TEC – Systemic Lupus Erythematosus

The association between TEC and systemic lupus erythematosus (SLE) was identified through a family‐based whole‑exome sequencing study of 31 families, including 11 families with SLE (PMID:31848144). Although several immune‑related genes were prioritized in this analysis, TEC emerged as a candidate due to its role in T cell receptor signaling and immune regulation.

Genetic evidence was derived from heterozygous filtering and cosegregation analysis, demonstrating that rare variants in TEC were present in multiple families with autoimmune phenotypes. While a detailed HGVS‐coded variant was not provided for TEC, the genetic pattern suggests that even rare alterations may contribute to disease predisposition in the context of complex familial autoimmunity (PMID:31848144).

Complementary functional studies have further supported the biological relevance of TEC in immune function. One study in mouse hematopoietic precursors identified critical regulatory regions within the TEC promoter that bind to transcription factors PU.1 and Sp1, thereby modulating TEC expression (PMID:9177279). Another investigation demonstrated that GAPDH interacts with the oncogenic fusion product involving TEC, suggesting additional layers of transcriptional regulation that may impact immune cell behavior (PMID:17302560).

No significant conflicting data have been reported regarding TEC’s role in SLE. However, the absence of a specific, high‐impact HGVS variant underscores the need for further validation. The available familial and experimental data, while promising, suggest that additional studies are warranted to fully delineate the mechanistic contribution of TEC in SLE pathogenesis.

Integrating the genetic and functional findings, the current evidence points to a moderate gene–disease association, with familial observations and well‐established functional assays collectively underscoring the potential impact of TEC on T cell signaling and autoimmunity. This layered evidence is especially relevant when considering targeted diagnostic assessments and possible therapeutic interventions in patients with SLE.

Key take‑home sentence: TEC is implicated in systemic lupus erythematosus through its essential role in T cell receptor signaling, making it a viable candidate for diagnostic and therapeutic strategies in autoimmune disease management.

References

• Annals of the rheumatic diseases • 2020 • Germline genetic patterns underlying familial rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren's syndrome highlight T cell‑initiated autoimmunity PMID:31848144
• Biochemical and biophysical research communications • 1997 • Identification of PU.1 and Sp1 as essential transcriptional factors for the promoter activity of mouse tec gene PMID:9177279
• The Biochemical journal • 2007 • Regulation of oncogenic transcription factor hTAF(II)68‑TEC activity by human glyceraldehyde‑3‑phosphate dehydrogenase (GAPDH) PMID:17302560

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