Periodic Fever Syndrome (PFS)
Conditions
Interventions
Compound heterozygous NLRP12 mutations (Trp581*/Arg459Lys) plus MEFV P369S variant:None
Sponsors
Zhejiang Provincial Hospital of TCM
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Patients with a clinical diagnosis of periodic fever syndrome, defined as recurrent fever episodes (peak temperature =38.5°C, lasting 1–7 days, occurring every 2–12 weeks), accompanied by at least one of the following symptoms: rash, arthralgia/arthritis, abdominal pain, lymphadenopathy, or myalgia; 2.Confirmation by whole-exome sequencing and family-based Sanger validation of at least one of the following three mutations: NLRP12 c.1742G>A (p.Trp581*) NLRP12 c.1376G>A (p.Arg459Lys) MEFV c.1105C>T (p.Pro369Ser) with the proband carrying both NLRP12 mutations (compound heterozygous) together with the MEFV mutation; 3.Legal guardians (parents) and adult family members (e.g., younger brother) willing to provide peripheral blood samples for genetic validation and able to give written informed consent; 4.Availability of complete past medical records (including laboratory results, imaging studies, and treatment history);
Exclusion criteria
Exclusion criteria: 1.A confirmed diagnosis of other types of periodic fever syndromes, including: Familial Mediterranean fever (FMF) with typical monogenic pathogenic variants Mevalonate kinase deficiency (MKD/HIDS) TNF receptor-associated periodic syndrome (TRAPS) Cryopyrin-associated periodic syndrome (CAPS); 2.Fever clearly attributed to infectious diseases (e.g., chronic Epstein-Barr virus infection, tuberculosis, brucellosis), malignancies (e.g., lymphoma, leukemia), or autoimmune diseases (e.g., systemic lupus erythematosus, juvenile idiopathic arthritis) based on clinical and laboratory evaluation; 3.Absence of any of the three specified mutations (NLRP12 Trp581*, NLRP12 Arg459Lys, MEFV P369S) on genetic testing; 4.Inability to obtain informed consent from legal guardians or the patient him/hersel; 5.Severely incomplete clinical data that precludes systematic analysis;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Peak body temperature; | — |
Secondary
| Measure | Time frame |
|---|---|
| Cytokines (IL-1ß, IL-6, TNF-a, etc.);NF-?B relative activity;Infection screening (EBV, CMV, TB);Frequency of fever episodes;NLRP12 protein expression level;Antinuclear antibody;Erythrocyte sedimentation rate;C-reactive protein;Percentage of ASC speck?positive cells;Duration of fever episode;Serum amyloid A; | — |
Countries
China
Contacts
Public ContactXianfu Sheng
Zhejiang Provincial Hospital of TCM
Outcome results
None listed