Information on APS1
Basic details
Name: Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | Acronym: APS1
Alt. names: APECED
Gene: AIRE | MOI: Autosomal inheritance | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1997
Last updated on: 2024-09-09 18:16:31 by Xiao P. Peng
Description
Individuals need life-long follow-up, as sequelae may appear later in life; Endocrine findings can include adrenocortical failure and severe hypocalcemia; Infectious complications, such as candiasis, and septicemia, are frequent, and prompt and aggressive treatment of infections may be beneficial. Refs. PMIDs: 7024719; 3496374; 2348835; 1453436; 9398840; 9398839; 9543115; 9837820; 9717837; 11018166; 11600535; 14557425; 16965330; 17539912; 19758376; 19807739; 25926518
Management
Levy et al. (2024) treated 3 APS-1 patients with ruxolitinib and followed them for at least 30 months. They noted that "tolerance was excellent, with no medical or biological adverse events. All three patients had remarkably positive responses to ruxolitinib for alopecia, nail dystrophy, keratitis, mucosal candidiasis, steroid-dependent autoimmune hepatitis, exocrine pancreatic insufficiency, renal potassium wasting, hypoparathyroidism, and diabetes insipidus. JAK inhibitors were therefore considered an effective treatment in three patients with APS-1." (PMID: 38112858)
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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 | Hypoparathyroidism |
121 (89.0%) | 0 (0.0%) | 15 (11.0%) |
| 2 | Oral candidiasis |
68 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Enamel hypoplasia |
67 (72.0%) | 0 (0.0%) | 26 (28.0%) |
| 4 | Adrenal insufficiency |
49 (72.1%) | 0 (0.0%) | 19 (27.9%) |
| 5 | Childhood onset |
39 (58.2%) | 0 (0.0%) | 28 (41.8%) |
| 6 | Alopecia |
38 (35.9%) | 0 (0.0%) | 68 (64.2%) |
| 7 | Nail dystrophy |
35 (48.6%) | 0 (0.0%) | 37 (51.4%) |
| 8 | Decreased circulating parathyroid hormone level |
23 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Malabsorption |
22 (20.8%) | 0 (0.0%) | 84 (79.3%) |
| 10 | Tympanosclerosis |
22 (32.4%) | 0 (0.0%) | 46 (67.7%) |
| 11 | Juvenile onset |
18 (41.9%) | 0 (0.0%) | 25 (58.1%) |
| 12 | Premature ovarian insufficiency |
17 (70.8%) | 0 (0.0%) | 7 (29.2%) |
| 13 | Vitiligo |
17 (15.9%) | 0 (0.0%) | 90 (84.1%) |
| 14 | Adrenocortical insufficiency |
15 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Chronic active hepatitis |
14 (29.8%) | 0 (0.0%) | 33 (70.2%) |
| 16 | Diarrhea |
14 (58.3%) | 0 (0.0%) | 10 (41.7%) |
| 17 | Recurrent fungal infections |
14 (93.3%) | 0 (0.0%) | 1 (6.7%) |
| 18 | Hypothyroidism |
13 (12.9%) | 0 (0.0%) | 88 (87.1%) |
| 19 | cholelithiasis |
11 (32.4%) | 0 (0.0%) | 23 (67.7%) |
| 20 | Asplenia |
10 (40.0%) | 0 (0.0%) | 15 (60.0%) |
| 21 | Neonatal onset |
9 (33.3%) | 0 (0.0%) | 18 (66.7%) |
| 22 | Antiparietal cell antibody positivity |
8 (27.6%) | 0 (0.0%) | 21 (72.4%) |
| 23 | Atrophic gastritis |
8 (27.6%) | 0 (0.0%) | 21 (72.4%) |
| 24 | Cataract |
8 (28.6%) | 0 (0.0%) | 20 (71.4%) |
| 25 | Keratoconjunctivitis |
8 (27.6%) | 0 (0.0%) | 21 (72.4%) |
| 26 | anti-TPO antibodies |
7 (28.0%) | 0 (0.0%) | 18 (72.0%) |
| 27 | Mucocutaneous candidiasis |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 28 | Anti-21-hydroxylase antibody positivity |
5 (41.7%) | 0 (0.0%) | 7 (58.3%) |
| 29 | Pigmentary retinopathy |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 30 | Reduced visual acuity |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 31 | Anti-GAD65 antibody |
3 (14.3%) | 0 (0.0%) | 18 (85.7%) |
| 32 | Anti-thyroglobulin antibody positivity |
3 (17.7%) | 0 (0.0%) | 14 (82.4%) |
| 33 | Constriction of peripheral visual field |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 34 | Elevated TSH levels |
3 (23.1%) | 0 (0.0%) | 10 (76.9%) |
| 35 | Graves disease |
3 (15.8%) | 0 (0.0%) | 16 (84.2%) |
| 36 | Onychomycosis |
3 (17.7%) | 0 (0.0%) | 14 (82.4%) |
| 37 | Hypogonadism |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 38 | Nail pits |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 39 | Seizures |
2 (13.3%) | 0 (0.0%) | 13 (86.7%) |
| 40 | Septicaemia |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 41 | Type I diabetes mellitus |
2 (13.3%) | 0 (0.0%) | 13 (86.7%) |
| 42 | Alopecia universalis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 43 | Anti-endomysial antibody positivity |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 44 | Anti-reticulin antibody positivity |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 45 | Anti-side-chain cleavage enzyme antibody positivity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 46 | Anti-thyroid-stimulating hormone receptor antibody positivity |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 47 | Celiac disease |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 48 | Chronic sinusitis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 49 | Hypocalcemic tetany |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 50 | Spleen hypoplasia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 51 | Infantile onset |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 52 | Iridocyclitis |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 53 | Nasal polyps |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 54 | Nephrocalcinosis |
1 (6.7%) | 0 (0.0%) | 14 (93.3%) |
| 55 | Pancreatitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 56 | Patchy alopecia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 57 | Recurrent otitis media |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
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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.