Here I present: “Chronic Beryllium Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 慢性鈹病。(CBD) icd10=J63.2
INTRODUCTION.
Chronic beryllium disease (CBD), is a chronic lung response and chronic lung disease caused by exposure to beryllium and its compounds, a form of beryllium poisoning. It is distinct from acute beryllium poisoning, which became a disease following occupational exposure limits established in 1950. Chronic beryllium disease (CBD) is an occupational lung disease.
Chronic beryllium disease (CBD) is a hypersensitivity lung disorder caused by exposure to beryllium that is not strictly dependent on beryllium concentration. CBD is a disorder that occurs in diverse industries, including high-technology ceramics, electronics, dental alloy preparation, nuclear weapons, metal extraction, and aerospace. Its immunopathologic features predict that CBD is maintained by an accumulation of large numbers of beryllium-specific CD4+ T cells in the lungs of patients. Granulomas form around beryllium particles in the walls of the alveoli. Blood lymphocytes from a person sensitive to beryllium proliferate in vitro when cultured in the presence of beryllium salts. This reaction is the basis of the beryllium lymphocyte proliferation test that is used in the specific diagnosis of CBD and for detection of early CBD in industrial screening programs.
There is evidence that chronic beryllium disease (CBD) is caused by mutation in the HLA-DPB1 gene on cytogenetic location 6p21.32 and genomic coordinates 6:33,075,990-33,089,696. The screenshot HLA-DPB1 gene 13,707 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HLA-DPB1 in the 6p21.32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:32,948,618 | HLA-DMA | Major histocompatibility complex, class II, DM alpha |
| 6:32,968,594 | BRD2 | Bromodomain-containing protein 2 |
| 6:33,004,182 | HLA-DNA | Major histocompatibility complex, class II, DN alpha |
| 6:33,064,569 | HLA-DPA1 | Major histocompatibility complex, class II, DP alpha-1 |
| 6:33,075,990 | HLA-DPB1 | Major histocompatibility complex, class II, DP beta-1 |
| 6:33,162,694 | COL11A2 | Collagen XI, alpha-2 polypeptide |
| 6:33,193,588 | RXRB | Retinoid X receptor, beta |
| 6:33,200,867 | SLC39A7 | Solute carrier family 39 (zinc transporter), member 7 |
| 6:33,204,655 | HSD17B8 | Hydroxysteroid (17-beta) dehydrogenase 8 |
| 6:33,207,835 | MRI219-1 | Micro RNA 219-1 |
