Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype.

Familial cold inflammatory syndrome (FCAS) is a rare, inherited inflammatory disease characterized by episodes of fever, rash, and arthralgias after exposure to cold stimuli. Previous literature has established FCAS linked to autosomal dominant mutations in the NLRP3 (CIAS1) and NLRP12 genes. Moreover, there has been recent evidence of NLRC4-inflammasomopathies. Although there have been cases of FCAS secondary to missense mutations in NLRC4, we report the first symptomatic case associated with a 93-base-pair in-frame deletion within Exon 5 of the leucine rich repeat domain.

Specific Antibody Immunodeficiency Presenting With Streptococcal pneumonia-Induced Spontaneous Bacterial Peritonitis.

Specific antibody immunodeficiency (SAD) is a primary immunodeficiency disorder characterized by normal levels of serum immunoglobulins (IgG, IgA, and IgM) associated with a dysfunctional immune response. SAD is associated with recurrent infections in the setting of an insufficient response to polysaccharide vaccinations. Streptococcus pneumoniae is a well-established cause of respiratory infections in SAD. However, there has been a paucity of evidence of pneumococcal peritonitis in SAD patients, being reported as spontaneous in acquired immunodeficiency such as AIDS. We report the first case of S. pneumoniae-induced peritonitis as the presenting sign for SAD.

Rhinitis: The Osteopathic Modular Approach.

Historically, osteopathic principles have focused on the appropriate drainage of cranial structures to relieve symptoms of rhinitis, which include nasal congestion, anterior/posterior rhinorrhea, sneezing, and itching. Allergic rhinitis is primarily an aberrant immunologic reaction caused by cytokines secreted from lymphocytes that traverse the lymphatic pathway throughout the body. Several studies have documented that, when manipulated, the lymphatic system enhanced the motion of these lymphocytes to important immune structures in both human and animal models. Additionally, modulation of both sympathetic and parasympathetic outflow has been found either to inhibit or enhance secretion and/or drainage of important allergic sites. Osteopathic approaches to rhinitis play an effective role in the comprehensive management of rhinitis, and techniques based on these approaches are therapeutic options for rhinitis. This article provides an up-to-date literature review about the management of rhinitis using the 5 models of osteopathic medicine: biomechanical, respiratory-circulatory, metabolic, neurologic, and behavioral.

Post Autologous Bone Marrow Transplant Associated With a Resultant Mixed Polyclonal/Monoclonal Hyper-IgG3.

There have been few studies illustrating the post immunological phenotype of patients receiving autologous bone marrow transplant (ABMT) for the treatment of diffuse large B-cell lymphoma. High-dose chemotherapy and autologous bone marrow transplantation have been shown to be the only potential curative treatment modalities for B-cell lymphoma. Autologous bone marrow transplantation, although widely utilized in patients with non-Hodgkin lymphoma recurrence, does have an association with immunologic side effects, although serologic changes where rarely reported unless accompanied by recurrent infections. We report the first case of a 62-year-old female patient who experienced recurrent infections, namely, sinusitis and pneumonia, after receiving an ABMT with subsequent hyper-IgG3 phenotype.

Case Report: Postvaccination Anti-Myelin Oligodendrocyte Glycoprotein Neuromyelitis Optica Spectrum Disorder: A Case Report and Literature Review of Postvaccination Demyelination.

Stimulation of the immune response after vaccination can occasionally result in adverse effects, including demyelination of the central nervous system. The most common presentation of postvaccination demyelination is acute disseminated encephalomyelitis, but cases of optic neuritis, transverse myelitis, and multiple sclerosis relapses have been reported. More recently, an increasing number of postvaccination neuromyelitis optica spectrum disorder (NMOSD) cases have surfaced in the literature, especially in patients with aquaporin-4 antibodies. In this article, we report an unusual case of myelin oligodendrocyte glycoprotein antibody-related NMOSD after the receipt of multiple vaccines in a first-trimester pregnant woman from Africa. We review the reported cases of postvaccination demyelination in the past decade, with a focus on the relationship between NMOSD and vaccination in patients with aquaporin-4 or myelin oligodendrocyte glycoprotein antibodies. Finally, we discuss the clinical relevance of the present case and similar reported cases as it relates to patient care in the neuroimmunology clinic and identify potential areas for future research.