Table 2.
Clinical manifestations, diagnostic criteria, and autoantibody tests for each disorder of the 14 APECED patients.
| Disease | Main clinical manifestations | Diagnostic tests | Autoantibodies |
|---|---|---|---|
| Chronic mucocutaneous candidiasis (CMC) | Chronic candida infection of mucosae, nails, esophagus | Dermatological and ORL evaluation and culture | IFNAb, ILAb |
| Chronic hypoparathyroidism (CH) | Paraesthesia, tetany, muscle cramps, Trousseau or Chvostek’s signs | Calcium, PTH, ECG, EMG ischemic test | NALP-5Ab |
| Addison’s disease (AD) | Asthenia, hyperpigmentation, hypotension, weight loss, nausea | ACTH, cortisol, renin, ACTH test, ionemia | 21OHAb, ACA |
| Primary ovarian failure | Amenorrhea less than 40 years, infertility | Estradiol, FSH, LH, anti-Müllerian hormone | StCA, 17OHAb, SCCAb, 21OHAb |
| Testicular failure | Infertility, erectile dysfunction | FSH, LH, testosterone | StCA, 17OHAb, SCCAb, 21OHAb |
| Autoimmune thyroid diseases | Clinical or subclinical hypothyroidism or hyperthyroidism | TSH, FT4, FT3, thyroid ultrasound | TPOAb, TgAb, TRAb |
| Type 1 diabetes | Polyuria, polydipsia, weight loss, coma | Glucose, C-peptide, HbA1c | ICA, GADAb, IA2Ab, ZnT8Ab |
| Pituitary deficiency | Signs/symptoms of hypothyroidism, hypogonadism, adrenal insufficiency, growth retardation | TSH, FT4, FSH, LH, estradiol, testosterone, ACTH, cortisol, HGH, IGF-1 | Pituitary Ab, ECE-2Ab |
| Atrophic gastritis/pernicious anemia | Dyspepsia, microcytic or macrocytic anemia, asthenia | Blood count, iron, ferritin, vitamin B12, pepsinogen I, gastrin, gastric biopsy | PCA, PCA+IFA |
| Autoimmune intestinal disease | Chronic diarrhea or constipation | Low serotonin levels, gastric/duodenal biopsy | TPHAb, HDAb, AADC, VillinAb, HarmoninAb |
| Celiac disease | Diarrhea, abdominal bloating or pain, weight loss, intestinal malabsorption, slow growth (in children), anemia | Duodenal biopsy | TRGAb |
| Autoimmune hepatitis | Dyspepsia, fatigue, diarrhea, hepatomegaly | AST, ALT, GGT, ALP, bilirubin, liver ultrasound with biopsy | LC1Ab, SLA-IgG, cP4501A2Ab, cP4502D6Ab, cP4502A6Ab, ANA, SMA, ANCA, ActinAb, LKMAb |
| Vitiligo | Skin depigmentation | Dermatological clinical evaluation | SOXAb, MPCAb (present only in APECED) |
| Alopecia | Areata, total or universal, hair loss | Dermatological clinical evaluation | THAb (positive only in APECED) |
| Ectodermal dystrophy | Enamel hypoplasia, nail dystrophy, keratoconjunctivitis, tympanic calcifications, cataract, punctate nail defect, sublenticular cataract | Clinical evaluation | IFNAb |
| Hypokalemia with hypertension | Hypertension, muscle cramps | Na, K, Cl | IFNAb |
| Exocrine pancreas insufficiency | Diarrhea, malabsorption | Amylase, lipase | IFNAb |
ORL, otorhinolaryngological (evaluation); ILAb, anti-interleukin Ab; NALP-5A, Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat and Pyrin Domain Containing 5 Ab; StCA, steroid cell Ab; ECE-2Ab, Endothelin Converting Enzyme 2 Ab; HDAb, histidine Ab; SOXAb, SRY-type related box Ab; MPCAb, melatonin-producing cell Ab; APECED, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; PTH, parathyroid hormone; ECG, electrocardiogram; EMG, electromyogram; ACTH, adrenocorticotropic hormone; FSH, follicle-stimulating hormone; LH, luteinizing hormone; TSH, thyroid-stimulating hormone; HbA1c, glycated hemoglobin; AST, aspartate aminotransferase; ALT, alanine aminotransferase; GGT, gamma-glutamyl transferase; ALP, alkaline phosphatase.