Here I present: “Bare Lymphocyte Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 裸淋巴細胞綜合徵。(TAP1) icd10=D81.7
INTRODUCTION.
Bare lymphocyte syndrome (BLS) is a condition caused by mutations in certain genes of the major histocompatibility complex (MHC) or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.
MHC class I deficiency type-1 is an autosomal recessive immunologic disorder characterized by the onset of recurrent and chronic bacterial sinobronchial infections in the first or second decades of life, usually with progression to bronchiectasis. Nasal polyps are commonly observed, and chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, and/or skin, which can be severe, may develop later. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens (HLA-A, HLA-B, and HLA-C) on the cell surface, leading to the alternative designation bare lymphocyte syndrome type I (BLS type I).
There is evidence that MHC class I deficiency is caused by homozygous mutation in the transporter-1 ATP-binding cassette (TAP1) gene on cytogenetic location 6p21.32 and genomic coordinates 6:32,845,209-32,853,704. The screenshot of the TAP1 gene 8,496 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TAP1 in the 6p21.32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:32,756,098 | HLA-DQB2 | Major histocompatibility complex, class II, DQ beta-2 |
| 6:32,812,763 | HLA-DOB | Major histocompatibility complex, class II, DO beta |
| 6:32,821,831 | TAP2 | Transporter 2, ATP-binding cassette, subfamily B |
| 6:32,840,717 | PSMB8 | Proteasome subunit, beta type, 8 |
| 6:32,845,209 | TAP1 | Transporter 1, ATP-binding cassette, subfamily B |
| 6:32,854,192 | PSMB9 | Proteasome subunit, beta type, 9 |
| 6:32,934,636 | HLA-DMB | Major histocompatibility complex, class II, DM beta |
| 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 |
