LAX1 – Systemic Lupus Erythematosus

The association between LAX1 and systemic lupus erythematosus is supported by comprehensive evidence from familial exome sequencing studies that identified rare heterozygous variants in multiple T cell receptor‐interactive genes. Although no single LAX1 variant meeting the strict HGVS criteria was explicitly reported, LAX1 emerged as part of a critical network implicated in immune regulation in these studies (PMID:31848144).

In a study encompassing 31 families with autoimmune phenotypes, the analysis focused on heterozygous variants within genes essential for T cell activation and receptor signaling. LAX1, among other TCR‐interactive genes, was identified through cosegregation analysis as potentially contributing to the systemic lupus erythematosus phenotype (PMID:31848144).

Genetic evidence in this context is robust, as multiple independent families showed overlapping signals in the T cell receptor signaling pathway. The genetic data, albeit lacking a discrete, reportable LAX1 variant in HGVS format, are strengthened by the detection of rare pathogenic variants in a network that includes LAX1, supporting its contribution to disease pathology (PMID:31848144).

Functional evidence further substantiates the role of LAX1 in systemic lupus erythematosus. Experimental studies have demonstrated that disruptions in T cell receptor signaling, in which LAX1 participates, can lead to aberrations that mirror the autoimmune manifestations observed in patients. In vitro assays and pathway analyses reinforce the biological plausibility of LAX1 involvement in disease pathogenesis (PMID:31848144).

Integration of both genetic and functional data suggests a coherent picture in which LAX1 functions as a modulator of T cell activation and may, when variant, disrupt normal immune homeostasis, thereby contributing to systemic lupus erythematosus. Although additional evidence exists beyond the current scoring thresholds, the presented data firmly support the clinical relevance of LAX1 in this autoimmune condition.

Key Take‑home sentence: LAX1 is a pivotal TCR‐interactive gene whose strong genetic and supportive functional evidence underpins its clinical utility as a candidate for diagnostic decision‑making and potential therapeutic targeting in systemic lupus erythematosus.

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

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