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- Title
Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12‐related autoinflammatory disorder—A case report.
- Authors
Hormigo, Inês; Valente Pinto, Marta; Cordeiro, Ana Isabel; Henriques, Cristina; Martins, Catarina; Parente Freixo, João; Conde, Marta; Gouveia, Catarina; Farela Neves, João
- Abstract
In conclusion, we describe a novel I NLRP12 i variant, identified in an adolescent with HLH and recurrent episodes of cold-induced rash and fever. This report expands the range of disease causing variants in the I NLRP12 i gene and further illustrates the complexity of phenotypes associated with this gene dysfunction. Systemic autoinflammatory syndromes are disorders generally characterized by recurrent episodes of fever accompanied by systemic inflammation without an identifiable infectious or autoimmune cause.[1] The nucleotide-binding leucine-rich repeat-containing receptor 12 ( I NLRP12 i ) gene is a member of the NLRP family.
- Subjects
URTICARIA; HEMOPHAGOCYTIC lymphohistiocytosis; CRYOPYRIN-associated periodic syndromes; JUVENILE diseases; SYMPTOMS
- Publication
Pediatric Allergy & Immunology, 2023, Vol 34, Issue 9, p1
- ISSN
0905-6157
- Publication type
Article
- DOI
10.1111/pai.14020