NOVEL HETEROZYGOUS RAC2 MUTATION PRESENTING AS COMBINED IMMUNODEFICIENCY

被引：0

作者：

Hsu, Amy P. ^{[1
]}

Swamydas, Muthulekha ^{[2
]}

Lionakis, Michail S. ^{[2
]}

Szabolcs, Paul ^{[3
]}

Steinberg, Harry ^{[4
]}

Bonagura, Vincent R. ^{[5
]}

Kuhns, Douglas B. ^{[6
]}

Holland, Steven M. ^{[1
]}

机构：

[1] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[2] NIAID, Fungal Pathogenesis Unit, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[3] Childrens Hosp Pittsburgh, Div Blood & Marrow Transplantat & Cellular Therap, Pittsburgh, PA 15213 USA

[4] N Shore Univ Hosp, Div Med Pulm Crit Care & Sleep Med, New Hyde Pk, NY USA

[5] Cohen Childrens Med Ctr New York, Div Allergy & Immunol, Great Neck, NY USA

[6] NCI, Leidos Biomed Res Inc, Frederick, MD 21701 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2016年 / 36卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

4576

引用

页码：298 / 298

页数：1

共 50 条

[31] Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency
Stella P. Hartono
Alexander Vargas-Hernández
Mark J. Ponsford
Ivan K. Chinn
Stephen Jolles
Keith Wilson
Lisa R. Forbes
Journal of Clinical Immunology, 2018, 38 : 753 - 756
[32] An inhibitory RAC2 mutation described in human neutrophil immunodeficiency syndrome is not present in patients with severe congenital neutropenia (Kostmann syndrome).
Tidow, N
Brandt, BH
Kasper, B
Welte, K
BLOOD, 2000, 96 (11) : 33B - 33B
[33] Role of Rac1 and Rac2 in osteoclastogenesis
Wang, Y
Glogauer, M
OSTEOPOROSIS INTERNATIONAL, 2006, 17 (06) : 963 - 963
[34] Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency
Gu, Y
Jia, BQ
Yang, FC
D'Souza, M
Harris, CE
Derrow, CW
Zheng, Y
Williams, DA
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (19) : 15929 - 15938
[35] Fatal combined immunodeficiency associated with heterozygous mutation in STAT1
Sharfe, Nigel
Nahum, Amit
Newell, Andrea
Dadi, Harjit
Ngan, Bo
Pereira, Sergio L.
Herbrick, Jo-Anne
Roifman, Chaim M.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (03) : 807 - 817
[36] Rac1 and Rac2 GTPases in haematopoiesis
Weston, VJ
Stankovic, T
BIOESSAYS, 2004, 26 (03) : 221 - 224
[37] Clinical features of a human Rac2 mutation: A complex neutrophil dysfunction disease
Kurkchubasche, AG
Panepinto, JA
Tracy, TF
Thurman, GW
Ambruso, DR
JOURNAL OF PEDIATRICS, 2001, 139 (01): : 141 - 147
[38] Biochemical and biological characterization of human RAC2 GTPase mutant associated with immunodeficiency.
Gu, Y
Jia, B
Yang, FC
D'Souza, M
Derrow, CW
Zheng, Y
Williams, DA
BLOOD, 2000, 96 (11) : 498A - 498A
[39] Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation
Ashby, Louisa
Chan, Lydia
Winterbourn, Christine
Woon, See-Tarn
Keating, Paula
Heller, Raoul
Ameratunga, Rohan
Chua, Ignatius
Hsiao, Kuang-Chih
CLINICAL & TRANSLATIONAL IMMUNOLOGY, 2024, 13 (02)
[40] A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency
Saettini, Francesco
Moratto, Daniele
Grioni, Andrea
Maitz, Silvia
Iascone, Maria
Rizzari, Carmelo
Pavan, Fabio
Spinelli, Marco
Bettini, Laura Rachele
Biondi, Andrea
Badolato, Raffaele
PEDIATRIC ALLERGY AND IMMUNOLOGY, 2018, 29 (07) : 776 - 781

← 1 2 3 4 5 →