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1 . Academic Journal
Neurocognitive Impairment in Patients With Ataxia Telangiectasia and Their Unaffected Parents: Is It Similar?
저자
by
Uyar, Emel
;
Akturk, Hacer
;
Usanmaz, Sevil
;
Kiykim, Ayca
;
Tufan, Ali Evren
, et al.
소스
In
Pediatric Neurology
July 2024 156:85-90
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7 . Academic Journal
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study
저자
by
Miller, Jutta L.
;
Eshach Adiv, Orly
;
Bilgic Eltan, Sevgi
;
Yorgun Altunbas, Melek
;
Magliocco, Mary
, et al.
소스
In
The Lancet
17-23 February 2024 403(10427):645-656
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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
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond
저자
by
Sharma, Mehul
;
Suratannon, Narissara
;
Leung, Daniel
;
Baris, Safa
;
Takeuchi, Ichiro
, et al.
소스
In
Trends in Immunology
February 2024 45(2):138-153
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7 . Academic Journal
Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency
저자
by
Wilkie, Hazel
;
Das, Mrinmoy
;
Pelovitz, Tyler
;
Bainter, Wayne
;
Woods, Brian
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
December 2023
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7 . Academic Journal
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency
저자
by
Taghizade, Nigar
;
Babayeva, Royala
;
Kara, Altan
;
Karakus, Ibrahim Serhat
;
Catak, Mehmet Cihangir
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
December 2023 152(6):1634-1645
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7 . Academic Journal
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
저자
by
Labrosse, Roxane
;
Chu, Julia I.
;
Armant, Myriam A.
;
Everett, John K.
;
Pellin, Danilo
, et al.
소스
In
Blood
12 October 2023 142(15):1281-1296
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7 . Academic Journal
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
저자
by
Yakici, Nalan
;
Kreins, Alexandra Y.
;
Catak, Mehmet Cihangir
;
Babayeva, Royala
;
Erman, Baran
, et al.
소스
In
Clinical Immunology
October 2023 255
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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
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis
저자
by
Kostel Bal, Sevgi
;
Giuliani, Sarah
;
Block, Jana
;
Repiscak, Peter
;
Hafemeister, Christoph
, et al.
소스
In
Blood
31 August 2023 142(9):827-845
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