Common variable immunodeficiency – case report

© 2013 Emina Vukas et al.; licensee University of Sarajevo Faculty of Health Studies. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. UNIVERSITY OF SARAJEVO FACULTY OF HEALTH STUDIES ABSTRACT


INTRODUCTION
Recurrent infections are the big challenge for both pediatricians and general practitioners. Recurrent pneumonia and bronchitis, prolonged, unresponsive to standard treatment sinusitis or otitis should catch the doctor's attention and prompt him to diff erential diagnosis towards primary immunodefi ciency disease (PIDD). Such disorders occur in clinical practice very rarely, but they shouldn't be missed considering that early diagnosis provides rapid implementation of treatment and avoidance of complications. Common variable immunodefi ciency (CVID) or acquired hypogammaglobulinemia is the type of primary immunodefi ciency (1). 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 (2). Common variable immunodefi ciency frequency varies from 1 : 10 000 to 1 : 50 000, and the diagnosis is based on a reduced level of IgG and IgA and/or IgM, which is a consequence of impaired B cell development (3). Th e disease manifests itself between 5 and 10 years of age and between 20 and 40 years of age (4). Genetic basis of CVID is still unknown (1). Th e clinical picture of CVID varies, any organ or system can be aff ected, therefore the diagnosis is often diffi cult and delayed. Th ere is, however,a broad spectrum of clinical manifestations including recurrent infections of the respiratory tract and chronic lung disease, various autoimmune pathology, gastrointestinal disease, granulomatous infi ltrative diseases, lymphoproliferative disorders and malignancies (5). It is estimated that about 78% of patients underwent lower respiratory tract infection at least once before diagnosis of CVID (6). Recurrent infections, poorly responding to conventional antibiotics, can lead to the formation of bronchiectasis, which are particularly common medical

CASE REPORT
Open Access problem, leading to frequent hospitalization and severe respiratory impairment. Early diagnosis usually protects the patient against this complication, however, development of bronchiectasis occurs even in 30% of patients, despite optimal treatment (7,8). About 20% of CVID patients developed diff erent gastrointestinal pathology, such as infl ammatory bowel disease, protein-loss enteropathy, spru-like syndrome, chronic enteritis caused by Giardia lamblia or Campylobacter infection, celiac sprue (9,10).
Here, we report a case of 12 year boy with recurrent infections of the respiratory system who was diagnosed to have CVID.

CASE REPORT
Th e patient is twelve years old boy who was admitted to Department of Pediatric Allergy Immune Rheumatology with history of recurrent infections of the respiratory system, sinusitis, allergic rhinitis, allergies to nuts, conjunctivitis starting from the childhood. Bronchial asthma is diagnosed before three months. His medical history included severe swine fl u two years ago, tonsillectomy, appendectomy, infl ammation of the nail bed of thumbs on both legs, severe form of varicella. Every two weeks he has oral ulcers.  disease complications cause severe morbidity, the enormous heterogeneity in the clinical presentation of CVID. Failure to make a diagnosis at the early stage can result in complications of recurrent infections particularly those of the chest (8). Th e clinical relevance of under diagnosing this disorder is that it precludes appropriate management by the use of intravenous immunoglobulin (IVIG). Th e primary treatment of CVID is replacement of antibody by either an intravenous or subcutaneous route, usually in doses of 400 to 600 mg/kg body weight per month (1). Our patient is receiving a lower dose because still produces some immunoglobulin's. Th is dose is usually divided into once or twice a week, or every 2 weeks (for the subcutaneous route) or every 3 or 4 weeks (for the intravenous route). Although expensive, the use of IVIG can allow patients to lead a near normal life and perform productive work.

CONCLUSION
Th is case highlights the importance of increasing awareness among primary care doctors for suspecting and confi rming a diagnosis of CVID and to emphasize the need to perform basic laboratory tests and to determine immunoglobulin classes in clinical practice in patients with recurrent infections.
Although IVIG provides improvement in these patients, early diagnosis is the key to preventing signifi cant morbidity and mortality and improving prognosis.

Probable
Male or female patient who has a marked decrease of IgG (at least 2 SD below the mean for age) and a marked decrease in at least one of the isotypes IgM or IgA, and fulfi lls all of the following criteria: 1) Onset of immunodefi ciency at greater than 2 years of age 2) Absent isohemagglutinins and/or poor response to vaccines 3) Defi ned causes of hypogammaglobulinemia have been excluded Posible Male or female patient who has a marked decrease (at least 2 SD below the mean for age) in one of the major isotypes (IgM, IgG and IgA) and fulfi lls all of the following criteria: 1) Onset of immunodefi ciency at greater than 2 years of age 2) Absent isohemagglutinins and/or poor response to vaccines 3) Defi ned causes of hypogammaglobulinemia have been excluded