Inherited Autoinflammatory Disease with Immunodeficiency Combined with IgA Nephropathy

Abstract

The etiology of unexplained periodic fever is often complex, and hereditary factors play an important role. This article describes a 26-year-old chinese women with intermittent fever for 9 years, with 10-year history of IgA nephropathy. Her fever is relieved during pregnancy, but after a baby is born, fever reappears, accompanied by headache, gasping after activity, chest pain, abdominal pain, blood in the stool, ataxia, intermittent back erythema, skin biopsy suggests amyloidosis, the autoinflammatory PLCG2 associated antibody deficiency and immune dysregulation was diagnosed by genetic testing. The fever was gradually relieved after treatment with rilonacept.

Zusammenfassung

Die Ätiologie des ungeklärten periodischen Fiebers ist häufig komplex. Erbliche Faktoren spielen eine bedeutende Rolle. Dieser Artikel beschreibt eine 26-jährige chinesische Patientin mit intermittierendem Fieber seit 9 Jahren und 10-jähriger Vorgeschichte einer IgA-Nephropathie. Während ihrer Schwangerschaft war das Fieber rückläufig, doch nach der Geburt des Kindes trat es wieder auf, begleitet von Kopfschmerzen, keuchender Atmung nach Aktivität, Brustschmerzen, Bauchschmerzen, Blut im Stuhl, Ataxie und intermittierendem Erythem am Rücken. Eine Hautbiopsie deutete auf eine Amyloidose hin, während durch Gentests ein autoinflammatorischer PLCG2-assoziierter Antikörpermangel und eine Immunschwäche diagnostiziert wurden. Das Fieber ging nach Behandlung mit Rilonacept allmählich zurück.

Key words

fever - autoinflammatory - immunodeficiency - PLCG2 - IgA nephropathy

Schlüsselwörter

Fieber - Immunschwäche - PLCG2 - IgA-Nephropathie - autoinflammatorisch

Publikationsverlauf

Artikel online veröffentlicht:
14. Mai 2020

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