Demographic, Clinical, Serological, and Genetic Data of the Various Types of AP
| AP (ORPHA: 282196) Subtypes . | Juvenile I (ORPHA: 3453) . | Adult . | ||
|---|---|---|---|---|
| II (ORPHA:3143) . | III (ORPHA:227982) . | IV (ORPHA:227990) . | ||
| Prevalence | 1:100,000 | 1:20,000 | ||
| Sex ratio (male/female) | 3:4 | 1:3 | ||
| Onset | Childhood | Adulthood | ||
| Endocrine disorders / manifestations | Hypoparathyroidism | AD | AITD | Hypogonadism |
| Hypogonadism | Hypoparathyroidism | T1D | Hypoparathyroidism | |
| Adrenal failure | AITD | Hypogonadism | Hypopituitarism | |
| T1D | AITD | |||
| T1D | ||||
| Non - endocrine disorders / manifestations | Candidiasis | Autoimmune gastritis | Autoimmune gastritis | Autoimmune gastritis |
| Moniliasis | Celiac disease | Pernicious anemia | Pernicious anemia | |
| Ectodermal dystrophy | Inflammatory bowel disease | Celiac disease | Celiac disease | |
| Enamel hypoplasia | Autoimmune pancreatitis | Inflammatory bowel disease | Inflammatory bowel disease | |
| Keratitis | Vitiligo | Autoimmune pancreatitis | Autoimmune pancreatitis | |
| Hyposplenism | Alopecia | Autoimmune hepatitis | Primary biliary cirrhosis | |
| Tubulointerstitial nephritis | Urticaria | Primary biliary cirrhosis | Vitiligo | |
| Psoriasis | Vitiligo | Alopecia | ||
| Rheumatoid arthritis | Alopecia | Urticaria | ||
| Urticaria | Pemphigus | |||
| Psoriasis | Psoriasis | |||
| Neurodermitis | Neurodermitis | |||
| Rheumatoid arthritis | Myasthenia gravis | |||
| Systemic lupus erythematosus | Sicca/Sjögren syndrome | |||
| Myasthenia gravis | ||||
| Sicca/Sjögren-syndrome | ||||
| Inheritance | Monogenic autosomal recessive transmission | Polygenic | ||
| HLA haplotypes / AIRE gene | AIRE gene, autosomal recessive and dominant X-linked, FOXP3 | DRB1*04:04-DQA1*03:01-DQB1*03:02 | DRB1*04:01-DQA1*03:01-DQB1*03:02 | HLA-DRB1*03:01-DQA1*05:01-DQB1*02:01 |
| Single nucleotide polymorphisms | PTPN22+1858 C/T (rs2476601), CTLA-4 C/T60 (rs3087243), Bsm I (rs1544410), Aps I (rs7975232), Taq I (rs731236), IL2-Ra CD25 (rs10795791), TNF-α -308 (rs1800629) | |||
| Auto-antigens | CaSR | 21-OH | TSH-R | 17-OH |
| 17-OH | CaSR | TPO | CaSR | |
| 21-OH | TSH-R | Tg | TSH-R | |
| TPO | GAD | TPO | ||
| Tg | Insulin | Tg | ||
| GAD | IA-2 | GAD | ||
| Insulin | Islet cell | Insulin | ||
| IA-2 | ZnT8 | IA-2 | ||
| Islet cell | Islet cell | |||
| ZnT8 | ZnT8 | |||
| AP (ORPHA: 282196) Subtypes . | Juvenile I (ORPHA: 3453) . | Adult . | ||
|---|---|---|---|---|
| II (ORPHA:3143) . | III (ORPHA:227982) . | IV (ORPHA:227990) . | ||
| Prevalence | 1:100,000 | 1:20,000 | ||
| Sex ratio (male/female) | 3:4 | 1:3 | ||
| Onset | Childhood | Adulthood | ||
| Endocrine disorders / manifestations | Hypoparathyroidism | AD | AITD | Hypogonadism |
| Hypogonadism | Hypoparathyroidism | T1D | Hypoparathyroidism | |
| Adrenal failure | AITD | Hypogonadism | Hypopituitarism | |
| T1D | AITD | |||
| T1D | ||||
| Non - endocrine disorders / manifestations | Candidiasis | Autoimmune gastritis | Autoimmune gastritis | Autoimmune gastritis |
| Moniliasis | Celiac disease | Pernicious anemia | Pernicious anemia | |
| Ectodermal dystrophy | Inflammatory bowel disease | Celiac disease | Celiac disease | |
| Enamel hypoplasia | Autoimmune pancreatitis | Inflammatory bowel disease | Inflammatory bowel disease | |
| Keratitis | Vitiligo | Autoimmune pancreatitis | Autoimmune pancreatitis | |
| Hyposplenism | Alopecia | Autoimmune hepatitis | Primary biliary cirrhosis | |
| Tubulointerstitial nephritis | Urticaria | Primary biliary cirrhosis | Vitiligo | |
| Psoriasis | Vitiligo | Alopecia | ||
| Rheumatoid arthritis | Alopecia | Urticaria | ||
| Urticaria | Pemphigus | |||
| Psoriasis | Psoriasis | |||
| Neurodermitis | Neurodermitis | |||
| Rheumatoid arthritis | Myasthenia gravis | |||
| Systemic lupus erythematosus | Sicca/Sjögren syndrome | |||
| Myasthenia gravis | ||||
| Sicca/Sjögren-syndrome | ||||
| Inheritance | Monogenic autosomal recessive transmission | Polygenic | ||
| HLA haplotypes / AIRE gene | AIRE gene, autosomal recessive and dominant X-linked, FOXP3 | DRB1*04:04-DQA1*03:01-DQB1*03:02 | DRB1*04:01-DQA1*03:01-DQB1*03:02 | HLA-DRB1*03:01-DQA1*05:01-DQB1*02:01 |
| Single nucleotide polymorphisms | PTPN22+1858 C/T (rs2476601), CTLA-4 C/T60 (rs3087243), Bsm I (rs1544410), Aps I (rs7975232), Taq I (rs731236), IL2-Ra CD25 (rs10795791), TNF-α -308 (rs1800629) | |||
| Auto-antigens | CaSR | 21-OH | TSH-R | 17-OH |
| 17-OH | CaSR | TPO | CaSR | |
| 21-OH | TSH-R | Tg | TSH-R | |
| TPO | GAD | TPO | ||
| Tg | Insulin | Tg | ||
| GAD | IA-2 | GAD | ||
| Insulin | Islet cell | Insulin | ||
| IA-2 | ZnT8 | IA-2 | ||
| Islet cell | Islet cell | |||
| ZnT8 | ZnT8 | |||
Abbreviations: 17-OH, 17-hydroxylase; IA-2, tyrosine-phosphatase; Tg, thyroglobulin; TSH-R, TSH receptor; ZnT8, zinc transporter 8.
Demographic, Clinical, Serological, and Genetic Data of the Various Types of AP
| AP (ORPHA: 282196) Subtypes . | Juvenile I (ORPHA: 3453) . | Adult . | ||
|---|---|---|---|---|
| II (ORPHA:3143) . | III (ORPHA:227982) . | IV (ORPHA:227990) . | ||
| Prevalence | 1:100,000 | 1:20,000 | ||
| Sex ratio (male/female) | 3:4 | 1:3 | ||
| Onset | Childhood | Adulthood | ||
| Endocrine disorders / manifestations | Hypoparathyroidism | AD | AITD | Hypogonadism |
| Hypogonadism | Hypoparathyroidism | T1D | Hypoparathyroidism | |
| Adrenal failure | AITD | Hypogonadism | Hypopituitarism | |
| T1D | AITD | |||
| T1D | ||||
| Non - endocrine disorders / manifestations | Candidiasis | Autoimmune gastritis | Autoimmune gastritis | Autoimmune gastritis |
| Moniliasis | Celiac disease | Pernicious anemia | Pernicious anemia | |
| Ectodermal dystrophy | Inflammatory bowel disease | Celiac disease | Celiac disease | |
| Enamel hypoplasia | Autoimmune pancreatitis | Inflammatory bowel disease | Inflammatory bowel disease | |
| Keratitis | Vitiligo | Autoimmune pancreatitis | Autoimmune pancreatitis | |
| Hyposplenism | Alopecia | Autoimmune hepatitis | Primary biliary cirrhosis | |
| Tubulointerstitial nephritis | Urticaria | Primary biliary cirrhosis | Vitiligo | |
| Psoriasis | Vitiligo | Alopecia | ||
| Rheumatoid arthritis | Alopecia | Urticaria | ||
| Urticaria | Pemphigus | |||
| Psoriasis | Psoriasis | |||
| Neurodermitis | Neurodermitis | |||
| Rheumatoid arthritis | Myasthenia gravis | |||
| Systemic lupus erythematosus | Sicca/Sjögren syndrome | |||
| Myasthenia gravis | ||||
| Sicca/Sjögren-syndrome | ||||
| Inheritance | Monogenic autosomal recessive transmission | Polygenic | ||
| HLA haplotypes / AIRE gene | AIRE gene, autosomal recessive and dominant X-linked, FOXP3 | DRB1*04:04-DQA1*03:01-DQB1*03:02 | DRB1*04:01-DQA1*03:01-DQB1*03:02 | HLA-DRB1*03:01-DQA1*05:01-DQB1*02:01 |
| Single nucleotide polymorphisms | PTPN22+1858 C/T (rs2476601), CTLA-4 C/T60 (rs3087243), Bsm I (rs1544410), Aps I (rs7975232), Taq I (rs731236), IL2-Ra CD25 (rs10795791), TNF-α -308 (rs1800629) | |||
| Auto-antigens | CaSR | 21-OH | TSH-R | 17-OH |
| 17-OH | CaSR | TPO | CaSR | |
| 21-OH | TSH-R | Tg | TSH-R | |
| TPO | GAD | TPO | ||
| Tg | Insulin | Tg | ||
| GAD | IA-2 | GAD | ||
| Insulin | Islet cell | Insulin | ||
| IA-2 | ZnT8 | IA-2 | ||
| Islet cell | Islet cell | |||
| ZnT8 | ZnT8 | |||
| AP (ORPHA: 282196) Subtypes . | Juvenile I (ORPHA: 3453) . | Adult . | ||
|---|---|---|---|---|
| II (ORPHA:3143) . | III (ORPHA:227982) . | IV (ORPHA:227990) . | ||
| Prevalence | 1:100,000 | 1:20,000 | ||
| Sex ratio (male/female) | 3:4 | 1:3 | ||
| Onset | Childhood | Adulthood | ||
| Endocrine disorders / manifestations | Hypoparathyroidism | AD | AITD | Hypogonadism |
| Hypogonadism | Hypoparathyroidism | T1D | Hypoparathyroidism | |
| Adrenal failure | AITD | Hypogonadism | Hypopituitarism | |
| T1D | AITD | |||
| T1D | ||||
| Non - endocrine disorders / manifestations | Candidiasis | Autoimmune gastritis | Autoimmune gastritis | Autoimmune gastritis |
| Moniliasis | Celiac disease | Pernicious anemia | Pernicious anemia | |
| Ectodermal dystrophy | Inflammatory bowel disease | Celiac disease | Celiac disease | |
| Enamel hypoplasia | Autoimmune pancreatitis | Inflammatory bowel disease | Inflammatory bowel disease | |
| Keratitis | Vitiligo | Autoimmune pancreatitis | Autoimmune pancreatitis | |
| Hyposplenism | Alopecia | Autoimmune hepatitis | Primary biliary cirrhosis | |
| Tubulointerstitial nephritis | Urticaria | Primary biliary cirrhosis | Vitiligo | |
| Psoriasis | Vitiligo | Alopecia | ||
| Rheumatoid arthritis | Alopecia | Urticaria | ||
| Urticaria | Pemphigus | |||
| Psoriasis | Psoriasis | |||
| Neurodermitis | Neurodermitis | |||
| Rheumatoid arthritis | Myasthenia gravis | |||
| Systemic lupus erythematosus | Sicca/Sjögren syndrome | |||
| Myasthenia gravis | ||||
| Sicca/Sjögren-syndrome | ||||
| Inheritance | Monogenic autosomal recessive transmission | Polygenic | ||
| HLA haplotypes / AIRE gene | AIRE gene, autosomal recessive and dominant X-linked, FOXP3 | DRB1*04:04-DQA1*03:01-DQB1*03:02 | DRB1*04:01-DQA1*03:01-DQB1*03:02 | HLA-DRB1*03:01-DQA1*05:01-DQB1*02:01 |
| Single nucleotide polymorphisms | PTPN22+1858 C/T (rs2476601), CTLA-4 C/T60 (rs3087243), Bsm I (rs1544410), Aps I (rs7975232), Taq I (rs731236), IL2-Ra CD25 (rs10795791), TNF-α -308 (rs1800629) | |||
| Auto-antigens | CaSR | 21-OH | TSH-R | 17-OH |
| 17-OH | CaSR | TPO | CaSR | |
| 21-OH | TSH-R | Tg | TSH-R | |
| TPO | GAD | TPO | ||
| Tg | Insulin | Tg | ||
| GAD | IA-2 | GAD | ||
| Insulin | Islet cell | Insulin | ||
| IA-2 | ZnT8 | IA-2 | ||
| Islet cell | Islet cell | |||
| ZnT8 | ZnT8 | |||
Abbreviations: 17-OH, 17-hydroxylase; IA-2, tyrosine-phosphatase; Tg, thyroglobulin; TSH-R, TSH receptor; ZnT8, zinc transporter 8.
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