Complement deficiency in pediatric-onset systemic lupus erythematosus.

Background: Pediatric-onset systemic lupus erythematosus (pSLE) accounts for about 10%-20% of all patients with SLE. Deficiencies in early complement components of the classical pathway are the strong genetic risk factor for the development of SLE. In this study, clinical and laboratory manifestations of both complement-deficient and normal complement pSLE patients were compared.

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

Background: Leukocyte adhesion deficiency type 1 (LAD I) is an autosomal recessive disorder caused by mutations in the ITGB2 gene, encoding the beta2 integrin family. Severe recurrent infections, impaired wound healing, and periodontal diseases are the main features of disease.

Methods: In order to investigate clinical and molecular manifestations of new LAD I cases, 11 patients diagnosed in one center during 7 years were studied.

Immunologic evaluation of patients with recurrent ear, nose, and throat infections.

Purpose: In this study, we aimed to study the frequency of possible underlying immunodeficiency responsible for susceptibility to ear, nose, and throat (ENT) infection.

Materials And Methods: One hundred three (72 males and 31 females) consecutive children and adult patients with history of recurrent or chronic ENT infections, referred by otolaryngologists to the Department of Allergy and Clinical Immunology, Children's Medical Center, Tehran University of Medical Sciences (Tehran, Iran), were enrolled to the study from March 2003 to March 2006. For each patient, demographic information and medical histories of any ENT infections were collected by reviewing the patient's records.

Evaluation of humoral immune function in patients with bronchiectasis.

Bronchiectasis is a chronic debilitating condition characterized by abnormal dilated thick-walled bronchi. To investigate humoral immune function in bronchiectatic patients, this study was performed. Forty patients with established diagnosis of bronchiectasis, who were referred from two tertiary care pulmonology centers in Tehran, were investigated in this study.

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

Introduction: Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in RAB27A gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis.

Materials And Methods: We describe the result of mutation analysis among nine patients from seven non-related Persian families.

Neutropenia in patients with primary antibody deficiency disorders.

Neutropenia is characterized by decrease in the absolute number of circulating neutrophils and an increase susceptibility to infections. The current study was performed in order to explain the clinical and laboratory findings of patients with antibody deficiency disorders associated neutropenia. The patients' records of 19 neutropenic cases out of 207 patients with antibody deficiencies, who had been referred to Children's Medical Center and enrolled in Iranian primary immunodeficiency registry, were reviewed.

Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry.

Primary immunodeficiency disorders (PID) are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. A total of 930 patients (573 males and 357 females) are registered in Iranian PID Registry (IPIDR) during three decades. Predominantly antibody deficiencies were the most common (38.

Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a primary immunodeficiency disease characterized by hypogammaglobulinemia and recurrent bacterial infections. The records of 65 patients with CVID (37 males and 28 females) in the age range of 24 to 537 months were reviewed. By the year 2003, 11 patients had died and seven patients could not be located.