Diagnostic challenges in Blau syndrome: case report of pediatric patient with confirmed NOD2 gene mutation

Saniya I. Valieva , Seda Kh. Kurbanova , Anna S. Sologub , Ivan R. Gaziev , Dmitry Yu. Ovsyannikov

For citation:

Abstract

A clinical case of an infant patient with orphan autoinflammatory syndrome, Blau syndrome, is presented. The issues of pathogenesis, genetics, clinical symptoms, laboratory and instrumental characteristics, as well as management tactics for patients with this pathology are considered.
The analysis of the presented clinical observation illustrates the difficulties of diagnosis and therapy of Blau syndrome.
Keywords: Blau syndrome, autoinflammatory diseases, genetics, children.

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For citation:Valieva S.I., Kurbanova S.Kh., Sologub A.S., Gaziev I.R., Ovsyannikov D.Yu. Diagnostic challenges in Blau syndrome: case report of pediatric patient with confirmed NOD2 gene mutation. Clinical review for general practice. 2025; 6 (11): 27–33 (In Russ.). DOI: 10.47407/kr2025.6.11.00707

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Clinical review for general practice