Co-existence of Blau syndrome and NAID Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case reportReportar como inadecuado




Co-existence of Blau syndrome and NAID Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Pediatric Rheumatology

, 15:57

First Online: 27 July 2017Received: 21 March 2017Accepted: 23 July 2017

Abstract

BackgroundPediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part in maintenance of immune homeostasis. Clinical form of resultant autoinflammatory condition depends on NOD2 genotype; usually patients with NOD2 defects present with Blau syndrome, NOD2-associated autoinflammatory disease NAID or Crohn’s disease.

Case presentationWe present the case of a 7-year-old girl with co-existing symptoms of two rare diseases, Blau syndrome and NAID. Overlapping manifestations of two syndromes raised a significant diagnostic challenge, until next-generation molecular test NGS identified presence of three pathogenic variants of NOD2 gene: P268S, IVS8+158, 1007 fs, and established the ultimate diagnosis.

ConclusionPresence of multiple genetical abnormalities resulted in an ambiguous clinical presentation with overlapping symptoms of Blau syndrome and NAID. Final diagnosis of autoinflammatory disease opened new therapeutic possibilities, including the use of biological treatments.

KeywordsBlau syndrome NAID Autoinflammatory disease AbbreviationsAPCAntigen-presenting cells

CVIDCommon variable immunodeficiency

EOSEarly-onset sarcoidosis

HBHemoglobin

LIMFLymphocytes

MCVMean cell volume

MRIMagnetic resonance imaging

NAIDNOD2-associated autoinflammatory disease

USSUltrasound scan

WBCWhite blood cells

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Autor: Magdalena Dziedzic - Agata Marjańska - Katarzyna Bąbol-Pokora - Anna Urbańczyk - Elżbieta Grześk - Wojciech Młynarski

Fuente: https://link.springer.com/







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