Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity

2020 ◽  
Vol 181 (9) ◽  
pp. 706-714 ◽  
Author(s):  
Mohammad Hossein Asgardoon ◽  
Gholamreza Azizi ◽  
Reza Yazdani ◽  
Mahsa Sohani ◽  
Salar Pashangzadeh ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Common Variable Immunodeficiency ◽  
Primary Immunodeficiency Disorder ◽  
Immunodeficiency Disorder ◽  
Common Variable

scholarly journals Common variable immunodeficiency disorder: a clinical case

2021 ◽  
Vol 23 (1) ◽  
pp. 185-190
Author(s):  
E. A. Sobko ◽  
I. V. Demko ◽  
I. A. Soloveva ◽  
A. Yu. Kraposhina ◽  
N. V. Gordeeva ◽  
...  
Keyword(s):  
Immune System ◽  
Primary Immunodeficiency ◽  
Common Variable Immunodeficiency ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Inherited Disorders ◽  
Age Cohorts ◽  
Immunodeficiency Disorder ◽  
Medical Network ◽  
Common Variable

Primary immunodeficiency is a rare congenital pathology associated with failure of immune system, manifested by disturbances of its functions. These defects lead to increased susceptibility of patients to various infectious agents, as well as the development of autoimmune, malignant and other diseases. Primary immunodeficiency is classified as a rare disease, which was previously associated with a poor prognosis with a high risk of mortality in childhood. To date, the emergence of highly effective treatment methods has changed the course and prognosis of these diseases. Clinicians of various specialties increasingly meet with this pathology in everyday practice, including adult age cohorts. In this regard, early diagnosis of primary immunodeficiency in adults becomes relevant, being associated with choosing optimal therapy, prevention of severe internal organ damage, determination of management strategy for the patient, as well as the need to identify inherited disorders and provide information to the patient’s family. Delayed verification of the diagnosis may cause disability of the patient and development of irreversible, often fatal complications. This article presents our own clinical case with a newly diagnosed clinical condition: Common variable immunodeficiency disorder (CVID), the most common form of primary immunodeficiency in adults. The symptoms of common variable immunodeficiency disorder appear in these patients in adulthood, but a high-quality collected history of the disease will allow you to trace symptoms in the patients even since early childhood. There is a common gap for several years between the onset of the disease and clinical diagnosis, since erroneous diagnosis is often made due to non-specific clinical symptoms that resemble other, more frequent diseases. The prognosis of patients with CVID depends on several factors: frequency of infections, structural disorders in the lungs, the occurrence of autoimmune diseases and the success of infection prevention. Thus, a variety of clinical forms of primary immunodeficiency, lack of awareness of doctors about this pathology, complexity of immunological examination in the general medical network lead to the fact that CVID is not diagnosed for long terms, and patients do not receive the necessary pathogenetic therapy. There is a need for drawing attention of doctors of various disciplines to the fact that the recurrent inflammatory processes of various localization, which are difficult to respond to adequate traditional therapy, may be caused by changes in the immune system, including congenital, genetically determined immunodeficiency.

scholarly journals Common variable immunodeficiency disorder associated with bronchiectasis: a case report

2021 ◽  
Vol 8 (3) ◽  
pp. 565
Author(s):  
Mohammad Zahirul Islam Khan ◽  
Kamrul Laila ◽  
Mohammed Mahbubul Islam ◽  
Mohammad Imnul Islam ◽  
Shahana Akhter Rahman
Keyword(s):  
Health Care Providers ◽  
Common Variable Immunodeficiency ◽  
Delayed Diagnosis ◽  
Gene Mutations ◽  
Growth Failure ◽  
Recurrent Infections ◽  
Care Providers ◽  
Immunodeficiency Disorder ◽  
Specific Antibody Production ◽  
Common Variable

Common variable immunodeficiency disorder (CVID) is the commonest type of primary immunodeficiency disorders (PIDs) characterized by hypogammaglobulinemia, defective specific antibody production and increased susceptibility of recurrent infections. Autoimmunity, neoplasm and lymphoproliferative disorders are usually associated with CVID. In most cases, the cause is unknown, but multiple gene mutations (10%) may be associated with CVID. Here, we report an eight years old girl with CVID presented with recurrent infections, growth failure, generalized lymphadenopathy and hepatosplenomegaly. Chest examination and radiological findings of this girl were consistent with bronchiectasis. Lack of awareness among health care providers is the reason for delayed diagnosis of several years for this girl. Therefore, it is essential to raise awareness regarding PID patients among the physicians to improve the quality of life.  

scholarly journals Common variable immunodeficiency – case report

2013 ◽  
Vol 3 (2) ◽  
pp. 170-172
Author(s):  
Emina Vukas ◽  
Aida Dizdarević ◽  
Senka Mesihović - Dinarević ◽  
Adisa Čengić
Keyword(s):  
T Cells ◽  
Dendritic Cells ◽  
Case Report ◽  
Immune System ◽  
Primary Immunodeficiency ◽  
Common Variable Immunodeficiency ◽  
Clinical Picture ◽  
Clinical Signs ◽  
Common Variable

Common variable immunodeficiency (CVID) or acquired hypogammaglobulinemia is the type of primary immunodeficiency. Deregulation of the immune system, leading to hypogammaglobulinemia, defective activation and proliferation of T cells and dendritic cells, and malfunction of the cytokines are observed in CVID. The clinical picture of CVID varies, any organ or system can be affected, therefore the diagnosis is often difficult and delayed and sometimes is not always possible. This article describes a twelve years old boy with all the clinical signs of immunodeficiency, as confi rmed by laboratory. The main treatment consists of life-long immunoglobulin substitution in intravenous or subcutaneous form.

Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing

2017 ◽  
Vol 54 (2) ◽  
pp. 261-268 ◽  
Author(s):  
Rohan Ameratunga ◽  
Klaus Lehnert ◽  
See-Tarn Woon ◽  
David Gillis ◽  
Vanessa L. Bryant ◽  
...  
Keyword(s):  
Genome Sequencing ◽  
Common Variable Immunodeficiency ◽  
Immunodeficiency Disorder ◽  
Common Variable
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