Here I present: “Chronic Granulomatous Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CGD) icd10=L92.9
INTRODUCTION.
Chronic granulomatous disease (CGD) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (due to defective phagocyte NADPH oxidase, Enzyme Commission number #1.6.3.1) used to kill certain ingested pathogens. This leads to the formation of granulomas in many organs.
Mutations in the NADPH oxidase (Enzyme Commission number #1.6.3.1) subunit genes cause several chronic granulomatous diseases (CGD), characterized by extreme susceptibility to infection. These include:
- X-linked chronic granulomatous disease (CGDX)
- Autosomal recessive cytochrome b-negative (CGD1)
- Autosomal recessive cytochrome b-positive (CGD2)
- Autosomal recessive cytochrome b-positive (CGD3)
In these diseases, cells have a low capacity for phagocytosis, and persistent bacterial infections occur. Areas of infected cells are common granulomas.
There is evidence that autosomal recessive chronic granulomatous disease-1 (CGD1) is caused by homozygous or compound heterozygous mutation in the NCF1 gene that encodes NADPH-phagocyte oxidase on cytogenetic location 7q11.23 and genomic coordinates 7:74,774,011-74,789,315. The screenshot of the NCF1 gene 15,305 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides NCF1 in the 7q11.23 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:74,231,502 | RFC2 | Replication factor C2 |
| 7:74,289,407 | CLIP2 | CAP-GLY domain-containing linker protein 2 |
| 7:74,453,906 | GTF2IRD1 | GTF21 repeat domain-containing protein 1 |
| 7:74,657,718 | GTF2I | General transcription factor II-I |
| 7:74,774,011 | NCF1 | Neutrophil cytosolic factor-1 |
| 7:74,796,151 | GTF2IRD2 | GTF2I repeat domain-containing protein 2 |
| 7:74,964,705 | CASTOR2 | Cytosolic arginine sensor for mTORC1 subunit 2 |
| 7:75,027,119 | RCC1L | RCC1-like protein |
| 7:75,092,556 | GTF2IRD1B | GTF2I repeat domain-containing protein 2 |
| 7:75,395,629 | TRIM73 | Tripartite motif-containing protein 73 |
