with Autoinflammation Caused by De Novo Mutations in LYN Kinase
de Jesus, Adriana
Sanchez, Gina Montealegre
Freeman, Helen
Martin, Neil
Omoyinmi, Ebun
Calvo, Katherine
Lee, Richard Chyi-Chia
Passo, Murray
Ruth, Natasha
Kleiner, David
Huang, Yan
Shah, Nirali
Brogan, Paul
Hwang, Sujin
Kuehn, HyeSun
Rosenzweig, Sergio
Deng, Zuoming
Huttenlocher, Anna
Moir, Susan
Kuhns, Douglas
Goldbach-Mansky, Raphaela
ARTHRITIS & RHEUMATOLOGY, 2019, 71
[3] Truncating Mutations in SAMD9L Cause an Early-Onset Immune-Dysregulatory Syndrome of Neutrophilic Panniculitis, Interstitial Lung Disease and Cytopenias
de Jesus, Adriana Almeida
Lin, Bin
Calvo, Katherine R.
Sanchez, Gina A. Montelagere
Mitchell, Jacob T.
Marrero, Bernadette
Dare, Jason
Burnham, Jon
Chan, Alice
Stepanovskiy, Yuriy
Rosen-Wolff, Angela
Hedrich, Christian M.
Lee-Kirsch, Min Ae
Bezrodnik, Liliana
Seminario, Analia Gisela
Caldirola, Maria Soledad
Allenspach, Eric
Torgerson, Troy R.
Finn, Laura
Alsaleem, Alhanouf A.
Hwang, Su Jin
Kuehn, Hye Sun
Rosenzweig, Sergio
Brooks, Stephen
Deng, Zuoming
Goldbach-Mansky, Raphaela
JOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (SUPPL 1) : S149 - S150
[4] Mortalin mutations are not a frequent cause of early-onset Parkinson disease
Freimann, Karen
Zschiedrich, Katja
Brueggemann, Norbert
Gruenewald, Anne
Pawlack, Heike
Hagenah, Johann
Lohmann, Katja
Klein, Christine
Westenberger, Ana
NEUROBIOLOGY OF AGING, 2013, 34 (11) : 2694.e19 - 2694.e20
[5] Germline PTEN mutations as a cause of early-onset endometrial cancer
Blumenthal, Gideon M.
Dennis, Phillip A.
JOURNAL OF CLINICAL ONCOLOGY, 2008, 26 (13) : 2234 - 2234
[6] De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Guella, Ilaria
McKenzie, Marna B.
Evans, Daniel M.
Buerki, Sarah E.
Toyota, Eric B.
Van Allen, Margot I.
Suri, Mohnish
Elmslie, Frances
Simon, Marleen E. H.
van Gassen, Koen L. I.
Heron, Delphine
Keren, Boris
Nava, Caroline
Connolly, Mary B.
Demos, Michelle
Farrer, Matthew J.
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (02) : 300 - 310
[7] Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy
Miyake, Noriko
Fukai, Ryoko
Ohba, Chihiro
Chihara, Takahiro
Miura, Masayuki
Shimizu, Hiroshi
Kakita, Akiyoshi
Imagawa, Eri
Shiina, Masaaki
Ogata, Kazuhiro
Okuno-Yuguchi, Jiu
Fueki, Noboru
Ogiso, Yoshifumi
Suzumura, Hiroshi
Watabe, Yoshiyuki
Imataka, George
Leong, Huey Yin
Fattal-Valevski, Aviva
Kramer, Uri
Miyatake, Satoko
Kato, Mitsuhiro
Okamoto, Nobuhiko
Sato, Yoshinori
Mitsuhashi, Satomi
Nishino, Ichizo
Kaneko, Naofumi
Nishiyama, Akira
Tamura, Tomohiko
Mizuguchi, Takeshi
Nakashima, Mitsuko
Tanaka, Fumiaki
Saitsu, Hirotomo
Matsumoto, Naomichi
AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 950 - 961
[8] Truncating Mutations in SAMD9L Cause an Early-Onset Immune-Dysregulatory Syndrome of Neutrophilic Panniculitis, Interstitial Lung Disease and Cytopenias
de Jesus, Adriana Almeida
Marrero, Bernadette
Sanchez, Gina A. Montealegre
Burnham, Jon Sandy
Chan, Alice
Stepanovskiy, Yuriy
Rosen-Wolff, Angela
Hedrich, Christian
Lee-Kirsch, MinAe
Duncan, Joseph A.
Mo, Jin Yao
Bezrodnik, Liliana
Seminario, Gisela
Caldirola, Maria Soledad
Allenspach, Eric
Torgerson, Troy R.
Finn, Laura
VanTries, Rachel
Huang, Yan
Brooks, Stephen R.
Deng, Zuoming
Goldbach-Mansky, Raphaela
ARTHRITIS & RHEUMATOLOGY, 2018, 70
[9] Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Gai, Xiaowu
Ghezzi, Daniele
Johnson, Mark A.
Biagosch, Caroline A.
Shamseldin, Hanan E.
Haack, Tobias B.
Reyes, Aurelio
Tsukikawa, Mai
Sheldon, Claire A.
Srinivasan, Satish
Gorza, Matteo
Kremer, Laura S.
Wieland, Thomas
Strom, Tim M.
Polyak, Erzsebet
Place, Emily
Consugar, Mark
Ostrovsky, Julian
Vidoni, Sara
Robinson, Alan J.
Wong, Lee-Jun
Sondheimer, Neal
Salih, Mustafa A.
Al-Jishi, Emtethal
Raab, Christopher P.
Bean, Charles
Furlan, Francesca
Parini, Rossella
Lamperti, Costanza
Mayr, Johannes A.
Konstantopoulou, Vassiliki
Huemer, Martina
Pierce, Eric A.
Meitinger, Thomas
Freisinger, Peter
Sperl, Wolfgang
Prokisch, Holger
Alkuraya, Fowzan S.
Falk, Marni J.
Zeviani, Massimo
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (03) : 482 - 495
[10] Correction: Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan syndrome
M. Tartaglia
E.L. Mehler
R. Goldberg
G. Zampino
H.G. Brunner
H. Kremer
I. van der Burgt
A.H. Crosby
A. Ion
S. Jeffery
K. Kalidas
M.A. Patton
R.S. Kucherlapati
B. Gelb
Nature Genetics, 2001, 29 : 491 - 491

← 1 2 3 4 5 →