scholarly journals Peripheral Neuropathy Due to Common Variable Immunodeficiency: Case Report and Narrative Review

2019 ◽  
Vol 5 ◽  
pp. 233372141985064
Author(s):  
Christopher P. Long ◽  
Hiroshi Suzuki ◽  
Kenneth Vitale
Keyword(s):  
Nervous System ◽  
Peripheral Neuropathy ◽  
Lower Extremity ◽  
Common Variable Immunodeficiency ◽  
Axonal Neuropathy ◽  
Insidious Onset ◽  
Immune Deficiencies ◽  
Fall Risks ◽  
Rehabilitation Clinic ◽  
Common Variable

A 63-year-old woman with common variable immunodeficiency (CVID) presented with 1 year of insidious onset lower extremity pain and weakness. She underwent a circuitous workup, failed to improve despite treatment for various presumed diagnoses. She presented to a University physical medicine and rehabilitation clinic with continued symptoms. Electrophysiologic testing was recommended revealing a lower extremity motor greater than sensory axonal neuropathy. While CVID has known central nervous system complications, to our knowledge, this represents the second known reported case of peripheral neuropathy. We review the literature on CVID and summarize neurological disease mechanisms and manifestations. Although peripheral neuropathy is a rarely documented complication of CVID, providers need to be aware of potential peripheral nervous system complications of primary immune deficiencies such as CVID due to its significant impact on physical performance, balance, and fall risks.

Increased Prevalence of Neoplasms In Patients Diagnosed with Common Variable Immunodeficiency.

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1531-1531
Author(s):  
William J Grossman ◽  
Patrick O Bonnet ◽  
Yan Xiong
Keyword(s):  
Common Variable Immunodeficiency ◽  
Matched Control ◽  
Malignant Neoplasm ◽  
Antibody Responses ◽  
Control Cohort ◽  
Diagnosis Code ◽  
Hematopoietic Tissue ◽  
Increased Risk ◽  
Immune Deficiencies ◽  
Common Variable

Abstract Abstract 1531 Introduction: Common variable immunodeficiency (CVID) is a heterogenous disorder characterized by hypogammaglobulinemia, poor specific antibody responses, and increased numbers of infections. In addition, patients with CVID have been reported to carry an increased risk of developing other co-morbidities, including autoimmunity and certain types of neoplasms. Data establishing the overall risk and prevalence of these co-morbidities in patients with CVID has been limited due to the small sizes of patient cohorts examined to-date, and the lack of comprehensive primary immunodeficiency registries. The objective of this study was to document the prevalence rates of lymphoma select neoplasms in a large cohort of patients with CVID. Methods: The MedStat MarketScan database, which contains approximately 48 million patients, was evaluated for the number of IVIG-treated CVID patients using the 279.06 ICD-9 code for CVID over a 6-year period (2002-2008). Ten-fold the number of randomly selected patients, based on age, gender and length of enrollment, were used for matched control comparisons to our CVID cohort. Each cohort was evaluated for the rate of select neoplasms using ICD-9 codes for malignant lymphatic and hematopoietic tissue neoplasms (ICD-9 codes 200 to 208). Results: 814 CVID patients with at least 18 months of data were identified in the database, with 61% being female and 39% being male. The average age for females and males was 45 and 37 years, respectively (p<.0001). The CVID cohort carried a significantly higher prevalence of having a diagnosis code for a malignant neoplasm of the lymphatic and hematopoietic tissue than the control cohort [10.1% vs. 0.6%, respectively (p<.0001)]. Most of these neoplasm diagnoses occurred after the diagnosis of their CVID; however, 26.8% of neoplasm diagnoses occurred before the diagnosis of CVID. Additionally, the rates for each of the select neoplasms examined showed a significantly higher rate in the CVID cohort than in the control cohort. Conclusions: This study showed that CIVD patients have a higher prevalence of being co-diagnosed with certain neoplasms than matched controls. These data also suggest that CVID patients should not only be evaluated longitudinally for the development of neoplasms, but that certain cancer patients may also need to be considered and evaluated for underlying immune deficiencies such as CVID. Disclosures: Grossman: Baxter BioScience: Employment. Bonnet:Baxter BioScience: Employment. Xiong:BioScience: Employment.

scholarly journals The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID)

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Atil Bisgin ◽  
Ozge Sonmezler ◽  
Ibrahim Boga ◽  
Mustafa Yilmaz
Keyword(s):  
Common Variable Immunodeficiency ◽  
Genetic Variants ◽  
Disease Susceptibility ◽  
Rare Variants ◽  
Low Frequency ◽  
Blood Leukocytes ◽  
Population Frequency ◽  
Immune Deficiencies ◽  
The Impact ◽  
Common Variable

AbstractNext Generation Sequencing (NGS) has uncovered hundreds of common and rare genetic variants involved in complex and rare diseases including immune deficiencies in both an autosomal recessive and autosomal dominant pattern. These rare variants however, cannot be classified clinically, and common variants only marginally contribute to disease susceptibility. In this study, we evaluated the multi-gene panel results of Common Variable Immunodeficiency (CVID) patients and argue that rare variants located in different genes play a more prominent role in disease susceptibility and/or etiology. We performed NGS on DNA extracted from the peripheral blood leukocytes from 103 patients using a panel of 19 CVID-related genes: CARD11, CD19, CD81, ICOS, CTLA4, CXCR4, GATA2, CR2, IRF2BP2, MOGS, MS4A1, NFKB1, NFKB2, PLCG2, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1 and TTC37. Detected variants were evaluated and classified based on their impact, pathogenicity classification and population frequency as well as the frequency within our study group. NGS revealed 112 different (a total of 227) variants with under 10% population frequency in 103 patients of which 22(19.6%) were classified as benign, 29(25.9%) were classified as likely benign, 4(3.6%) were classified as likely pathogenic and 2(1.8%) were classified as pathogenic. Moreover, 55(49.1%) of the variants were classified as variants of uncertain significance. We also observed different variant frequencies when compared to population frequency databases. Case–control data is not sufficient to unravel the genetic etiology of immune deficiencies. Thus, it is important to understand the incidence of co-occurrence of two or more rare variants to aid in illuminating their potential roles in the pathogenesis of immune deficiencies.

scholarly journals Common Variable Immunodeficiency and Other Immunodeficiency Syndromes in Bronchiectasis

2021 ◽  
Vol 42 (04) ◽  
pp. 525-536
Author(s):  
Pamela J. McShane
Keyword(s):  
Common Variable Immunodeficiency ◽  
Immunoglobulin E ◽  
Disease Process ◽  
Signs And Symptoms ◽  
Vast Number ◽  
Graft Versus Host ◽  
Immunodeficiency Virus ◽  
Immune Deficiencies ◽  
Phosphoinositide 3 Kinase ◽  
Common Variable

AbstractImmunodeficiency represents a vast number of diseases and syndromes. Both primary and secondary forms of immunodeficiency are important contributors to the development of bronchiectasis. Primary immune deficiencies, in particular, are increasingly identified and defined as contributors. Specific immune deficiencies that are closely associated with bronchiectasis and as discussed in this article are common variable immunodeficiency, specific antibody deficiency, immunodeficiencies involving immunoglobulin E, DOCK8 immunodeficiency, phosphoglucomutase 3 deficiency, activated phosphoinositide 3-kinase delta syndrome, and X-linked agammaglobulinemia. Each of these primary immune deficiencies has unique nuances. Vigilance for these unique signs and symptoms is likely to improve recognition of specific immunodeficiency in the idiopathic bronchiectasis patient. Secondary forms of immunodeficiency occur as a result of a separate disease process. Graft versus host disease, malignancy, and human immunodeficiency virus are three classic examples discussed in this article. An awareness of the potential for these disease settings to lead to bronchiectasis is necessary to optimize patient care. With understanding and mindfulness toward the intricate relationship between bronchiectasis and immunodeficiency, there is an opportunity to elucidate pathophysiologic underpinnings between these two syndromes.

EBV-Positive Primary Central Nervous System Lymphomas in Monozygote Twins with Common Variable Immunodeficiency and Suspected Multiple Sclerosis

1997 ◽  
Vol 28 (1-2) ◽  
pp. 187-193 ◽  
Author(s):  
Morten Krogh Jensen ◽  
Niels Koch-henriksen ◽  
Preben Johansen ◽  
Kim Varming ◽  
Claus Bohn Christiansen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Common Variable Immunodeficiency ◽  
Common Variable

scholarly journals Clinical Progression of Giant-Axonal Neuropathy over a Twelve Year Period

1981 ◽  
Vol 8 (4) ◽  
pp. 321-323 ◽  
Author(s):  
Joseph M. Dooley ◽  
Yasufumi Oshima ◽  
Laurence E. Becker ◽  
E. Gordon Murphy
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Peripheral Neuropathy ◽  
Clinical Course ◽  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy ◽  
Clinical Progression ◽  
Central Nervous System Dysfunction ◽  
Curly Hair

ABSTRACT:Giant-axonal neuropathy (GAN), a chronic peripheral neuropathy with associated Central Nervous System dysfunction and tight curly hair, is described in a 17-year-old girl. Biopsies of this girl’s muscle and nerve are characteristic of this condition. Her clinical course over a 12 year period characterizes a disease of a slowly progressive nature.

scholarly journals The Central Nervous System Effects and Mimicry of Common Variable Immunodeficiency (CVID): A Case Report with Literature Review

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Sohail Farshad ◽  
Fernando Figueroa Rodriguez ◽  
Alexandra Halalau ◽  
Joseph Skender ◽  
Cory Rasmussen ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Literature Review ◽  
Common Variable Immunodeficiency ◽  
Respiratory Infections ◽  
Neurological Complications ◽  
Treatment Team ◽  
Treatment Regimens ◽  
The Central Nervous System ◽  
Common Variable

There is a scarceness of information on the central nervous system effects of common variable immunodeficiency (CVID). A 30-year-old woman with a history of recurrent upper respiratory infections, vitiligo, and immune thrombocytopenic purpura presented with right-sided numbness. Magnetic resonance imaging (MRI) of the thoracic spine revealed a signal hyperintensity. MRI of the brain demonstrated FLAIR hyperintensity in the right middle frontal gyrus. Cerebral spinal fluid was unremarkable. Serum immunoglobulins revealed hypogammaglobulinemia. Endobronchial and subsequent mediastinum biopsies were all negative for sarcoidosis and malignancy. No infectious etiology was found. She was treated with glucocorticoids and intravenous immunoglobulin (IVIG) replacement therapy for CVID-associated myelitis. Follow-up MRI showed improvement; however, her numbness persisted despite these treatments, which led to an outside physician adding methotrexate for their suspicion of sarcoidosis. Her symptoms remained stable for two years, but when the methotrexate dose was weaned, her numbness worsened. Upon review, the treatment team refuted the diagnosis of sarcoidosis but continued treatment with prednisone, IVIG, and methotrexate for CVID-associated myelitis, from which her symptoms have stabilized. Here, we discuss CVID-associated neurological complications, its similarities to sarcoidosis, and a literature review with treatment regimens and outcomes.

scholarly journals Case Report and Review of the Literature:Toxoplasma gondiiEncephalitis in a 40-Year-Old Woman with Common Variable Immunodeficiency and a New Diagnosis of Large Granular Lymphocytic Leukemia

2008 ◽  
Vol 19 (4) ◽  
pp. 309-310 ◽  
Author(s):  
Adam Hofmann ◽  
Gerasimos Zaharatos ◽  
Mark Miller
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Common Variable Immunodeficiency ◽  
Lymphocytic Leukemia ◽  
Newly Diagnosed ◽  
Review Of The Literature ◽  
Central Nervous System Infections ◽  
Large Granular Lymphocytic Leukemia ◽  
New Diagnosis ◽  
Common Variable

Toxoplasma gondiihas been well-documented to cause central nervous system infections in immunodeficient patients. The present study describes a case of central nervous system toxoplasmosis in a patient with common variable immunodeficiency and newly diagnosed large granular lymphocytic leukemia, with a review of the literature for this association.

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