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Abstract
Objective To highlight Mendelian inheritance in adult-onset systemic lupus erythematosus with a unique case of spondyloenchondrodysplasia-immune dysregulation and explore the potential of baricitinib as a promising treatment.
Methods We present a case of spondyloenchondrodysplasia-immune dysregulation in an adult patient, born to nonconsanguineous parents. The patient was diagnosed with spondyloenchondrodysplasia-immune dysregulation and exhibited immune neutropenia, anti-dsDNA positivity, platyspondyly (figure 1), immune deficiency, and a homozygous variant (c.155A > C, p.Lys52Thr) in the ACP5 gene, previously classified as pathogenic. Baricitinib, a Janus kinase inhibitor known for its potential efficacy in managing interferonopathies like spondyloenchondrodysplasia-immune dysregulation, was initiated after the diagnosis.
Results Systemic lupus erythematosus typically manifests as a multifactorial disease in adulthood, with monogenic forms contributing to 10–25% of cases in childhood. Spondyloenchondrodysplasia, a rare monogenic lupus subtype, has been reported in only 22 patients to date, the majority of whom were diagnosed during childhood, except for one case diagnosed at 19. Our case is unique as it displayed the complete clinical spectrum of monogenic systemic lupus erythematosus at 35 years of age, deviating from the typical age of presentation described in the literature. During follow-up, our patient achieved successful clinical management through the initiation of baricitinib treatment.
Conclusion Spondyloenchondrodysplasia-immune dysregulation represents an uncommon cause of systemic lupus erythematosus in adulthood. Clinicians should be vigilant of underlying Mendelian inheritance when encountering patients with associated immunodeficiency, skeletal abnormalities, and neurological issues. Although current treatment modalities for Mendelian and non-Mendelian systemic lupus erythematosus are similar, Janus kinase inhibitors, such as baricitinib, hold promise as a viable treatment option for monogenic systemic lupus erythematosus cases exhibiting an interferon signature.
Patient‘s vertebral imaging on admission showed platyspondyly as seen in (A) and (B). This condition is characterized by flattened vertebral bodies throughout the axial skeleton and is a radiographic indication of spondyloenchondrodysplasia
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