Erschienen in:
18.12.2023 | Bild und Fall
IL-1 blocking experience in a case with Majeed syndrome diagnosed in adulthood
verfasst von:
Merve Güleç Yazır, Elif Durak Ediboğlu, Gökhan Kabadayı, Aslı Subaşıoğlu, Servet Akar
Erschienen in:
Zeitschrift für Rheumatologie
|
Ausgabe 2/2024
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Excerpt
Majeed syndrome (MJS) is a rare autosomal recessive autoinflammatory disorder characterized by chronic recurrent multifocal osteomyelitis, congenital microscopic dyserythropoietic anemia, and inflammatory dermatosis [
1]. The clinical manifestations of MJS are attributed to a mutation in
LPIN2 [
2]. Experiments on primary human and mouse macrophages revealed that
LPIN2 plays a role in regulating
MAPK activation and synthesis of pro–IL-1β, and, in addition, inhibits activation and sensitization of the purinergic P2X7 receptor and has negative impact on activation of inflammasome. Therefore, the
LPIN2 gene mutation causes activation of the NLRP3 inflammasome [
3]. In this report, we present a patient with MJS diagnosed in adulthood and describe the patient’s treatment course with an interleukin‑1 (IL-1) antagonist. …
