Interleukin-6 and tumor necrosis factor-alpha gene polymorphisms in chronic idiopathic urticaria.

Background: This study was performed to evaluate association of gene polymorphisms among proinflammatory cytokines and susceptibility to chronic idiopathic urticaria (CIU).

Methods: Ninety patients with prolonged urticaria more than 6 weeks were included as case group. Single nucleotide polymorphisms (SNPs) of IL-6 (G/C -174, G/A nt565) and TNF-α (G/A -308, G/A -238) were evaluated, using polymerase chain reaction (PCR); and the results were compared to the control group.

Family study of pediatric patients with primary antibody deficiencies.

Common variable immunodeficiency (CVID) and selective IgA deficiency (SIGAD) are the most common primary antibody deficiencies. These two diseases may have coincidence in one family and SIGAD can progress to CVID which suggest common underlying genetic defects between SIGAD and CVID. This study was designed to find the prevalence of multiple cases in families of Iranian patients with CVID or SIGAD.

Autism in a child with common variable immunodeficiency.

Autism is a neurodevelopmental disorder, characterized by poor social interaction and communication impairment and repetitive behavior. Autism is considered as a genetic and multifactorial disorder, with diverse risk factors involved.Herein, we report a 13-year-old male with common variable immunodeficiency (CVID), who was diagnosed with autism at the age of 3 years old.

Psychiatric aspects of primary immunodeficiency diseases: the parental study.

Primary immunodeficiency diseases (PID) consist of a group of long-term illnesses which had permanent psychiatric effects on the patients and their parents. This study was designed to find out the most important origins and aspects of stressor in parents of PID patients.To assess the impact of psychiatric aspects in parents of PID patients, a valid and reliable questionnaire was compiled based on patients' complaints and consulting professionals in PID and psychology.

Investigation of underlying primary immunodeficiencies in patients with severe atopic dermatitis.

Background: Primary immunodeficiency diseases (PIDs) are a group of heterogeneous inherited disorders, characterised by recurrent infections, autoimmunity and malignancy. Some PIDs such as hyper IgE syndrome (HIES) and Wiskott-Aldrich syndrome (WAS) may be initially presented as atopic dermatitis (AD), especially in its severe form, resulting in diagnostic delay and poor prognosis of patients.

Objective: The aim of this study was to evaluate the frequency of PIDs among patients with severe AD and to determine factors that can help to raise suspicion towards these disorders.

AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency.

Background: Primary antibody deficiencies (PADs) are a heterogeneous group of disorders, characterised by increased susceptibility to recurrent bacterial infections. Common variable immunodeficiency (CVID) is the most important PAD from the clinical point of view and selective IgA deficiency (IgAD) is the most common PAD. However, the underlying gene defect in both is still unknown.

A review on guidelines for management and treatment of common variable immunodeficiency.

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency in adults. As symptoms of CVID are usually heterogeneous and unspecific, diagnosis and follow-up of CVID can be challenging. In light of this, a broad review of advances in management and treatment of CVID is performed here in order to reach a distinct protocol.

Evaluation of class switch recombination in B lymphocytes of patients with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders characterized by hypogammaglobulinemia and recurrent bacterial infections. Impaired antibody production in these patients is due to defect in B-cell differentiation into specific plasma cells. Class switch recombination (CSR), which plays a critical role in the production of different immunoglobulin isotypes, may be defective in a group of CVID patients.

Soluble CD26 and CD30 levels in patients with common variable immunodeficiency.

Background: Common variable immunodeficiency (CVID) is a heterogeneous group of disorders characterized by decreased serum immunoglobulin levels and increased susceptibility to recurrent bacterial infections. There is increasing evidence that the type 1 helper T cell (T(H)1)/T(H)2 cell balance is shifted towards a T(H) 1-type immune response in patients with CVID. This study was performed to measure levels of soluble CD26 (sCD26) and CD30 (sCD30) as plausible markers of a dysregulated immune response in a group of patients with CVID.

Association between the interleukin 6 genotype at position -174 and atopic dermatitis.

Background: Atopic dermatitis (AD) is a chronic skin disorder of unknown origin that usually manifests for the first time in early infancy. Different types of genetic predisposition and environmental factors seem to be associated with the disease.

Methods: This study was performed to evaluate the frequency of alleles, genotypes, and haplotypes of interleukin (IL) 6 single-nucleotide polymorphisms (SNPs) at positions -174 and nt565 in 89 Iranian children with AD and 139 healthy controls.

Evaluation of CD4+CD25+FOXP3+ regulatory T cells function in patients with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is one of the predominant antibody disorders where abnormalities in regulatory T cells (Tregs) may result in autoimmunity and chronic inflammation. To evaluate Tegs frequency and function, 13 CVID patients and 10 age- and sex-matched healthy volunteer were enrolled. The percentages of Tregs were calculated using flow cytomety method.

Evaluation of humoral immune function in patients with chronic idiopathic thrombocytopenic purpura.

Coincidence of autoimmune diseases such as immune thrombocytopenic purpura (ITP) with immunodeficiencies has been reported previously in patients who suffered from primary antibody deficiency (PAD). But there is no original study on immunological profiles of ITP patients to find out their probable immune deficiency. In this case-control study, ITP patients' humoral immunity was investigated for diagnosis of PAD in comparison with normal population.

Frequency and expression of inhibitory markers of CD4(+) CD25(+) FOXP3(+) regulatory T cells in patients with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is the most symptomatic primary antibody deficiency associated with recurrent infections and chronic inflammatory diseases as well as autoimmunity. CD4(+) CD25(+) FOXP3(+) regulatory T cells (Tregs) are critical T cell subsets for maintaining self-tolerance and regulation of immune response to antigens thus play a pivotal role in preventing autoimmunity. Thirty-seven CVID patients and 18 age-/sex-matched controls were enrolled.

Association of HLA-DRB1, DQA1 and DQB1 Alleles and Haplotypes with Common Variable Immunodeficiency in Iranian Patients.

Common Variable Immunodeficiency (CVID) is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency (IgAD). This study was designed to investigate the frequency of DR and DQ loci of HLA class II region in common variable immunodeficiency (CVID) patients. Fifteen Iranian patients with CVID or IgAD (mean age 14.

Spectrum of bone marrow failures of myeloid series: new report of neutropenic patients from a referral pediatric center in Iran.

Neutropenia is a reduction of the absolute neutrophil count (ANC), which could be seen in different conditions, while its association with a number of primary immunodeficiency diseases has been reported. This study was performed in all neutropenic patients who were admitted in a referral pediatric hospital during a 6-year period (2006-2011). One hundred and forty patients with ANC of below 1500/mm(3) were investigated in this study.

TNF-alpha single nucleotide polymorphisms in atopic dermatitis.

Tumor necrosis factor-alpha (TNF-α) could be considered as potential biomarkers in atopic dermatitis (AD), while its level could be influenced by cytokine single gene polymorphisms (SNP). This study was performed in 89 pediatric patients with AD and 137 controls to assess polymorphisms of the TNF-α gene at positions -308 and -238, using the polymerase chain reaction and the sequence-specific primers method. The highest positive allelic association that made the patients susceptible to AD was seen for TNF-α -238/G (p<0.

Association of single nucleotide polymorphisms of interleukin-1 family with atopic dermatitis.

Background: Interleukin-1 (IL-1) seems to have an important role in early reactions towards microbes, while its genetic variability could affect this role in atopic patients who have a distressed immunity towards dermatological infections.

Methods: Eighty-nine patients with atopic dermatitis (AD), who were referred to a main referral paediatric hospital, were enrolled in this study. Single nucleotide polymorphisms (SNP) of the following IL-1 cluster genes were assessed in this group of patients: IL-1α -889, IL-1β -511, IL-1β +3962, IL-1R Pst-I 1970, and IL-1RA Mspa-I 11100.

Comparing the effect of topical application of human milk and dry cord care on umbilical cord separation time in healthy newborn infants.

Objective: Comparing the effect of topical human milk application and dry cord care on cord separation time.

Methods: This research was a randomized clinical trial study on 130 singleton and mature newborns. Newborns were placed randomly in groups of topical application of human milk and dry cord care.

Evaluation of natural regulatory T cells in subjects with selective IgA deficiency: from senior idea to novel opportunities.

Background: Selective IgA deficiency (SIgAD) is the most common primary immunodeficiency disorder, which is characterized by significantly decreased serum levels of IgA. Abnormalities of CD4+CD25(high)forkhead box P3 (FoxP3)+ regulatory T cells (T(reg)) have been shown in association with autoimmune and inflammatory disorders.

Methods: In order to evaluate the relationship between autoimmunity and T(reg) in SIgAD, we studied 26 IgA-deficient patients (aged 4-17 years) with serum IgA levels <7 mg/dl, 26 age- and sex-matched healthy controls and 26 age- and sex matched idiopathic thrombocytopenic purpura cases with normal immune system.

Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.

The hyper-immunoglobulin M (HIGM) syndrome comprises a group of primary immunodeficiency disorders characterized by normal or elevated serum levels of IgM and low levels of other immunoglobulin classes. Patients with HIGM usually suffer from a variety of recurrent infections. Herein, we report two siblings of a Tajik family with a HIGM phenotype in which a novel missense mutation in the activation-induced cytidine deaminase (AICDA) gene was detected.

Debilitating progressive encephalitis in a patient with BTK deficiency.

X-linked agammaglobulinemia (XLA), also known as Bruton's tyrosine kinase (BTK) deficiency, is a primary antibody deficiency, characterized by low number of B cells, agammaglobulinemia and increased susceptibility to a variety of infections. Herein, we report a case of XLA with confirmed BTK mutation that developed neurological deficits. While we could not detect any responsible microorganism in spite of comprehensive workup, brain magnetic resonance imaging revealed moderate brain atrophy.

The approach to children with recurrent infections.

Recurrent and chronic infections in children are one of the most common reasons for physicians' visits that make a diagnostic challenge to pediatricians. Although the majority of referred children with recurrent infections are normal, underlying causes of recurrent infection such as atopy, anatomical and functional defects, and primary or secondary immunodeficiency must be considered in evaluation of children with this complaint.Although primary immunodeficiency diseases (PIDs) were originally felt to be rare, it has became clear that they are much more common than routinely appreciated.

Home-based subcutaneous immunoglobulin versus hospital-based intravenous immunoglobulin in treatment of primary antibody deficiencies: systematic review and meta analysis.

Immunoglobulin replacement by the subcutaneous route (SCIg) for the prophylactic treatment of primary or secondary antibody deficient patients has been introduced as an alternative to conventional intravenous administration (IVIg). This is a systematic review of all eligible studies comparing efficacy and safety of IVIg and SCIg. Retrospective and prospective cohort studies and randomized, controlled trials comparing SCIg to IVIg were identified from MEDLINE, EMBASE, CINAHL, AMED, CSR, ISI and Cochrane Database without restriction on publication date and language.