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Mannose-binding lectin (MBL) is a protein of innate immune system that is involved in opsonization and complement activation. MBL deficiency is associated with predisposition to infectious diseases; however subnormal levels are also seen in healthy subjects. The aim of this study was to investigate the prevalence and clinical manifestation of MBL deficiency in patients with increased susceptibility to infection. We studied the MBL serum concentration of 104 patients with a history of recurrent and/or severe infections referred to Immunology, Asthma and Allergy Research Institute (IAARI) in order to evaluate the primary immunodeficiency (PID). The distribution of MBL deficiency in these patients and 593 healthy subjects of previous study were analyzed. The frequency of individuals with MBL deficiency was significantly higher in patients with recurrent and/or severe infections (13.5% [14/104]) compared with healthy subjects (4.7% [28/593]; p=0.001; OR 3.1, 95% CI 1.5-6.1). However, in 10.9% (7/64) of patients with recurrent infections without any immunodeficiency background, the MBL deficiency was detected. On the whole, our findings indicate an association between MBL deficiency and increased susceptibility to infections. [ABSTRACT FROM AUTHOR]

Hyperimmunoglobulin E Syndrome (HIES) is a complex primary immunodeficiency characterized by both immunologic and non-immunologic manifestations. High serum IgE level, eosinophilia, eczema, recurrent skin and lung infections constitute the immunologic profile of HIES, whereas characteristic facial appearance, scoliosis, retained primary teeth, joint hyperextensibility, bone fractures following minimal trauma and craniosynostosis are the main non-immunologic manifestations. The diagnosis of HIES cannot be made by routine immunologic tests. As the main characteristic laboratory abnormalities of this syndrome are highly elevated serum IgE levels and eosinophilia; both features have a broad spectrum of differential diagnosis. The purpose of this essay was presenting the best way for diagnosis management of HIES. Based on the genetic reports of patients of the Center for Chronic Immunodeficiency (CCI) as a single center experience, and applying project management (PM) in health care research projects, we sought the best way for a rapid diagnosis of HIES. The combination of project management principles with immunologic and genetic knowledge to better define the laboratory and clinical diagnosis lead to an improvement of the management of patients with HIES. These results are shown in one "Decision Tree" which is based on 342 genetic reports of the CCI during the past ten years. It is necessary to facilitate the diagnostic analysis of suspected HIES patients; applying project management in health care research projects provides a better and more accurate diagnosis eventually leading to a better patients' care. This Abstract was presented at 16th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2014), Prague, Czech Republic. [ABSTRACT FROM AUTHOR]

Objective: Hereditary Angioedema (HAE) is a rare autosomal dominant disorder that is caused by improper quantitative level or C1-inhibitor function and these lead to the HAE type I and type II, respectively. C1-inhibitor is a serine protease inhibitor, which controls the activation of complement system and regulation of the fibrinolytic, contact and coagulation systems. C1-inhibitor gene (SERPING1) is located in the q12-q13.1 sub-region of chromosome 11 and consists of eight exons. The aim of this study is genetic diagnosis of HAE type I patients. Material and Methods: The patients who referred to Immunology, Asthma & Allergy Research institute (IAARI) between Jan 2006 to Jan 2014 with clinical phenotype of HAE (subcutaneous angioedema, abdominal pain, laryngeal edema), were entered this study. Twenty HAE type I patients were evaluated for genetic analysis of SERPING1 gene based on low levels of C4 and C1-inhibitor. Blood samples were obtained from these patients and after the DNA extraction from EDTA treated blood samples, polymerase chain reaction (PCR) was accomplished for coding exons (exon 2 to 8) of SERPING1 gene and PCR products were sequenced and the results were analyzed by Finch TV program. Results: Among twenty patients from 15 families with HAE type I, 9 mutations in SERPING1 gene were identified in 12 patients. All mutations were in heterozygous state except one new homozygous missense mutation (c.440T>A) in a patient. The others including one splicing defect (c.51+2T>C) in intron 2, three frame shift mutations in exon four (c.650delG) and exon 8 (c.1356_1357delTG, c.1264delT), three missense mutations in exon 2 (c.5C>T), and exon 8 (c.1477G>A, c.1442T>C), and one nonsense (c.1480C>T) mutation in exon 8 which are previously reported. Conclusion: HAE is a life-threatening disease, and if laryngeal edema occurs possibly leads to death. Therefore, early genetic diagnosis in the families who carries the mutation with symptomatic or asymptomatic phenotype of disease could be helpful for prevention of acute edema and proper treatment in HAE patients and other family members. [ABSTRACT FROM AUTHOR]

Objective: Hereditary Angioedema (HAE) is a rare autosomal dominant disorder caused by low serum levels (type I) or dysfunction (type II) of C1 Inhibitor (C1INH), which is characterized by subcutaneous and/ or submucosal edema attacks involving face, limbs, genitalia, gastrointestinal and respiratory system. HAE could give rise to fatal laryngeal edema, acute abdominal pain leading to unnecessary emergency surgeries, and reduced quality of life. Therefore, the aim of this study was to investigate and report the demographic, clinical and laboratory findings of patients registered in Iranian HAE registry (IHAER). Material and Methods: The patients referred (2006-2016) to Immunology, Asthma and Allergy Research Institute (IAARI) with symptoms suggestive of HAE were investigated (after signing informed consent form) using a questionnaire and laboratory tests. The patients with a definite diagnosis of HAE (type I, II) based on low serum levels of C4 and C1INH quantity/quality accompanying with suggestive clinical findings (after ruling out other possible etiologies) were enrolled into this study. Moreover, in some cases genetic analysis reconfirmed laboratory results. Results: Among 80 patients registered in IHAER with definite diagnosis of HAE (Type I, II; 48.8%, 51.3%) 30 patients belonged to children and adolescents group (aged ≤ 21). The median symptoms age-onset and median diagnostic delay were 11 (min, max; 1, 72) and seven (min, max; 0, 39) years, respectively. Physical trauma (69.7%) and emotional stress (57.6%) were found to be the most common triggers of attacks; however, 82% of patients reported spontaneous attacks as well. The most commonly involved sites were face and limbs. Moreover, laryngeal edema was reported in 56.1% of patients leading to death in three patients during this study. Conclusion: HAE is a life-threatening disease diagnosed with significant delay possibly due to mistaking it for other disorders causing similar symptoms such as acute face and limbs edema. On the other hand, complete avoidance of emotional and physical stress as common HAE triggers could not be easily achieved. Thus, the outcomes of IHEAR in the form of scientific papers/reports is meant to inform health care providers, and policy makers about this rare disease, which would in turns, help with an earlier diagnosis, and improvement in patient care and quality of life. [ABSTRACT FROM AUTHOR]

Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by Cl-INH (Cl esterase inhibitor), low serum levels (type I), dysfunction (type II) or normal serum levels and function (type III), which lead to subcutaneous and submucosal edema attacks. The aim of this study was to investigate the demographic, clinical and laboratory findings of Iranian patients with HAE. Methods: The patients with a history or symptoms of angioedema who were referred to Immunology, Asthma and Allergy Research Institute (IAARI) between Jan 2006 and Jan 2014, were assessed based on a specific questionnaire and laboratory evaluation. The patients with a definite diagnosis of HAE type I and type II were entered into this study. Results: Among 51 patients, 63.3% were diagnosed with HAE type I and 36.7% with HAE type II. Fifteen patients were under 18 years and 36 were adults. The mean age of symptoms onset and diagnosis were 12.33 ± 10.20 years and 24.48 ± 14.64 years, respectively. The mean delay of diagnosis was 11.02 ± 11.60 years. The most commonly involved locations of edema were hands, face and genitalia. Moreover, laryngeal edema was observed in 61.2% of patients, which led to death in two patients during this study. Conclusion: Hereditary angioedema is a life threatening disease with considerable morbidity and mortality. The outcomes of this study can be used to inform clinicians and health care providers about HAE, which can help earlier diagnosis and better management of the patients, specifically in life threatening attacks. [ABSTRACT FROM AUTHOR]