ABSTRACT
Drug Rash with Eosinophilia and Systemic Symptoms [DRESS] is a potentially life-threatening, complex, and multifaceted disease which may imitate other grave conditions. It presents with cutaneous drug eruptions, fever, hematologic abnormalities [an eosinophil count of 1500/mm3 or atypical lymphocytosis], and systemic involvement including hematologic, renal, pulmonary, hepatic, cardiac, gastrointestinal, neurologic, and endocrine abnormalities. Anticonvulsant therapies [mainly carbamazepine] are among the most important causative drugs. Herein we present a10-year-old girl who developed skin rash, systemic symptoms, marked eosinophilia, and kidney involvement following anticonvulsive treatment with Phenobarbital and sodium valproate. She experienced multiple hospitalizations due to an improper diagnosis and management.Drug Induced Hypersensitivity Syndrome [DIHS] is a severe life-threatening disorder which mostly occurs due to aromatic anticonvulsive drugs. The disease may mimic other serious conditions and delay in the diagnosis and improper treatment may cause organ involvement and more severe outcomes
ABSTRACT
Primary antibody deficiencies are the most frequent primary immunodeficiency disorders. Bronchiectasis as a feature of these disorders may be developed due to some factors such alpha-1-antitrypsin deficiency. In order to determine the prevalence of two common alpha-1-antitrypsin deficiency alleles [PI*Z and PI*S] in Iranian patients with antibody deficiency, this study was performed. The prevalence of PI*M, PI*S, and PI*Z allele combinations was determined in 40 patients with primary antibody deficiency [with and without bronchiectasis] and compared with 60 healthy control subjects. Phenotyping was performed by isoelectric focusing. The phenotype frequencies among patients were as follow: M in 92.5%, S in 2.5% and Z in 5%. There was not any significant difference in distribution of alleles or phenotypes between patients and control subjects. Moreover, no significant difference was found between patients with and without bronchiectasis. We did not find evidence to support an association between alpha-1-antitrypsin phenotypes and primary antibody deficiencies in a small, controlled study. Larger studies will be required to clarify the relationship between alpha-1-antitrypsin genotype and susceptibility to bronchiectasis in patients with antibody deficiency
ABSTRACT
Primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. We constructed the DNA banking of primary immunodeficiency disorders for the first time in Iran. The DNA of 31 immunodeficient patients and their families [total of 92 samples] were collected, as the first step for construction of DNA banking. DNA was isolated from whole blood by salting out method. Among our patients, Common variable immunodeficiency was the most common disorder, followed by X-linked agammaglobulinemia, Ataxia-telangiectasia, Chronic granulomatous disease, Severe combined immunodeficiency, Hyper IgM syndromes, and Leukocyte adhesion defects. DNA banking is a useful method for further detection of mutation in immunodeficient patients and prenatal diagnosis for presence or absence of the disorder in the fetus which can be confirmed by molecular genetics testing