Here I present: “Sezary Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Sézary syndrome represents a type of blood malignancy belonging to the group of T-cell lymphomas which are known to affect the skin.
Sezary syndrome involves the BCL10 gene (diagram ABOVE) encodes a member of the CBM complex, which also contains caspase recruitment domain-containing (CARD) family adaptors, such as CARD9 and MALT1. The CBM complex is involved in NFKB activation after stimulation of various receptors on lymphoid, myeloid, and epithelial cells, thus playing a role in the immune system. BCL10 forms heterotrimers with different CARD proteins in different cell types.
There is evidence that the Sezary syndrome is caused by a mutation in the BCL10 gene on cytogenetic location 1p22.3 and genomic coordinates 1:85,265,776-85,276,632 . The screenshot of the BCL10 gene 10,857 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides BCL10 in the cytogenetic location 1p22.3 are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:84,925,583 | MCOLN2 | Mucolipin 2 |
| 1:85,018,082 | MCOLN3 | Mucolipin 3 |
| 1:85,062,327 | WDR63 | WD repeat-containing protein 63 |
| 1:85,152,491 | SYDE2 | Synapse defective Rho GTPase homolog 2 |
| 1:85,265,776 | BCL10 | B-cell leukemia/lymphoma 10 |
| 1:85,318,485 | DDAH1 | Dimethylarginine dimethylaminohydrolase-1 |
| 1:85,580,761 | CCN1 | Cellular communication network factor 1 |
| 1:85,649,417 | ZNHIT6 | Zinc finger HIT domain-containing protein 6 |
| 1:85,729,233 | COL24A1 | Collagen, type XXIV, alpha-1 |
| 1:86,346,837 | ODF2L | Outer dense fiber of sperm tails 2-like protein |
