Asthma symptoms and specific IgE levels among toluene diisocyanate [TDI] exposed workers in Tehran, Iran

Toluene diisocyanate [TDI] is an imperative chemical substance used in the production of polyurethane foams, elastomers, paints and coatings that cause a variety of health problems in workers who are exposed in work places. This study aimed to determine the asthma symptoms and serum specific IgE levels in TDI exposed workers and comparing the results with healthy control group. All the plants that use TDI in the manufacturing of paint and glue in the west of Tehran Province entered to the study and all the workers [550] completed modified initial questionnaire of the NIOSH, the questions were consisted of asthma symptoms. For each symptomatic exposed worker one healthy, sex and age matched control selected. Total IgE and Specific TDI IgE tests were done for each case and control groups. Among 550 TDI exposed workers, 26[4.7%] had asthma symptoms. Nine [34.6%] of symptomatic workers who were exposed to TDI were active cigarette consumer versus 3[11.5%] unexposed workers, P=0.049[CI= 0.953-17.29] OR=4.059. Nine [34.6%] workers had positive family history of atopy versus 1[3.8%] unexposed workers, P=0.0138 [CI= 1.45-305.41] OR=13.24. TDI specific IgE was found in 2 TDI exposed workers and 1 unexposed worker [P=0.5]. Mean of total IgE was 339.05 in exposed workers [P=0.201]. This study provides clinical and paraclinical data of workers exposed to TDI and points to a relation between atopy and smoking habit with asthma symptoms that offer preventing recommendations for TDI exposed workers and their heath administrators

Two cases of syndromic neutropenia with a report of novel mutation in G6PC3

Severe congenital neutropenia [SCN] is a rare primary immunodeficiency. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR. Also, recently G6PC3 as a rare gene in SCN has been reported. Patients with G6PC3 often have cardiac and/or urogenital malformations. Two patients with persistent severe neutropenia, recurrent infections and maturation arrest at promyelocyte-myelocyte stage in their bone marrow were assessed in this study. Both patients showed structural heart disease and one of them also showed urogenital anomaly. Sequence analyses of G6PC3 in 2 patients revealed two different homozygous mutations, one in exon 6 [Asn 313 fs], and the other in exon 3 [Ser 139 Met], the latter is a new mutation which has not been reported in previous studies. It can be concluded that G6PC3 is one of the responsible gene for SCN in Iranian patients. Based on the results, a new mutation in G6PC3 observed in one patient

Study of alpha1-antitrypsin phenotypes frequencies in patients with primary antibody deficiency

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

Chronic mucocutaneous candidiasis; report of three cases with different phenotypes

Chronic Mucocutaneous Candidiasis [CMCC] refers to a group of immunodeficiencies, characterized by persistent or recurrent infections of the skin, nails, and mucus membranes caused by candida. A wide range of immunologic abnormality has been reported in CMCC. Defects in cellular limb of the immune system, mainly the specific response to antigens of candida species, are well documented in CMCC patients. A subgroup of patients is predisposed to development of autoimmune endocrinopathies. These patients need repeated monitoring of endocrine functions. Immunologic studies are needed to identify the extent of immunodeficiency and other abnormalities of immune functions. We report three cases of CMCC. These patients show different phenotypes and highlight the need for complete evaluation and long term follow-up for accompanying disorders

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. Nineteen cases [14 male and 5 female], with a mean age of 10.7 +/- 5.7 years, were associated with neutropenia [9.2%]. The disorders with associated neutropenia were Hyper IgM syndromes [3 of 8], Common variable immunodeficiency [13 of 109], and X-linked agammaglobulinemia [3 of 45]. The median age for the onset of disease and diagnosis age were 15 months [1-134] and 3.8 years [6 months-13 years], respectively. The most common infections during the course of illness were pneumonia [13 cases], diarrhea [12 cases], oral candidiasis [9 cases], otitis media [6 cases], sinusitis [6 cases], cutaneous infections [5 cases], and abscess [5 cases]. Other less frequent infections were: conjunctivitis, oral ulcers, meningitis, and osteomyelitis. Three neutropenic patients died because of recurrent infections. Neutropenia may occur in any of the primary immunodeficiency disorders. Persistent or severe infections always pose a supposition, which deserves further evaluation for detecting an underlying immune deficiency syndrome and neutropenia, since a delay in diagnosis may result in a serious organ damage or even death of the patient