SOX-1 antibodies in a patient with Crohn’s disease: a case report

Polilli, Ennio; Frattari, Antonella; Esposito, Jessica Elisabetta; Angelini, Gilda; Risio, Annalisa Di; Mazzotta, Elena; Coladonato, Simona; Iorio, Giancarlo Di; Parruti, Giustino; Tocco, Pierluigi

doi:10.1186/s12883-022-02923-8

Cited by 2 publications

(2 citation statements)

References 42 publications

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“…Her IBD course is unusual and she also had orbital pseudotumor, a rare extra-intestinal manifestation of IBD [8]. A description of anti-SOX1 antibodies in a patient with CD and Lambert-Eaton myasthenic syndrome also points towards a far wider association of different types of neuromuscular involvement in patients with MG [50].…”

Section: Discussionmentioning

confidence: 99%

Increased Prevalence of Myasthenia Gravis in a Cohort of Patients with Inflammatory Bowel Disease

Leitão,

Gondim,

Thomas

et al. 2023

Preprint

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Background. Co-morbid auto-immune disorders may affect 0.2% of the population. We evaluated the association between myasthenia gravis and inflammatory bowel disease. Methods. We present the epidemiological, clinical and electrodiagnostic findings of one patient with ulcerative colitis and three with Crohn’s disease (from a Brazilian cohort of 606 patients) and co-morbid myasthenia gravis. Results.Mean age of onset of inflammatory bowel disease was 33.5+2.7, and patients are currently 45.8+7.3 years old. Two patients were acetylcholine receptor antibody positive, one anti-Muscle specific kinase positive and one seronegative. Three had abnormal repetitive nerve stimulation, all four had normal nerve conduction studies, abnormal skin wrinkling test and mild small fiber neuropathy. None had thymoma and/or accepted thymectomy. According to the Myasthenia Gravis Foundation classification, one was class V, one class IVb and two IIa. Myasthenia gravis diagnosis was masked by immunotherapy in all. The Prevalence ratio of having myasthenia gravis in inflammatory bowel disease patients in comparison with the proportion of myasthenia gravis among all patients seen in our center was 8.56 (P<0.0001, CI=3.1-23.5). Considering the lowest and highest prevalence of myasthenia gravis reported in the literature, the Prevalence ratio is 44.0 (P<0.0001, CI:16.3-118.4) and 26.4 (P<0.0001, CI: 9.8-70.6), respectively. Conclusions. Myasthenia gravis prevalence is higher in inflammatory bowel disease and may include muscle specific kinase positive disease (first report in the literature). In general, myasthenia gravis clinical course was not significantly modified by inflammatory bowel disease relapses and frequently overlaps with other autoimmune conditions and small fiber neuropathy.

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Section: Discussionmentioning

confidence: 99%

Increased Prevalence of Myasthenia Gravis in a Cohort of Patients with Inflammatory Bowel Disease

Leitão,

Gondim,

Thomas

et al. 2023

Preprint

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“…studies that reported SOX1 antibodies in non-PNS, mainly neuropathies, as the detection of SOX1 antibodies was done by a single technique (immunoblot or ELISA) and the result was not confirmed by CBA (10)(11)(12)(13)(14)(15)(16).…”

Section: Figurementioning

confidence: 99%

Algorithm to improve the diagnosis of paraneoplastic neurological syndromes associated with SOX1 antibodies

Arnaldos-Perez

Vilaseca²,

Naranjo

et al. 2023

Front. Immunol.

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SOX1 antibodies (SOX1-abs) are associated with paraneoplastic neurological syndromes (PNS) and small cell lung cancer (SCLC). In many clinical laboratories SOX1-abs are determined by commercial line blots without confirmation by cell-based assay (CBA) with HEK293 cells expressing SOX1. However, the diagnostic yield of commercial line blots is low and the accessibility to the CBA, that is not commercially available, limited. Here, we evaluated if the addition of the band intensity data of the line blot and the immunoreactivity in a tissue-based assay (TBA) improve the diagnostic performance of the line blot. We examined serum of 34 consecutive patients with adequate clinical information that tested positive for SOX1-abs in a commercial line blot. Samples were also assessed by TBA and CBA. SOX1-abs were confirmed by CBA in 17 (50%) patients, all (100%) had lung cancer (SCLC in 16) and 15/17 (88%) had a PNS. In the remaining 17 patients the CBA was negative and none had PNS associated with lung cancer. TBA was assessable in 30/34 patients and SOX1-abs reactivity was detected in 15/17 (88%) with positive and in 0/13 (0%) with negative CBA. Only 2 (13%) of the 15 TBA-negative patients were CBA-positive. The frequency of TBA-negative but CBA-positive increased from 10% (1/10) when the band intensity of the line blot was weak to 20% (1/5) in patients with a moderate or strong intensity band. Confirmation by CBA should be mandatory for samples (56% in this series) not assessable (4/34; 12%) or negative in the TBA (15/34; 44%).

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SOX-1 antibodies in a patient with Crohn’s disease: a case report

Cited by 2 publications

References 42 publications

Increased Prevalence of Myasthenia Gravis in a Cohort of Patients with Inflammatory Bowel Disease

Increased Prevalence of Myasthenia Gravis in a Cohort of Patients with Inflammatory Bowel Disease

Algorithm to improve the diagnosis of paraneoplastic neurological syndromes associated with SOX1 antibodies

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