Information on PFF
Basic details
Name: Periodic fever, familial, TNF-receptor-associated | Acronym: PFF
Alt. names: TNF receptor-associated periodic syndrome
Gene: TNFRSF1A | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 1999
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may manifest with sequelae such as periodic fever, pain, and rash, and medical treatment with TNF inhibitors (eg, etanercept) has been reported as effective in many individuals. Refs. PMIDs: 1402641; 9585614; 9529351; 10199409; 10412980; 11115159; 11175303; 12584543; 17360963; 19381634; 21153346; 21225694; 21378401; 21869706; 22675839; 22281876
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Recurrent fevers |
157 (85.8%) | 0 (0.0%) | 26 (14.2%) |
| 2 | Abdominal pain |
132 (72.1%) | 0 (0.0%) | 51 (27.9%) |
| 3 | Myalgia |
131 (71.6%) | 0 (0.0%) | 52 (28.4%) |
| 4 | Arthralgia |
114 (62.3%) | 0 (0.0%) | 69 (37.7%) |
| 5 | Periorbital edema |
43 (23.5%) | 0 (0.0%) | 140 (76.5%) |
| 6 | Cervical lymphadenopathy |
41 (26.0%) | 0 (0.0%) | 117 (74.1%) |
| 7 | Maculopapular exanthema |
41 (26.0%) | 0 (0.0%) | 117 (74.1%) |
| 8 | Conjunctivitis |
35 (22.2%) | 0 (0.0%) | 123 (77.9%) |
| 9 | Chronic diarrhea |
28 (17.7%) | 0 (0.0%) | 130 (82.3%) |
| 10 | Vomiting |
28 (17.7%) | 0 (0.0%) | 130 (82.3%) |
| 11 | Chronic constipation |
21 (13.3%) | 0 (0.0%) | 137 (86.7%) |
| 12 | Headaches |
17 (68.0%) | 0 (0.0%) | 8 (32.0%) |
| 13 | AA amyloidosis |
16 (10.1%) | 0 (0.0%) | 142 (89.9%) |
| 14 | Oligoarthritis |
15 (9.5%) | 0 (0.0%) | 143 (90.5%) |
| 15 | Conjunctival hyperemia |
11 (44.0%) | 0 (0.0%) | 14 (56.0%) |
| 16 | Pleuritis |
10 (40.0%) | 0 (0.0%) | 15 (60.0%) |
| 17 | Hepatomegaly |
9 (5.7%) | 0 (0.0%) | 149 (94.3%) |
| 18 | Erysipelas |
7 (4.4%) | 0 (0.0%) | 151 (95.6%) |
| 19 | Bone pain |
6 (3.8%) | 0 (0.0%) | 152 (96.2%) |
| 20 | Gastrointestinal bleeding |
3 (1.9%) | 0 (0.0%) | 155 (98.1%) |
| 21 | Myositis |
3 (1.9%) | 0 (0.0%) | 155 (98.1%) |
| 22 | Polyarthritis |
2 (1.3%) | 0 (0.0%) | 156 (98.7%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.