Here I present: “Bacillus Calmette-Guérin Infection”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (BCG) 卡爾梅特-蓋林桿菌感染。icd=N30.00
INTRODUCTION.
Immunodeficiency-27A results from autosomal recessive Interferon gamma receptor-1 (IFNGR1) deficiency. Patients with complete interferon gamma receptor-1 (IFNGR1) deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease. Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years.
There is evidence that immunodeficiency-27A an autosomal recessive disorder, is caused by homozygous or compound heterozygous mutation in the IFNGR1 gene on cytogenetic location 6q23.3 and genomic coordinates 6:137,197,484-137,219,385. The screenshot of the IFNGR1 gene 21,902 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides IFNGR1 in the 6q23.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:136,822,592 | PEX7 | Peroxisomal biogenesis factor-7 |
| 6:136,922,301 | SLC35D3 | Solute carrier family 35, member D3 |
| 6:136,999,971 | IL20RA | Interleukin 20 receptor, alpha |
| 6:137,143,820 | IL22BP | Interleukin 22-binding protein |
| 6:137,197,484 | IFNGR1 | Immune interferon, receptor for |
| 6:137,492,199 | OLIG3 | Oligodendrocyte lineage transcription factor 3 |
| 6:137,823,669 | WAKMAR2 | Wound- and keratinocyte migration-associated long noncoding RNA 2 |
| 6:137,866,349 | TNFAIP3 | Tumor necrosis factor-alpha-induced protein 3 |
| 6:138,088,505 | PERP | p53 effector related to PMP22 |
| 6:138,161,939 | ARFGEF3 | ADP-ribosylation factor guanine nucleotide exchange factor 3 |
