Presentation
The average number of spontaneous losses for these eight women was 3.3 /- 2.1 (range: 1-8). aPL was present in 100% of cases. ANAs and hypergammaglobulinemia were present in 50% of cases and low C4 in 87.5% of cases. [ncbi.nlm.nih.gov]
Entire Body System
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Lymphadenopathy
Abstract A patient with angioimmunoblastic lymphadenopathy with dysproteinemia had a monoclonal IgG hypergammaglobulinemia. [ncbi.nlm.nih.gov]
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Raynaud Phenomenon
Raynaud's phenomenon was absent and thorough evaluation failed to reveal any evidence of myositis or the visceral manifestations of systemic sclerosis. There was no loss of skin appendages. [ncbi.nlm.nih.gov]
Musculoskeletal
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Flexion Contracture
Flexion contractures of elbows and knees and limitation of abduction at the shoulders developed in a few weeks after onset. [ncbi.nlm.nih.gov]
Neurologic
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Seizure
Abstract A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. [ncbi.nlm.nih.gov]
Workup
Serum
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Albumin Decreased
This suggests that serum albumin decreases to a similar extent in various chronic diseases and that hypoalbuminemia has no diagnostic implications, except to the extent that it reflects the severity of hypergammaglobulinemia. [ncbi.nlm.nih.gov]
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Elevated Sedimentation Rate
Both had elevated sedimentation rates and hypergammaglobulinemia (in one, IgG 4.1 g.%). Serologic tests for syphilis, rheumatoid factor, LE cells, antinuclear antibodies, complement and cryoglobulins were negative or normal in both patients. [ncbi.nlm.nih.gov]
Biopsy
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Liver Biopsy
Liver biopsy showed atypical clonal B-cell lymphoproliferation, small cells with prominent plasmacytic differentiation. Serum protein electrophoresis showed monoclonal gammopathy which was IgA. [ncbi.nlm.nih.gov]
Treatment
Abstract Rituximab is a monoclonal antibody that depletes B cells and is commonly used for the treatment of autoimmune diseases. [ncbi.nlm.nih.gov]
Etiology
The etiology of this disease is unknown. We described a 51-year-old woman who had a chronic sensory dominant polyneuropathy and dysautonomia associated with hypergammaglobulinemia. [ncbi.nlm.nih.gov]
Epidemiology
Epidemiology Frequency United States In 2003, the US XHIGM registry reported that the minimal incidence rate of XHIGM was approximately 1 in 1,000,000 live births from 1984-1993. [4] This may be an underestimation because not all physicians in the United [emedicine.com]
Pathophysiology
Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol. 2007. 94:275-306. [Medline]. Eijkhout HW, van Der Meer JW, Kallenberg CG, et al. [emedicine.com]
Prevention
[…] member of the following medical societies: Academy of Medicine of New Jersey, American Academy of Allergy Asthma and Immunology, American Academy of Hospice and Palliative Medicine, American Association of Public Health Physicians, American College of Preventive [emedicine.com]