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PubPharm (414)
1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
enthalten in:
bioRxiv.org
| 2024
von
Matuozzo, D.
|
Talouarn, E.
|
Marchal, A.
| +115
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2
Wiskott-Aldrich Syndrome : A study on 577 patients defining the genotype as a predictive biomarker for disease severity
enthalten in:
Blood
| 2024
von
Vallée, T.
|
Glasmacher, J.
|
Buchner, H.
| +52
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3
The immunopathological landscape of human pre-TCRα deficiency : From rare to common variants
enthalten in:
Science (New York, N.Y.)
| 2024
von
Materna, M.
|
Delmonte, O.
|
Bosticardo, M.
| +96
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4
Inborn errors of immunity : A field without frontiers
enthalten in:
Immunological reviews
| 2024
von
Bucciol, G.
|
Delafontaine, S.
|
Meyts, I.
| +1
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5
Diagnosis of IRAK-4-deficiency by flow cytometric measurement of IκB-α degradation
enthalten in:
Clinical chemistry and laboratory medicine
| 2024
von
Frans, G.
|
Michiels, B.
|
Picard, C.
| +12
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6
Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2
enthalten in:
bioRxiv.org
| 2024
von
Ehlers, L.
|
Hombrouck, A.
|
Wouters, M.
| +18
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7
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome
enthalten in:
Journal of clinical immunology
| 2024
von
Mina, E.
|
Jackson, K.
|
Crawford, A.
| +14
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8
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome
enthalten in:
Journal of clinical immunology
| 2024
von
Mina, E.
|
Jackson, K.
|
Crawford, A.
| +14
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9
Restrained memory CD8
+
T cell responses favors viral persistence and elevated IgG responses in patients with severe Long COVID
enthalten in:
bioRxiv.org
| 2024
von
Rodriguez, L.
|
Tan, Z.
|
Lakshmikanth, T.
| +33
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10
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency
enthalten in:
Nature medicine
| 2024
von
Migliavacca, M.
|
Barzaghi, F.
|
Fossati, C.
| +51
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Journal of clinical immunology
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The Journal of allergy and clinical immunology
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The journal of allergy and clinical immunology
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Blood
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The Journal of experimental medicine
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Frontiers in immunology
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European journal of pediatrics
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Nature immunology
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bioRxiv.org
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Orphanet journal of rare diseases
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Current opinion in allergy and clinical immunology
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Journal of immunology (Baltimore, Md. : 1950)
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19
Adenosine Deaminase
19
EC 3.5.4.4
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primary immunodeficiency
17
Intercellular Signaling Peptides and Proteins
17
Research Support, N.I.H., Intramural
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Inborn errors of immunity
15
Multicenter Study
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immune dysregulation
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primary immunodeficiencies
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DADA2
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Immunodeficiency
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Immunoglobulin G
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Immunoglobulins
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Interferon Type I
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