Here I present: “Severe Combined Immunodeficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 嚴重綜合免疫缺陷。(SCID).
INTRODUCTION.
Severe combined immunodeficiency (SCID) is a genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. SCID involves defective antibody response due to either direct involvement with B-lymphocytes or through improper B-lymphocyte activation due to non-functional T-helper cells. Consequently, both “arms” (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least seven different known genes in which mutations lead to a form of SCID. SCID is the result of an immune system so highly compromised that it is considered almost absent.
There is evidence that severe combined immunodeficiency type-104 (SCID104) usually manifest as T cell-negative (T-), B cell-positive (B+), natural killer cell-positive (NK+) severe combined immunodeficiency type-104 (SCID104), is caused by homozygous or compound heterozygous mutation in the interleukin type-7 receptor gene (IL7R) on cytogenetic location 5p13.2 and genomic coordinates 5:35,856,891-35,879,603. The screenshot of the IL7R gene 22,713 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides IL7R in the 5p13.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:34,929,559 | DNAJC21 | DNAJ/HSP40 homolog, subfamily C, member 21 |
| 5:34,998,102 | AGXT2 | Alanine-glyoxylate aminotransferase 2 |
| 5:35,048,756 | PRLR | Prolactin receptor |
| 5:35,617,863 | SPEF2 | Sperm flagellar protein 2 |
| 5:35,856,891 | IL7R | Interleukin-7 receptor |
| 5:35,904,288 | CAPSL | Calcyphosine-like protein |
| 5:35,951,006 | UGT3A1 | Uridine diphosphate glucuronosyltransferase 3, A1 |
| 5:36,035,021 | UGT3A2 | Uridine diphosphate glucuronosyltransferase 3, A2 |
| 5:36,098,407 | LMBRD2 | LMBR1 domain-containing protein 2 |
| 5:36,152,111 | SKP2 | S-phase kinase-associated protein 2 (p45) |
