Abstract
Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical features including autoimmune endocrinopathy. Herein, we identified a novel phenotype in a girl presenting with clinical and laboratory findings consistent with SLE. Exome sequencing identified pathogenic heterozygous variant in PTEN gene (NM_000314: exon 6: c.518G > C: p. R173P) and homozygous variant in TALDO1 gene (NM_006755: exon 6: c.793C del: p. Q265f). Our report highlights the association of PTEN mutation and autoimmunity and the possibility that transaldolase deficiency may be indirectly involved in the development of SLE.
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We thank our patient and her family for collaboration in this study.
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Al-Mayouf, S.M., AlTassan, R.S. & AlOwain, M.A. Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype. Clin Rheumatol 39, 3511–3515 (2020). https://doi.org/10.1007/s10067-020-05205-1
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DOI: https://doi.org/10.1007/s10067-020-05205-1