Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency.

Gülsüm Alkan,İsmail Reisli,Sevgi Keles

doi:10.1155/2018/3527480

Abstract

Background Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production. Objectives This study aimed to promote the awareness of CVID, whose clinical spectrum is quite broad. Methods The demographic, clinical, and laboratory characteristics of 12 children (seven males and five females) with CVID were analyzed retrospectively. The patients were diagnosed using the diagnostic criteria of the European Society for Primary Immunodeficiencies. Results The median disease onset age was 7.2 ± 4.1 years, and the mean diagnosis age was 11.6 ± 3.7 years. The diagnosis delay was 4.3 ± 2.6 years, and the parental consanguinity rate was 75%. Most patients presented with recurrent infections, including upper respiratory tract infections (n = 8), lower respiratory tract infections (n = 9), and gastroenteritis (n = 5). In addition, growth retardation (n = 9) and bronchiectasis (n = 5) were common comorbidities. Two patients presented with autoimmune thrombocytopenia and anemia, and one patient exhibited lung empyema. All the patients had immunoglobulin G deficiencies. Conclusion CVID is a heterogeneous disease, so the diagnosis is frequently delayed. In the CVID patients with pulmonary complications, relationships were seen with the diagnosis delay, symptom onset age, and lung infection prevalence. Overall, the early diagnosis and treatment of PIDs can preclude life-threatening complications.

Highlights

Primary immunodeficiency disorders (PIDs) occur due to defects in the development or function of the innate or adaptive (B and T lymphocytes) immune system
Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production
Hypogammaglobulinemia may be primary or secondary, and the primary immunodeficiencies associated with immunoglobulin disorders include selective immunoglobulin (Ig) A deficiency, transient hypogammaglobulinemia of infancy, X-linked agammaglobulinemia (XLA), combined immunodeficiency (CID), common variable immunodeficiency (CVID), and hyper-IgM syndrome

Summary

Introduction

Primary immunodeficiency disorders (PIDs) occur due to defects in the development or function of the innate (macrophage, neutrophil, dendritic cell, and complement system) or adaptive (B and T lymphocytes) immune system. XLA is an inherited immunodeficiency disorder characterized by the absence of mature B cells, resulting in a severe antibody deficiency and recurrent infections. CVID patients may present to patients with XLA. Certain atypical XLA varieties with a delayed presentation are known to mimic CVID. These are characterized by the presence of B cells and antibody production, albeit in low numbers [2]. Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production. In the CVID patients with pulmonary complications, relationships were seen with the diagnosis delay, symptom onset age, and lung infection prevalence. The early diagnosis and treatment of PIDs can preclude life-threatening complications

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