Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC)
NLRC4-GOF mutations can be associated with autoinflammation with diverse symptoms. Given the rarity of the disease and the possibility of new mutations being identified, the existence of a phenotype/genotype correlation has yet to be thoroughly investigated. The variety in manifestations and severity spectrum mandates a variety of treatments. Adalimumab has shown favorable outcomes in our AIFEC cases.
Authors
- Razieh Sangsari (ORCID: https://orcid.org/0000-0002-4496-1108)
- Kayvan Mirnia (ORCID: https://orcid.org/0000-0002-2974-6362)
- Nima Parvaneh (ORCID: https://orcid.org/0000-0002-3397-9716)
- Vahid Ziaee (ORCID: https://orcid.org/0000-0003-4648-3573)
- Maryam Saeedi
- Farhad Salehzadeh (ORCID: https://orcid.org/0000-0001-5539-4404)
- Mohammad Shahrooei (ORCID: https://orcid.org/0000-0002-4974-3441)
- Pejman Rohani (ORCID: https://orcid.org/0000-0002-4208-8130)
- Mehri Ayati (ORCID: https://orcid.org/0000-0001-8394-1786)
- Kosar Asna Ashari
Institutions
- Ardabil University of Medical Sciences (IR)
- IEEE Computer Society (US)
- Children's Medical Center (IR)
- Semnan University of Medical Sciences (IR)
- Tehran University of Medical Sciences (IR)
- KU Leuven (BE)
Publication Details
- Journal
- Pediatric Rheumatology
- Published
- 2024-10-18
- DOI
- https://doi.org/10.1186/s12969-024-01020-z
- Citations
- 6
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.40