CHARACTERIZATION OF TWO NOVEL DNASE1L3 VARIANTS IN A PATIENT WITH A MONOGENIC FORM OF SYSTEMIC LUPUS ERYTHEMATOSUS

被引：0
|
作者：
Leon, A. [1 ]
Vera, Pimentel L. [1 ]
Bonner, D. [1 ]
Kohler, J. [1 ]
Reuter, C. [1 ]
Zastrow, D. [1 ]
Majcherska, M. [1 ]
Fernandez, L. [1 ]
McCormack, C. [1 ]
Marwaha, S. [1 ]
Fisher, P. [1 ]
Ashley, E. [1 ]
Maller, J. [1 ]
Hsu, J. [1 ]
Balboni, I [1 ]
Bernstein, J. [1 ]
Wheeler, M. [1 ]
Gomez-Ospina, N. [1 ]
机构：
[1] Stanford Univ, Stanford, CA USA
来源：
JOURNAL OF INVESTIGATIVE MEDICINE | 2023年 / 71卷 / 01期
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：
309
引用
收藏
页码：NP391 / NP392
页数：2
相关论文
共 50 条
  • [21] Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3 Variants: Report of Three Cases
    Volpi, Stefano
    Angelotti, Maria L.
    Palazzini, Giulia
    Antonelli, Giulia
    Ravaglia, Fiammetta
    Garibotto, Federica
    Agrusti, Anna
    Grossi, Alice
    Magnasco, Alberto
    Rossi, Giovanni M.
    Errichiello, Carmela
    Peyronel, Francesco
    Buti, Elisa
    Lodi, Lorenzo
    Ghiggeri, Gian M.
    Romagnani, Paola
    Vaglio, Augusto
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2024, 84 (06) : 791 - 797
  • [22] Monogenic lupus with ANCA associated vasculitis-phenotype and ANCA positivity due to DNASE1L3 mutations: case report and review of the literature
    Palazzini, Giulia
    Volpi, Stefano
    Ghiggeri, Gian Marco
    Peyronel, Francesco
    Errichiello, Carmela
    Vaglio, Augusto
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I608 - I608
  • [23] Monogenic lupus with ANCA associated vasculitis-phenotype and ANCA positivity due to DNASE1L3 mutations: case report and review of the literature
    Palazzini, Giulia
    Volpi, Stefano
    Ghiggeri, Gian Marco
    Peyronel, Francesco
    Errichiello, Carmela
    Vaglio, Augusto
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39
  • [24] Decreased DNase 1 activity in systemic lupus erythematosus:: Two new mutations.
    Bodaño, A
    Gonzalez, A
    Gomez-Reino, JJ
    Conde, C
    ARTHRITIS AND RHEUMATISM, 2003, 48 (09): : S656 - S656
  • [25] The deficiency of DNASE1L3 does not affect systemic sclerosis pathogenesis in two inducible murine models of the disease
    Garreau, Anne
    Santa, Pauline
    Dubois, Maxime
    Brisou, Damien
    Levionnois, Emeline
    Laurent, Paoline
    Ferriere, Amandine
    Roubertie, Anais
    Loizon, Severine
    Duluc, Dorothee
    Blanco, Patrick
    Contin-Bordes, Cecile
    Truchetet, Marie-Elise
    Sisirak, Vanja
    EUROPEAN JOURNAL OF IMMUNOLOGY, 2024, 54 (06)
  • [26] Comparative characterization of rat deoxyribonuclease 1 (Dnase1) and murine deoxyribonuclease 1-like 3 (Dnase1l3)
    Napirei, M
    Wulf, S
    Eulitz, D
    Mannherz, HG
    Kloeckl, T
    BIOCHEMICAL JOURNAL, 2005, 389 : 355 - 364
  • [27] Comparative characterization of rat deoxyribonuclease 1 (Dnase1) and murine deoxyribonuclease 1-like 3 (Dnase1l3)
    Napirei, A
    Wulf, S
    Eulitz, D
    Mannherz, HG
    Klöckl, T
    EUROPEAN JOURNAL OF CELL BIOLOGY, 2005, 84 : 72 - 73
  • [28] IDENTIFICATION OF NOVEL CANDIDATE BIOMARKERS FOR SYSTEMIC LUPUS ERYTHEMATOSUS PATIENT CHARACTERIZATION
    Sippel, V.
    Farine, H.
    Omlin, D.
    Groenen, P. M.
    Strasser, D. S.
    ANNALS OF THE RHEUMATIC DISEASES, 2015, 74 : 916 - 917
  • [29] Lupus-like phenotypes emerge from loss of macrophage derived Dnase1L3
    Infante, Angelica M.
    Engavale, Minal B.
    Keyel, Peter A.
    JOURNAL OF IMMUNOLOGY, 2023, 210 (01):
  • [30] Dnase1L3 trafficking is redirected from secretion to the nucleus in lupus-prone mice
    Abbott, Kennady N.
    Wu, Wenbo
    Shi, Guilan
    Salter, Russell
    Keyel, Peter
    JOURNAL OF IMMUNOLOGY, 2016, 196
12345