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Article

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.

International journal of immunogenetics - 1 Apr 2026

Bouramtane Abdelhamid, Elmakhzen Badreddine, Elmouhi Hinde, Ahakoud Mohamed, Bouguenouch Laila, Ouldim Karim, Askander Omar

Abstract excerpt

Familial cold autoinflammatory syndrome 2 is a rare autoinflammatory disorder caused by mutations in the NLRP12 gene, characterized by recurrent fever, arthralgia and rash triggered by cold exposure. This case report presents a 9-year-old boy with intellectual disability, microcephaly and skin lesions, where genetic testing revealed heterozygous pathogenic variants in both KIF11 (NM_004523.4:c.2304_2305del) and...

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Source

Identifiers

PMID: 41261519
DOI: 10.1111/iji.70028

Genes

NLRP12
KIF11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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