Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype
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CASE BASED REVIEW
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype Sulaiman M. Al-Mayouf 1
&
Ruqaiah S. AlTassan 2 & Mohammed A. AlOwain 2
Received: 19 April 2020 / Revised: 14 May 2020 / Accepted: 25 May 2020 # International League of Associations for Rheumatology (ILAR) 2020
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. Keywords Phosphatase and tensin homolog . Systemic lupus erythematous . Transaldolase deficiency
Introduction Systemic lupus erythematosus (SLE) is a complex systemic autoimmune disease with a wide spectrum of clinical and laboratory features which may overlap with several systemic disorders, including inherited disorders. The pathogenesis underlying SLE remains unclear but like other autoimmune diseases, genetic, hormonal, and environmental factors might play a role in the etiology and pathophysiology of SLE [1]. It is rarely considered a causative relationship between autoimmunity and inherited metabolic diseases. The immune function and metabolism are highly integrated as the components of innate and adaptive immune systems including B and T lymphocytes rely on nutrients and metabolites essential for their functions [2]. Phosphatase and tensin homolog (PTEN) genes have been identified as playing a central role in the regulating B cell function [3]. Recent report emphasized the potential role of PTEN dysregulation in the development of * Sulaiman M. Al-Mayouf [email protected] 1
Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Alfaisal University, Po Box 3354, Riyadh 11211, Saudi Arabia
2
Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
immune complex disease [4]. Similarly, metabolic derangements can cause immune-dysregulation and may lead to autoimmune diseases. For instance, SLE has been reported in patients with lysinuric protein intolerance, alpha-mannosidosis, and prolidase deficiency. Furthermore, a spectrum of endocrinopathies was described in patients with an inborn error of the pentose phosphate pathway (PPP) due to transaldolase deficiency [5–8]. Herein, we report a child with a de novo pathogenic PTEN variant and transaldolase deficiency presented with clinical and serological features of SLE.
Clinical presentation A 6-year-old
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