Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children.
نویسندگان
چکیده
OBJECTIVES We analyzed the clinical features of 138 patients with primary immunodeficiency (PID) and performed genetic testing on a subset of patients in order to complete gaps in research on PID in South China and thus improve pediatricians' ability to recognize and diagnose PID. METHODS We performed a retrospective analysis based on the medical records of PID patients hospitalized in our institution between May 1999 and June 2012. Gene sequencing was performed in 59 cases. RESULTS Children with PID usually present with fever and repeated infections that generally affect the respiratory and digestive tracts. Growth retardation is observed in some cases. Of the 138 patients, 113 were boys, median age at onset was 5 months (range, 0-119 months), and age at diagnosis was 10 months (2-159 months). A family history of repeated infection or death of family members in infancy because of recurrent infections was recorded in 20 cases (14.49%). Antibody defects were detected in 48 cases (34.78%), combined immunodeficiency disease in 45 cases (32.61%), and other well-defined immunodeficiency syndromes in 45 cases (32.61%). Of the 59 patients from the genetic subanalysis, 24 (15.94%) had a genetic mutation (x-linked agammaglobulinemia, 8 cases; severe combined immunodeficiency, 8 cases; hyperimmunoglobulin M syndrome, 3 cases; hyperimmunoglobulin E syndrome, 3 cases; chronic granulomatous disease, 2 cases). We detected 4 novel mutations. No relevant mutations were found in the remaining 35 cases.After treatment with intravenous immunoglobulin and anti-infectious agents, 16 patients died in hospital, and 5 cases died after discontinuing treatment (mortality, 15.22%). CONCLUSIONS In recent years, the number of patients with PID has risen gradually in South China. Genetic testing can confirm diagnosis. Since PID seriously affects children's quality of life, it is important to diagnose, treat, and intervene early.We hope our clinical and genetic analyses of children with PID can provide diagnostic guidance for clinicians.
منابع مشابه
Primary Antibody Deficiencies at Queen Rania Children Hospital in Jordan: Single Center Experience
Background: Primary antibody deficiency, the most common primary immunodeficiency disorder, represents a heterogeneous spectrum of conditions caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies. Objective: This retrospective study aimed at description and analysis of demographic, clinical, im...
متن کاملPyoderma Vegetans: A Case Report in a Child Suspected to Primary Immunodeficiency and Review of the Literature
Pyoderma vegetans (PV) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD), chronic malnutrition, human immunodeficiency virus (HIV), malignancies, and other immunocompromised states. Pyoderma vegetans occurs more commonly in young and...
متن کاملPrimary 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 Mendelia...
متن کاملPrevalence of Primary Immunodeficiency Diseases in Kerman, Southeast of Iran
Objective: Primary immunodeficiency diseases (PID) are rare and heterogeneous congenital diseases leading to increased unusual susceptibility to developing infections and causingsome malignancies and autoimmune diseases. This study was conducted to evaluate the epidemiological characteristics of primary these diseases in patients attending the clinic of immunodeficiency diseases in Kerman.Subje...
متن کاملDistribution of Primary Immunodeficiency Disorders Diagnosed in a Tertiary Referral Center, Tehran, Iran (2006-2013)
Background: Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy. Objective: To evaluate the demographic and clinical data of PID patients diagnosed in a referral pediatric hospital. Method: All PID cases with a confirmed diagnosis,...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of investigational allergology & clinical immunology
دوره 23 5 شماره
صفحات -
تاریخ انتشار 2013