Arthritis & Rheumatism, Volume 63,
November 2011 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Chicago, Illinois November 4-9, 2011.

Comprehensive Screening for Primary Immunodeficiencies Shows Unexpectedly High Frequency of Selective IgM Deficiency in Systemic Lupus Erythematosus.

Perazzio1,  Sandro F., Silva2,  Neusa P., Salomao1,  Reinaldo, Andrade3,  Luis Eduardo C.

Federal University of Sao Paulo, Sao Paulo, Brazil
Escola Paulista de Medicina - Universidade Federal de São Paulo, Sao Paulo, Brazil
Universidade Federal de São Paulo and Fleury Health and Medicine Laboratories, Sao Paulo Brazil, Sao Paulo, Brazil


Systemic Lupus Erythematosus (SLE) is known to be associated with deficiency of C1q, C4, and C2. There is high frequency of discoid lesions (2.7%) and SLE (0.5%) in Chronic Granulomatosus Disease (CGD). Selective IgA Deficiency (SIgAD) has been associated with juvenile (5.2%) and adult (2.6%) SLE. About 25% of patients with Common Variable Immunodeficiency (CVID) develop autoimmune manifestation, including SLE. Although there are reports of individual primary immunodeficiency (PID) in SLE, there is no systematic study estimating the fraction of SLE patients presenting a comprehensive array of PID. We present preliminary results of an ongoing study aimed to estimate the prevalence of overall PID in a cohort of SLE patients and age- and gender-matched healthy controls, and to compare the clinical characteristics of the SLE patients with and without PID.


265 SLE patients and 215 controls recruited among blood donors underwent clinical examination and were evaluated for C2, C3, mannose binding lectin (MBL), immunoglobulin isotypes, and quantification of the oxidative burst in neutrophils. Those who presented any laboratory indication of PID were submitted to a novel examination within 60 days for confirmation. Cases under disease activity were followed and submitted to novel examinations after the end of the flare or excluded if no remission was attained up to the end of the project. PID was established after confirmation of abnormal results in a second evaluation and after disease remission.


Altogether there were 27 SLE patients and four controls with established diagnosis of PID (p<0.01). PIDs in SLE patients included Selective IgM Deficiency (SIgMD) (n=19), SIgAD (n=2), SIgGD (n=6, all due to lower IgG1 serum component). No patient presented evidence of Hyper-IgM Syndrome, MBL deficiency, CVID, and CGD. There was one female patient with neutrophil oxidative burst compatible with CGD gene carrier status. There was isolated reduction of C2 or C3 in eight patients but these were not classified as PID at this moment because these results must be confirmed by genotyping. As expected, there was higher frequency of hypergammaglobulinemia (high IgA and IgG levels) in SLE (40%) as compared to controls (6%) (p<0.001). SLE patients with and without evidence for PID did not differ with respect to clinical manifestations, immunosuppressant use, infection rate and severity, SLEDAI, and age at disease onset.


These preliminary findings demonstrate high frequency of overall PID in SLE, suggesting that an immunodeficient state PID might represent a risk factor for SLE development. The unexpected high frequency of SIgMD appears to indicate an intriguing aspect of SLE pathophysiology since IgM is important for immunocomplex and pathogen clearance. Therefore, low IgM levels might induce a state of frequent and persistent immunological stimulation, which may culminate in autoimmunity development.

To cite this abstract, please use the following information:
Perazzio, Sandro F., Silva, Neusa P., Salomao, Reinaldo, Andrade, Luis Eduardo C.; Comprehensive Screening for Primary Immunodeficiencies Shows Unexpectedly High Frequency of Selective IgM Deficiency in Systemic Lupus Erythematosus. [abstract]. Arthritis Rheum 2011;63 Suppl 10 :660

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