相似文献
1
Human inborn errors of immunity: An expanding universe.
Sci Immunol. 2020 Jul 10;5(49). doi: 10.1126/sciimmunol.abb1662.
2
Lessons learned from the study of human inborn errors of innate immunity.
J Allergy Clin Immunol. 2019 Feb;143(2):507-527. doi: 10.1016/j.jaci.2018.07.013. Epub 2018 Aug 1.
3
Recent human genetic errors of innate immunity leading to increased susceptibility to infection.
Curr Opin Immunol. 2020 Feb;62:79-90. doi: 10.1016/j.coi.2019.12.002. Epub 2020 Jan 11.
4
Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity.
Front Immunol. 2019 Oct 21;10:2475. doi: 10.3389/fimmu.2019.02475. eCollection 2019.
5
Human inborn errors of immunity to herpes viruses.
Curr Opin Immunol. 2020 Feb;62:106-122. doi: 10.1016/j.coi.2020.01.004. Epub 2020 Jan 31.
6
Human inborn errors of immunity underlying superficial or invasive candidiasis.
Hum Genet. 2020 Jun;139(6-7):1011-1022. doi: 10.1007/s00439-020-02141-7. Epub 2020 Mar 2.
7
[Genetics of inborn errors of immunity].
Z Rheumatol. 2022 May;81(4):328-331. doi: 10.1007/s00393-022-01183-8. Epub 2022 Mar 13.
8
[Interpretation of the classification of human inborn errors of immunity (2019 edition)].
Zhonghua Er Ke Za Zhi. 2020 Aug 2;58(8):624-627. doi: 10.3760/cma.j.cn112140-20200218-00099.
9
Autoinflammatory diseases (AID).
Klin Padiatr. 2014 May;226(3):133-42. doi: 10.1055/s-0034-1366987. Epub 2014 May 12.
10
Inborn errors of immunity to infection: the rule rather than the exception.
J Exp Med. 2005 Jul 18;202(2):197-201. doi: 10.1084/jem.20050854.
引用本文的文献
1
Cytokine signaling defects in primary atopic diseases-an updated review.
Front Allergy. 2025 Jul 1;6:1617714. doi: 10.3389/falgy.2025.1617714. eCollection 2025.
2
Immunological dysfunction of children with severe parapneumonic effusion.
Front Pediatr. 2025 Jun 27;13:1547146. doi: 10.3389/fped.2025.1547146. eCollection 2025.
3
Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit.
Sci Rep. 2025 Jul 1;15(1):22170. doi: 10.1038/s41598-025-02870-7.
4
Inborn errors of immunity presenting with lymphoproliferation: lessons from a case series.
Ann Hematol. 2025 Jun 24. doi: 10.1007/s00277-025-06456-1.
5
A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists.
Front Immunol. 2025 Jun 5;16:1597635. doi: 10.3389/fimmu.2025.1597635. eCollection 2025.
6
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Sci Rep. 2025 May 29;15(1):18830. doi: 10.1038/s41598-025-03492-9.
7
International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders.
Pediatr Rheumatol Online J. 2025 May 14;23(1):51. doi: 10.1186/s12969-025-01109-z.
8
Concomitant autoimmunity and late cancers in adult-onset immunodeficiency due to neutralizing anti-IFN-γ autoantibodies.
Front Immunol. 2025 Apr 17;16:1526439. doi: 10.3389/fimmu.2025.1526439. eCollection 2025.
9
Identifying genetic errors of immunity due to mosaicism.
J Exp Med. 2025 May 5;222(5). doi: 10.1084/jem.20241045. Epub 2025 Apr 15.
10
In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.
Clin Exp Immunol. 2025 Jan 21;219(1). doi: 10.1093/cei/uxaf016.
本文引用的文献
1
CRISPR-based gene editing enables gene repair in IPEX patient cells.
Sci Adv. 2020 May 6;6(19):eaaz0571. doi: 10.1126/sciadv.aaz0571. eCollection 2020 May.
2
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
J Exp Med. 2020 Jun 1;217(6). doi: 10.1084/jem.20191804.
3
Inherited human IFN-γ deficiency underlies mycobacterial disease.
J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460.
4
PAX1 is essential for development and function of the human thymus.
Sci Immunol. 2020 Feb 28;5(44). doi: 10.1126/sciimmunol.aax1036.
5
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.
J Exp Med. 2020 May 4;217(5). doi: 10.1084/jem.20192319.
6
Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity.
Hum Genet. 2020 Jun;139(6-7):911-918. doi: 10.1007/s00439-020-02127-5. Epub 2020 Feb 10.
7
Mendelian susceptibility to mycobacterial disease: recent discoveries.
Hum Genet. 2020 Jun;139(6-7):993-1000. doi: 10.1007/s00439-020-02120-y. Epub 2020 Feb 5.
8
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17.
9
Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection.
Blood. 2020 Feb 27;135(9):644-655. doi: 10.1182/blood.2019000928.
10
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
N Engl J Med. 2020 Jan 16;382(3):256-265. doi: 10.1056/NEJMoa1905633.
Zotero 插件