Concepedia

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

Fahad Alsohime, Marta Martín-Fernández, Mohamad‐Hani Temsah, Majed Alabdulhafid, Tom Le Voyer, Malak Alghamdi, Xueer Qiu, Najla Alotaibi, Areej Alkahtani, Sofija Buta,

New England Journal of Medicine · 2020 · 108 citations · 13 references

DOIFull text

Open access

Concepts

Abstract

. The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).

References

13

The Denver II: A Major Revision and Restandardization of the Denver Developmental Screening Test

William K. Frankenburg, Josiah B. Dodds, P. Archer et al. · PEDIATRICS · 1992 · 1.1K citations

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Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Xianqin Zhang, Dusan Bogunovic, Béatrice Payelle‐Brogard et al. · Nature · 2014 · 566 citations · Full text

, , +10

UBP43 (USP18) Specifically Removes ISG15 from Conjugated Proteins

Michael P. Malakhov, Oxana A. Malakhova, Keun Il Kim et al. · Journal of Biological Chemistry · 2002 · 527 citations · Full text

, , +15

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Aziz Bousfiha, Leïla Jeddane, Capucine Pïcard et al. · Journal of Clinical Immunology · 2017 · 517 citations · Full text

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UBP43 is a novel regulator of interferon signaling independent of its ISG15 isopeptidase activity

Oxana A. Malakhova, Keun I I Kim, Jiann-Kae Luo et al. · The EMBO Journal · 2006 · 427 citations · Full text

, , +14