Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.

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.