Background/Purpose: Humoral immunodeficiency syndromes including common variable immune deficiency (CVID) are not uncommonly associated with autoimmunity. The spectrum of autoimmune disorders encountered in CVID patients may include features seen in systemic lupus erythematosus (SLE). Studies were undertaken at an academic center managing both disorders to determine the relative prevalence, clinical features, and outcomes of immunodeficiency associated SLE.

Methods: A retrospective review of records of patients seen between 2011 and 2014 with suspected humoral immunodeficiency and SLE was undertaken. Records for review were identified using an electronic medical record search of diagnosis codes for SLE and hypogammaglobulinemia. The clinical and immunologic profile was determined for patients with confirmed or suspected SLE who also had undergone evaluation for humoral immunodeficiency.hods 

Results: We identified 36 patients meeting ACR criteria for SLE with inadequate response to pneumococcal vaccine challenge (failure to generate protective antibody titer to ≥ 5/14 pneumococcal vaccine antigens) and/or low serum IgG levels (< 700 mg/dl) not attributable to antecedent immunosuppressive therapy. This comprised 5.5% of our SLE patients meeting ACR SLE criteria in active follow-up. An additional 30 patients with SLE clinical features but not meeting SLE ACR criteria were identified with low serum IgG and/or inadequate vaccine responses. Among the 36 identified patients meeting ACR SLE criteria, serum immunoglobulin levels ranged from 459-744 mg/dl;  33 (92%) had serum IgG levels <700 mg/dl,  while 19 (53%) had inadequate response to pneumococcal vaccine challenge, including the three patients with serum IgG > 700 mg/dl. Frequent upper/lower respiratory infections requiring antibiotic treatment (≥3 episodes/year) were reported in 24/36 (67%) patients.  SLE features developed 2-26 years (mean = 8.9 years) prior to the recognition of low serum IgG in 25 (69%) patients, whereas initial SLE features were noted concurrently with or 3-4 years following first confirmed low IgG levels in 11 (31%). Arthritis (75%), photosensitivity (81%), malar rash (61%) and mucosal ulcers (56%) were the most prevalent SLE features. Only 9 (25%) of patients had low complement C3 or C4 levels, 6 (17%) had cytopenias, and 2 (6%) had elevated levels of anti-dsDNA. The majority of patients were managed with antimalarials (86%), with 8/36 (22%) also using methotrexate; 18/36(50%) were on treatment with IVIG. Disease activity was low (SLEDAI score ≤2) in 32/36 (89%) at the last noted follow-up assessment.

Conclusion: SLE may be a presenting feature of patients with humoral immunodeficiency. Serum immunoglobulin levels and assessment of the response to pneumococcal vaccination for patients with low or low normal serum IgG levels should be included as part of the evaluation for suspected SLE, particularly in the context of frequent respiratory infections. Favorable outcomes are seen in the context of standard of care treatment for SLE combined with immunoglobulin replacement therapy.

---

« Back to 2014 ACR/ARHP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/humoral-immunodeficiency-in-patients-presenting-with-clinical-features-of-systemic-lupus-erythematosus/