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1 . Academic Journal
Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry
저자
by
Scheible, Raphael
;
Kadioglu, Dennis
;
Ehl, Stephan
;
Blum, Marco
;
Boeker, Martin
, et al.
소스
JMIR Medical Informatics, Vol 8, Iss 10, p e17420 (2020)
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7 . Academic Journal
Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation
저자
by
Böhm, Svea
;
Wustrau, Katharina
;
Pachlopnik Schmid, Jana
;
Prader, Seraina
;
Ahlmann, Martina
, et al.
소스
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Blood
7 March 2024 143(10):872-881
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7 . Academic Journal
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
저자
by
Abinun, Mario
;
Abrahamsen, Tore G.
;
Albert, Michael H.
;
Almalky, Mohamed
;
Altaf, Sadaf
, et al.
소스
In
The Lancet Haematology
February 2024 11(2):e114-e126
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7 . Academic Journal
Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders
저자
by
Magerus, Aude
;
Rensing-Ehl, Anne
;
Rao, V. Koneti
;
Teachey, David T.
;
Rieux-Laucat, Frederic
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2024 153(1):67-76
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7 . Academic Journal
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing
저자
by
Rensing-Ehl, Anne
;
Lorenz, Myriam Ricarda
;
Führer, Marita
;
Willenbacher, Wolfgang
;
Willenbacher, Ella
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2024 153(1):297-308
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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
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome
저자
by
Pellé, Olivier
;
Moreno, Solange
;
Lorenz, Myriam Ricarda
;
Riller, Quentin
;
Fuehrer, Marita
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2024 153(1):203-215
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7 . Academic Journal
Gene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosis
저자
by
Dettmer-Monaco, Viviane
;
Weißert, Kristoffer
;
Ammann, Sandra
;
Monaco, Gianni
;
Lei, Lei
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2024 153(1):243-255
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7 . Academic Journal
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
저자
by
Kapp, Friedrich G.
;
Kretschmer, Stefanie
;
Beckmann, Cora C.A.
;
Wäsch, Lena
;
Molitor, Anne
, et al.
소스
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Clinical Immunology
November 2023 256
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7 . Academic Journal
Hemophagocytic lymphohistiocytosis–like hyperinflammation due to a de novo mutation in DPP9
저자
by
Wolf, Christine
;
Fischer, Hannah
;
Kühl, Jörn-Sven
;
Koss, Sarah
;
Jamra, Rami Abou
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
November 2023 152(5):1336-1344
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