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Common variable immunodeficiency is the most prevalent of the primary immunodeficiency diseases, yet its pathogenesis is largely poorly understood. Of the cases that are monogenic, many arise due to pathogenic variants in NFKB1 and NFKB2. Here, we report enteroviral encephalomyelitis as the cause of a fatal neurodegenerative condition in a patient with a novel heterozygous mutation in NFKB2 (c.2543insG, p.P850Sfs36*) that disrupts non-canonical NF-κB signaling. Investigations of primary and secondary lymphoid tissue demonstrated a complete absence of B cells and germinal centers. Despite multiple negative viral PCR testing of cerebrospinal fluid during her disease progression, post-mortem analysis of cerebral tissue revealed a chronic lymphocytic meningoencephalitis, in the presence of Cocksackie A16 virus, as the cause of death. The clinical features, and progression of disease reported here, demonstrate divergent clinical and immunological phenotypes of individuals within a single family. This is the first reported case of fatal enteroviral encephalomyelitis in a patient with NF-κB2 deficiency and mandates a low threshold for early brain biopsy and the administration of increased immunoglobulin replacement in any patient with a defect in this pathway and deterioration of neurological status.
This article was published in the following journal.
Name: Journal of clinical immunology
Common variable immunodeficiency (CVID) and IgG deficiency are two of the more prevalent primary humoral immune defects. Whereas the former is defined by consensus with criteria for quantitative and q...
Common variable immunodeficiency (CVID) is one of the most frequent primary immunodeficiencies and is characterized by disturbed immunoglobulin production and dysregulation of the immune system. Resul...
Common variable immunodeficiency (CVID) is a primary immunodeficiency due to a disorder of the adaptive immune system which causes hypogammaglobulinemia and therefore an increased susceptibility to in...
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency in adults. CVID is characterized by reduced serum levels of IgG, IgA, and/or IgM, recurrent bacterial in...
OBJECTIVES: I. Determine whether polyethylene-glycol-conjugated interleukin 2 (PEG-IL-2) can reduce the number of infections in patients with common variable immunodeficiency. II. Dete...
Patients receiving intravenous immunoglobulin (IVIG) therapy for primary immunodeficiency, specifically common variable immunodeficiency (CVID), may experience adverse drug reactions (ADRs...
This is an observational, case-control study with a single blood draw among two cohorts, patients with antibody deficiency (e.g., CVID) and healthy controls. Samples will be analyzed by ma...
8 to 22% of patients with common variable immunodeficiency (CVID) will develop Granulomatous Lymphocytic Interstitial Lung Disease (GLILD), which has emerged as a major cause of mortality....
A common group of viruses that infect humans are enteroviruses. Enteroviruses produce illnesses in children which may range from very mild (summer colds) to severe (infections of the brain...
Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.
A subgroup of the genus FLAVIVIRUS which comprises a number of viral species that are the etiologic agents of human encephalitis in many different geographical regions. These include Japanese encephalitis virus (ENCEPHALITIS VIRUS, JAPANESE), St. Louis encephalitis virus (ENCEPHALITIS VIRUS, ST. LOUIS), Murray Valley encephalitis virus (ENCEPHALITIS VIRUS, MURRAY VALLEY), and WEST NILE VIRUS.
A species of FLAVIVIRUS, one of the Japanese encephalitis virus group (ENCEPHALITIS VIRUSES, JAPANESE), found in Australia and New Guinea. It causes a fulminating viremia resembling Japanese encephalitis (ENCEPHALITIS, JAPANESE).
Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)
Polymerase Chain Reaction (PCR)
PCR (Polymerase Chain Reaction) uses the ability of DNA polymerase (enzymes that create DNA molecules by assembling nucleotides, the building blocks of DNA. These enzymes are essential to DNA replication and usually work in pairs to create two ident...
An antibody is a protein produced by the body's immune system when it detects harmful substances, called antigens. Examples of antigens include microorganisms (such as bacteria, fungi, parasites, and viruses) and chemicals. Antibodies may be produc...