This work is licensed under a Table 1.
Clinical findings in patients with APS1 (n = 22).
| Characteristic | Median (range) or n (%) | Comments |
|---|---|---|
| Age (years) | 14 (0.5–30) | |
| Age at diagnosis (years) | 3.5 (0.1–17) | |
| Duration of illness (years) | 9.4 (0.5–29) | |
| Consanguinity | 10 (53%) | |
| Initial manifestationa: | ||
| Mucocutaneous candidiasis (MCC) | 13 (59) | Two patients had 3 manifestations each (HT, T1DM, diarrhoea; MCC, PAI, AIH) |
| Hypoparathyroidism (HP) | 6 (27) | |
| Primary adrenal insufficiency (PAI) | 3 (14) | |
| Autoimmune hepatitis (AIH) | 2 (9) | 3 patients had 2 manifestations each: MCC, HP (n = 2); HP, PAI (n = 1) |
| Type 1 diabetes mellitus (T1DM) | 1 (4.5) | |
| Primary hypothyroidism (HT) | 1 (4.5) | |
| Diarrhoea | 1 (4.5) | |
| Age at diagnosis (years): | ||
| MCC | 5 (0.1–19) | |
| HP | 5 (0.5–20) | |
| PAI | 11 (5–17) | |
| Any 2 major manifestations | 8.5 (0.5–17) | |
| All 3 major manifestations | 13 (7–20) | |
| Overall frequency: | ||
| MCC | 21 (96) | |
| HP | 20 (91) | |
| PAI | 12 (55) | |
| All 3 major manifestations | 9 (41) | |
| No. of manifestations/patient | 5 (2––11) | |
| Associated disorders: | ||
| HP | 5 (23) | Unusual manifestations: facial dysmorphism (2 patients each); ptosis, sinusitis, nasal polyposis, buphthalmos, pigmented retinal dystrophy (one patient each) |
| Primary ovarian insufficiencyb | 3/5 (60) | |
| Hypogonadotropic hypogonadism | 1 (4.5) | |
| T1DM | 2 (9) | |
| AIH | 2 (9) | |
| Diarrhoea/obstipation | 6 (27) | |
| Anaemia | 7 (32) | 4/7 patients with anaemia were PCA positive |
| Vitamin B12 deficiency | 3/14 (21) | |
| Enamel hypoplasiac | 11 (61) | |
| Nail dystrophyc | 4 (22) | No patient had oral or oesophageal carcinoma, primary testicular failure or renal tubular disorder |
| Alopecia | 6 (27) | |
| Vitiligo | 6 (27) | |
| Urticarial rash | 2 (9) | |
| Keratoconjunctivitis | 2 (9) | |
| Sicca syndrome | 2 (9) | |
| Pigmented retinal dystrophy | 1 (4.5) | |
| Pneumonitis | 1 (4.5) | |
| Hyposplenia | 1 (4.5) | |
| IFN-α antibody | 19/20 (95) | Absent in 1 asymptomatic infant |
| IL-22 antibody | 17/19 (89) | Absent in 2 patients with MCC |
| Other antibodies: | ||
| TPO/TMA | 7/23 (30) | LKM and CYP1A2 antibody absent in all patients; |
| 21OH | 11 (58) | |
| SCC | 9 (47) | |
| Parietal cell | 7/21 (33) | TGM4 antibody present only in post-pubertal males; no patient with GAD antibody had T1DM |
| GAD | 6/17 (35) | |
| IA2 | 1 (5) | |
| TPH | 9 (47) | |
| TGM4 | 4 (21) | |
| BP1FB1 | 2 (10) | |
| KCNRG | 1 (5) | |
| Mortality: | ||
| Frequency | 6 (26%) | Septicaemia (n = 2), adrenal crisis (n = 2), hepatic failure (n = 1), unexplained (n = 1) |
| Age at death | 5 (3–23) |
Frequency of clinical manifestations calculated for 22 symptomatic patients; antibodies were measured in 19 subjects unless mentioned otherwise.
Three patients had two manifestations at initial presentation; bpost-pubertal females only; cenamel hypoplasia and nail pitting were accurately identified in 18 subjects.
TPO: thyroid peroxidase antibody; 21-OH: 21-hydroxylase antibody; SCC: side-chain cleavage antibody; PCA: parietal cell antibody; IFN-α: interferon alpha; IL-22: interleukin-22; TMA: thyroid microsomal antibody; GAD: glutamic acid decarboxylase; TPH: tryptophan hydroxylase; cytochrome P4501A2 (CYP1A2), potassium channel regulator (KCNRG); bacterial/permeability-increasing fold-containing B1 (BP1FB1); transglutaminase 4 (TGM4); LKM: liver/ kidney/ microsomal type 1.