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1 . Academic Journal
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis
저자
by
Nurmi, Katariina
;
Silventoinen, Kristiina
;
Keskitalo, Salla
;
Rajamäki, Kristiina
;
Kouri, Vesa-Petteri
, et al.
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Cell Reports Medicine
16 April 2024 5(4)
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7 . Academic Journal
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
저자
by
Fischer, Marco
;
Olbrich, Peter
;
Hadjadj, Jérôme
;
Aumann, Volker
;
Bakhtiar, Shahrzad
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2024 153(1):275-286
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7 . Academic Journal
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
저자
by
Abbott, Jordan K.
;
Aldave Becerra, Juan Carlos
;
Allenspach, Eric J.
;
Assing, Kristian
;
Atkinson, T. Prescott
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2024 153(1):230-242
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7 . Academic Journal
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
저자
by
Seidel, Markus G.
;
Seppänen, Mikko R.J.
;
Gennery, Andrew
;
Kanariou, Maria G.
;
Tantou, Sofia
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
October 2023 152(4):984-996
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7 . Academic Journal
Low and high serum IgG associates with respiratory infections in a young and working age population
저자
by
Holma, Pia
;
Pesonen, Paula
;
Karjalainen, Minna K.
;
Järvelin, Marjo-Riitta
;
Väyrynen, Sara
, et al.
소스
In
eBioMedicine
August 2023 94
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7 . Academic Journal
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation
저자
by
Masle-Farquhar, Etienne
;
Jackson, Katherine J.L.
;
Peters, Timothy J.
;
Al-Eryani, Ghamdan
;
Singh, Mandeep
, et al.
소스
In
Immunity
13 December 2022 55(12):2386-2404
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7 . Academic Journal
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
저자
by
Boztug, Kaan
;
Brunner, Juergen
;
Demel, Ulrike F.
;
Förster-Waldl, Elisabeth
;
Gasteiger, Lukas M.
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
November 2021 148(5):1332-1341
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7 . Academic Journal
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
저자
by
Tesch, Victoria Katharina
;
Abolhassani, Hassan
;
Shadur, Bella
;
Zobel, Joachim
;
Mareika, Yuliya
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
May 2020 145(5):1452-1463
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7 . Academic Journal
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
저자
by
Göös, Helka
;
Fogarty, Christopher L.
;
Sahu, Biswajyoti
;
Plagnol, Vincent
;
Rajamäki, Kristiina
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
November 2019 144(5):1364-1376
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7 . Academic Journal
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae
저자
by
Tuovinen, Elina A.
;
Kuismin, Outi
;
Soikkonen, Leila
;
Martelius, Timi
;
Kaustio, Meri
, et al.
소스
In
Clinical Immunology
January 2023 246
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