Information on AIADK

Basic details

Name: Autoinflammation with arthritis and dyskeratosis | Acronym: AIADK
Alt. names: NLRP1 deficiency

Gene: NLRP1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2016

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

OMIM: 617388

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Palmoplantar carcinoma involves recurrent palmoplantar, conjunctival, and corneal keratoacanthomas, and individuals have been described as having high susceptibility to malignant squamous cell carcinoma; Features of Autoinflammation with arthritis and dyskeratosis have been described as including anemia severe enough to necessitate splenectomy, and awareness may allow prompt diagnosis and management; Individuals were not reported to benefit from Vitamin A supplementation. Refs. PMIDs: 23349227; 27662089; 27965258

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

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	3 (99.9%)	0 (0.0%)
2	Follicular hyperkeratosis	3 (99.9%)	0 (0.0%)
3	Infantile onset	3 (99.9%)	0 (0.0%)
4	Palmoplantar hyperkeratosis	3 (99.9%)	0 (0.0%)
5	Polyarthritis	3 (99.9%)	0 (0.0%)
6	Recurrent fevers	3 (99.9%)	0 (0.0%)
7	Antinuclear antibodies	2 (66.7%)	1 (33.3%)
8	Growth delay	2 (66.7%)	1 (33.3%)
9	Autoimmune hemolytic anemia	1 (33.3%)	2 (66.7%)
10	Corneal neovascularization	1 (33.3%)	2 (66.7%)
11	Dry skin	1 (33.3%)	2 (66.7%)
12	Failure to thrive	1 (33.3%)	2 (66.7%)
13	Hepatomegaly	1 (33.3%)	2 (66.7%)
14	Hypereosinophilia	1 (33.3%)	2 (66.7%)
15	Increased IgA levels	1 (33.3%)	2 (66.7%)
16	Increased IgG level	1 (33.3%)	2 (66.7%)
17	Keratoconjunctivitis sicca	1 (33.3%)	2 (66.7%)
18	Laryngeal papilloma	1 (33.3%)	2 (66.7%)
19	Photophobia	1 (33.3%)	2 (66.7%)
20	Punctate keratitis	1 (33.3%)	2 (66.7%)
21	Splenomegaly	1 (33.3%)	2 (66.7%)
22	Thyroiditis	1 (33.3%)	2 (66.7%)
23	Uveitis	1 (33.3%)	2 (66.7%)

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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.