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]

• Long Arm

  This gene is located on the long arm of the X chromosome at position 26, denoted Xq26. Normally, CD40 ligand is expressed on activated T cells, and is necessary to induce immunoglobulin class switching from IgM to the other immunoglobulin types. [en.wikipedia.org]

• 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]

• Suggestibility

  The data suggest that measuring serum anti-F(ab')2 is misleading when immune complexes are present: apparent increases as disease progresses are due to increased IgG and, possibly, to related technical artifacts. [ncbi.nlm.nih.gov]

• Seizure

  Abstract A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. [ncbi.nlm.nih.gov]

• Liver Biopsy

  CASE REPORT: We present a forty-year-old woman with anemia, renal insufficiency and abnormal liver function test. Liver biopsy showed atypical clonal B-cell lymphoproliferation, small cells with prominent plasmacytic differentiation. [ncbi.nlm.nih.gov]

Abstract Rituximab is a monoclonal antibody that depletes B cells and is commonly used for the treatment of autoimmune diseases. [ncbi.nlm.nih.gov]

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 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 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]

[…] 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]