Information on AIFEC

Basic details

Name: Autoinflammation with infantile enterocolitis | Acronym: AIFEC
Alt. names: macrophage activatingsyndrome | NLRC4-MAS

Gene: NLRC4 | MOI: Autosomal dominant | Mechanism of action: Gain of Function

No. of cases in DB: 0 | First reported in: 2014

Last updated on: 2023-02-28 16:41:18 by

OMIM: 616050

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

In Autoinflammation with infantile enterocolitis, individuals present with recurrent autoinflammatory manifestations in infancy, and treatment with IL1R antagonists has been described as beneficial (decreased frequency of flares, corticosteroid requirements, and clinical and lab severity); In Familial cold autoinflammatory syndrome 4, manifestations frequently resolve without treatments, though analgesics may be helpful related to joint pain. Refs. PMIDs: 25217959; 25217960; 25385754

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	Unreported
1	Elevated C-reactive protein	4 (99.9%)	0 (0.0%)
2	Hyperferritinemia	4 (99.9%)	0 (0.0%)
3	Failure to thrive	3 (99.9%)	0 (0.0%)
4	Neonatal onset	3 (99.9%)	0 (0.0%)
5	Recurrent fevers	3 (99.9%)	0 (0.0%)
6	Hypoalbuminemia	2 (66.7%)	1 (33.3%)
7	Reduced natural killer cell activity	2 (66.7%)	1 (33.3%)
8	Reduced NK cell number	2 (66.7%)	1 (33.3%)
9	Secretory diarrhea	2 (66.7%)	1 (33.3%)
10	short stature	2 (66.7%)	1 (33.3%)
11	Anemia	1 (99.9%)	0 (0.0%)
12	Arthralgia	1 (33.3%)	2 (66.7%)
13	Diffuse alveolar hemorrhage	1 (33.3%)	2 (66.7%)
14	Disseminated intravascular coagulation	1 (33.3%)	2 (66.7%)
15	Fatigue	1 (99.9%)	0 (0.0%)
16	Feeding difficulties in infancy	1 (99.9%)	0 (0.0%)
17	Fever	1 (99.9%)	0 (0.0%)
18	Meningitis	1 (33.3%)	2 (66.7%)
19	Myalgia	1 (33.3%)	2 (66.7%)
20	Pancytopenia	1 (33.3%)	2 (66.7%)
21	Skin rash	1 (33.3%)	2 (66.7%)
22	Splenomegaly	1 (99.9%)	0 (0.0%)
23	Thrombocytopenia	1 (99.9%)	0 (0.0%)
24	Urticaria	1 (99.9%)	0 (0.0%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

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