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PubPharm (121)
1
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
enthalten in:
Nature immunology
| 2024
von
Oda, H.
|
Manthiram, K.
|
Chavan, P.
| +59
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2
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice
enthalten in:
Cell
| 2024
von
Momenilandi, M.
|
Lévy, R.
|
Sobrino, S.
| +70
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3
Bi-allelic loss-of-function variants in
PPFIBP1
cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications
enthalten in:
bioRxiv.org
| 2024
von
Rosenhahn, E.
|
O’Brien, T.
|
Zaki, M.
| +37
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4
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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5
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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6
Human inherited CCR2 deficiency underlies progressive polycystic lung disease
enthalten in:
Cell
| 2024
von
Neehus, A.
|
Carey, B.
|
Landekic, M.
| +69
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7
Correction : Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
enthalten in:
Genome medicine
| 2024
von
Matuozzo, D.
|
Talouarn, E.
|
Marchal, A.
| +106
ErratumFor: Genome Med. 2023 Apr 5;15(1):22. - PMID 37020259
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8
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
enthalten in:
Genome medicine
| 2024
von
Matuozzo, D.
|
Talouarn, E.
|
Marchal, A.
| +118
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9
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria
enthalten in:
Cell
| 2023
von
Bohlen, J.
|
Zhou, Q.
|
Philippot, Q.
| +55
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10
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
enthalten in:
Nature
| 2023
von
Le Voyer, T.
|
Parent, A.
|
Liu, X.
| +98
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