Selective immunoglobulin M deficiency complicated by systemic lupus erythematosus and antiphospholipid syndrome: a case report and review of literature


Selective immunoglobulin M deficiency (SIgMD) is the isolated absence of serum immunoglobulin M (IgM) with normal levels of other serum immunoglobulins. SIgMD is associated with infections and autoimmune diseases. While there are few reports on SIgMD complicated by systemic lupus erythematosus (SLE), there are no reports on SIgMD complicated by SLE and antiphospholipid syndrome (APS); we present the first report of this kind. A 61-year-old Japanese woman presented with microscopic hematuria and proteinuria. Clinical investigations revealed an elevated serum creatinine level, an undetectable serum IgM level, and seropositivity of antinuclear antibody, anti-Smith antibody, and double-stranded DNA antibody. Radiological investigations were unremarkable. Renal biopsy revealed focal and segmental mesangial cell proliferation; thickened glomerular capillary walls; and IgG, IgA, C3, and C1q deposition, which indicated class III (A/C) lupus nephritis (Renal Pathology Society/International Society of Nephrology classification). Furthermore, anti-CLβ2GP1 antibody positivity and deep vein thrombosis were noted, which fulfilled the revised Sapporo classification criteria for the diagnosis of APS. Thus, she was diagnosed with SIgMD complicated by SLE and APS. The patient was treated with prednisolone, mycophenolate mofetil, and warfarin. After a 1-year follow-up, she achieved clinical remission of SLE and APS without infectious complications; however, the serum IgM level remained undetectable. In conclusion, SIgMD can be complicated by autoimmune disorders. Although rare, we recommend that SLE and APS be considered in patients with SIgMD who present with hematuria, proteinuria, and deep vein thrombosis. We also recommend measuring the titers of antinuclear antibodies, double-stranded DNA antibodies, and anti-CLβ2GP1 antibodies.

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Correspondence to Yoshinosuke Shimamura.

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Shimamura, Y., Maeda, T., Abe, K. et al. Selective immunoglobulin M deficiency complicated by systemic lupus erythematosus and antiphospholipid syndrome: a case report and review of literature. CEN Case Rep (2021).

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  • Selective IgM deficiency
  • Systemic lupus erythematosus
  • Antiphospholipid syndrome