Abdollahzade S, Aghamohammadi A, Soheili H, Salehi Sadaghiani M, Abolhassani H, Rezaei N,
Volume 68, Issue 10 (5 2011)
Abstract
Background: Common Variable Immunodeficiency (CVID)
is a primary immunodeficiency disease, characterized by hypogammaglobulinemia
and heterogeneous clinical manifestations. This study was performed to evaluate
the clinical and immunological features of pediatric patients with CVID.
Methods: We reviewed the records of 69 children diagnosed
under age of 16 years with CVID
(35 males and 34
females).
Results: By the year 2008, 15 patients (21%)
had died. The total follow-up period was 333
patient-years. The mean diagnostic time between onset and diagnosis in our
patient group was 4.40 years. The overall
rate of consanguineous marriages was 58%.
10 patients had a positive family history of
immunodeficiency. At the time of diagnosis, the mean levels of serum
immunoglobulin G (IgG),
IgM,
and IgA levels
were 286.86, 39.92, and 18.39
mg/dl, respectively which were below the normal levels for age. All of the
patients presented with infectious diseases at the time of onset, the most
common of which were pneumonia, diarrhea and sinusitis. Acute and recurrent
infections were also found in almost all of the patients, particularly
involving respiratory and gastrointestinal systems. The most common infections
during follow-up period were pneumonia (31.9%),
acute diarrhea (18.8%), acute sinusitis (18.8%),
and otitis media (14.5%). Post-diagnosis
survival was estimated to be 79% during the first
five years. The survival rate was not shown to be influenced by delayed
diagnosis, serum levels of IgG
and B-lymphocyte count at the time of diagnosis.
Conclusions: Any child with a history of recurrent infections, decreased levels of serum
immunoglobulin isotypes and consanguineous parents should be considered as a CVID
patient.
Asghar Aghamohammadi , Mohammadreza Shaghaghi , Hassan Abolhassani , Reza Yazdani , Seyed Mohsen Zahraie , Mohammad Mehdi Goya , Susan Mahmoudi , Nima Rezaei , Shohreh Shahmahmoodi ,
Volume 78, Issue 1 (April 2020)
Abstract
Primary immunodeficiency diseases (PIDs) is a diverse group of diseases, characterized by a defect in the immune system. These patients are susceptible to recurrent respiratory infections, gastrointestinal problems, autoimmune diseases, and malignancies. In most cases, patients with primary immunodeficiency disorders have genetic defects and are monogenic disorders that follow a simple Mendelian inheritance, however, some PIDs recognize a more complex polygenic origin. Overall, almost 70 to 90 percent of patients with primary immunodeficiency are undiagnosed. Given that these patients are exposing to respiratory infectious agents and some live-attenuated vaccines, thus they have a high risk to some clinical complications. The administration of oral polio vaccine in patients with PIDs especially can increase the possibility of acute flaccid paralysis. These patients will excrete the poliovirus for a long time through their feces, even though they are not paralyzed. Long-term virus proliferation in the vaccinated individuals causes a mutation in the poliovirus and creates a vaccine-derived polioviruses (VDPVs), which is a major challenge to the final stages of the worldwide eradication of polio.
To increase the diagnosis and identification of patients with immunodeficiency and carrying out a national plan for screening patients with immunodeficiency from the fecal excretion of the poliovirus, a possible polio epidemic can be prevented during post-eradication. Development of laboratory facilities in provincial and city centers, improvement of communications among physicians regarding medical consultation and establishment of referring systems for patients by national network lead to improve status of diagnosis and treatment of patients with primary immunodefiicencies. In this context, launching and activating the national network of immunodeficiency diseases is essential for improving the health of children and reducing the cost of the health system of the country. A national network of immunodeficiency can lead to increase awareness of physicians regarding primary immunodeficiency disorders, improve collaboration among physicians about genetic consultation and establish a practical referral system in Iran that results in increased diagnosis and improve treatment of patients with primary immunodeficiency disorders.
