Universität zu Köln

Krutzke, Sophia, Rietschel, Christoph and Horneff, Gerd (2020). Baricitinib in therapy of COPA syndrome in a 15-year-old girl. Eur. J. Rheumatol., 7. S. S78 - 4. SISLI: AVES. ISSN 2148-4279

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Abstract

COPA syndrome is a newly discovered hereditary immunodeficiency affecting the lung, kidneys, and joints. The mutated gene encodes the a subunit of the coatomer complex I, a protein transporter from the Golgi back to the endoplasmic reticulum. The impaired return of proteins leads to intracellular stress. The syndrome is an autoimmune and autoinflammatory disease that can be grouped among the interferonopathies. The knowledge about COPA syndrome and its treatment is still limited. In this paper, we describe an additional patient, a 15-year-old girl with rheumatoid factor-positive polyarthritis and rheumatoid nodules since the age of 2, who developed interstitial lung disease. The detected mutation c.698G>A was causing the disease. The patient presented with symmetric polyarthritis on wrists, fingers, and hip and ankle joints, with significant functional impairment, and high disease activity. Laboratory parameters demonstrated chronic inflammation, hypergamma-globulinemia, high titre ANA (antinuclear antibodies) and CCP (anti-citrullinated protein) antibodies, and rheumatoid factors. Therapies with various DMARDs (Disease Modifying Anti-Rheumatic Drugs) and biologicals failed. Upon baricitinib application, the clinical activity decreased dramatically with disappearance of joint pain and morning stiffness and significant decrease of joint swelling. A low disease activity was reached after 12 months, with complete disappearance of rheumatoid nodules. In contrast to IL-1 (interleukin-1), IL-6, and TNF (tumor necrosis factor) inhibitors, baricitinib was very successful, probably because baricitinib acts as a JAK-1/2 (janus kinase-1/2) inhibitor in the IFN alpha/beta (inteferone alpha/beta) pathway. A relatively higher dose in children is necessary. COPA syndrome represents a novel disorder of intracellular transport. Reviewing published literature on COPA syndrome, in addition to our patient, there were 31 cases further described.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Krutzke, Sophia UNSPECIFIED UNSPECIFIED UNSPECIFIED Rietschel, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Horneff, Gerd UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-345751
DOI:	10.5152/eurjrheum.2019.18177
Journal or Publication Title:	Eur. J. Rheumatol.
Volume:	7
Page Range:	S. S78 - 4
Date:	2020
Publisher:	AVES
Place of Publication:	SISLI
ISSN:	2148-4279
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language LUNG-DISEASE Multiple languages Rheumatology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/34575