Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK

0556047 - ÚMG 2022 RIV NL eng J - Journal Article
Kanderová, V. - Borna, Šimon - Králová, Jarmila - Novák, Petr - Brdička, Tomáš - Lebl, J. … Total 30 authors
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
Journal of Allergy and Clinical Immunology-In Practice. S0091-6749, č. 21 (2021), č. článku 01395-6. ISSN 2213-2198. E-ISSN 2213-2201
R&D Projects: GA MŠMT(CZ) LQ1604; GA MŠMT(CZ) LM2018129; GA MŠMT(CZ) EF16_013/0001775; GA MŠMT LO1419; GA MŠMT(CZ) ED1.1.00/02.0109
Institutional support: RVO:68378050 ; RVO:61388971
Keywords : SRC-family kinase * autoinflammation * cutaneous vasculitis * hematopoietic cell kinase * inborn error of immunity * inflammatory cytokines * pulmonary hemorrhage * reactive oxygen species * ruxolitinib
OECD category: Biochemistry and molecular biology
Impact factor: 11.022, year: 2021
Method of publishing: Limited access
https://www.jacionline.org/article/S0091-6749(21)01395-6/fulltext

Inborn errors of immunity are genetic disorders characterized by various degrees of immune dysregulation that can manifest as immune deficiency, autoimmunity, or autoinflammation. The routine use of next-generation sequencing in the clinic has facilitated the identification of an ever-increasing number of inborn errors of immunity, revealing the roles of immunologically important genes in human pathologies. However, despite this progress, treatment is still extremely challenging.
Permanent Link: http://hdl.handle.net/11104/0330424