Sarcoidosis is a multisystemic inflammatory disorder of unknown etiology. It can present in various clinical forms. Involvement of muscles is common but isolated muscle mass, the only initial ...presenting complaint has never been reported. We report a 55-year-old white female who presented with a muscle mass, with no other clinical features of sarcoidosis. She was later found to have hilar lymphadenopathy and muscle biopsy confirmed the diagnosis of sarcoidosis. During clinical follow up patient remained stable without any medical intervention.
Systemic lupus erythematosus (SLE) is a chronic, relapsing, and remitting disease affecting primarily African American females of child bearing age. Familial aggregation of this disease suggests that ...at least part of the susceptibility for this disease is genetic, although environmental and hormonal influences are also likely to play a role. Early studies of genetic susceptibility to SLE revealed several of the major histocompatibility complex molecules, namely HLA DR, to be linked to SLE. Meta-analysis of genome scans has yielded loci significant for lupus patients, one of which includes the MHC region.
Regulatory T cells are immunoregulatory cells that modulate activated immune cells. These cells play a large role in homeostasis of the immune responses and maintenance of immunologic tolerance, i.e., prevention of autoimmunity. Decreased numbers of regulatory T cells have been described in many autoimmune diseases, including systemic lupus erythematosus.
Autoantibody production in systemic lupus erythematosus and the resulting immune complex formation and complex deposition into tissues are arguably the central core of immune dysregulation leading to disease manifestations and symptoms. Inability of the immune system to recognize and inhibit autoreactive immune cells in this particular autoimmune disease may be the result of inappropriate numbers and function of regulatory T cells.
This study aims to characterize the immune cell population in patients from our community suffering from systemic lupus erythematosus and to prove that these patients exhibit a unique cellular profile compared to healthy age, race and gender matched control subjects. Surprisingly, our findings demonstrate that patients from the local Mississippi area exhibit increased proportions of CD25
+ FoxP3
+ regulatory T cells and CD25
+ FoxP3
− T cells (of CD45
+ CD3
+ CD4
+ helper T cells) as compared to healthy controls.
HLA tissue-typing of these lupus patients revealed a prominent subgroup (~
30%) of patients possessing the HLA DRB1*1503 allele. The investigation of this subgroup demonstrated regulatory T cell composition similar to that of the total lupus group and to that of the non-HLA DRB1*1503 subgroup.
Genetic analysis for molecular gene expression levels of various lupus-associated genes by real-time PCR demonstrated a unique profile as compared to healthy controls. Increased gene expression of FoxP3 together with decreased gene expression levels of GATA3, TNFAIP3, and TNFSF4 suggest that variations in gene products compared to healthy controls may be playing a role in the immune cell dysregulation and disproportionate CD25
+ FoxP3
+ regulatory T cells.
Testicular involvement in connective tissue diseases (CTD) is typically caused by medium vessel vasculitis as in polyarteritis nodosa. Systemic lupus erythrematosus (SLE) and systemic sclerosis cause ...small vessel vasculitis, which is an unusual cause of orchitis. We hereby report a case of orchitis in a 28-year-old patient caused by vasculitis related to his lupus/scleroderma overlap CTD. He had an excellent response to steroids and azathioprine with complete resolution of his testicular and systemic symptoms. Our case highlights that although testicular involvement secondary to small vessel vasculitis in CTD is uncommon, it is still possible and should be evaluated.
Abstract only
Forty cases of clinically diagnosed SLE were examined for HLA typing trends as well as composition of immune system cells. The SLE population under consideration was 97% female and 97% ...African American. Of the 37 cases for which HLA typing was performed, 13 (35%) had at least one 1503 allelic haplotype. All (100%) of these 1503 type cases were African American and 85% were female. Immunologic testing of twelve of these 1503 types showed 8 (67%) with anti‐DNA antibodies, 8 (67%) with antinuclear antibodies, and 4 (33%) with anti‐Sm antibodies. Additionally, 6 cases (16%) had at least one 0804 allelic haplotype. All (100%) of these 0804 type cases were female African Americans. Testing of 5 of these 0804 types showed 4 (80%) with anti‐DNA antibodies, 3 (60%) with anti‐Sm antibodies, and 2 (40%) with antinuclear antibodies. Twelve cases were examined by flow cytometry to determine the mean percentage of lymphocyte population constituents. Across these cases, CD4/CD3 positive Th cells contributed on average to 47% of the lymphocyte population, with an average of 5.1% of these Th cells also being CD25/FoxP3 positive Tregs. Statistical analysis found no significant difference for either mean when comparing 1503 type against all others. Future studies will focus on increasing the number of total SLE cases and incorporating age/gender/race matched controls to determine significance of HLA and regulatory T cell function in SLE.
Nephrogenic fibrosing dermopathy is a unique fibrosing disorder recently identified to occur exclusively among patients with renal disease. The cutaneous findings are similar to those of systemic ...sclerosis, but it is important to differentiate between these two disorders because of significant prognostic and therapeutic implications. Nephrogenic fibrosing dermopathy is usually a diagnosis of exclusion, but the condition does have distinct clinical and histopathologic findings. It appears to be multifactorial in pathogenesis, and no specific cause has been identified. No specific treatment modality has been consistently effective, but there have been reports of improvement that occurred either spontaneously with renal recovery or after renal transplantation. We present an interesting case of a 33-year-old woman diagnosed with nephrogenic fibrosing dermopathy, along with a review of the literature.
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