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View article: Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry Open
Background The majority of monogenic inborn errors of immunity presenting as actinopathies were reported originally from the Middle East and North Africa (MENA) countries indicating a high prevalence of these entities in the region. Howeve…
View article: Disseminated Bacille Calmette-Guérin Vaccine-Induced Disease in a Sample of Iranian Children: A Longitudinal Case-Series Study
Disseminated Bacille Calmette-Guérin Vaccine-Induced Disease in a Sample of Iranian Children: A Longitudinal Case-Series Study Open
Background: Approximately a quarter-million Iranian newborns receive the Bacille Calmette-Guérin (BCG) vaccine annually. However, in immunodeficient infants, this vaccine can lead to disseminated BCG disease (DBD). Objectives: This study a…
View article: Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort
Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort Open
Patients with very early-onset inflammatory bowel disease (VEO-IBD) may present because of underlying monogenic inborn errors of immunity (IEI). Strong differences have been observed in the causes of monogenic IBD among ethnic populations.…
View article: Antiepileptic Medication-induced Severe Cutaneous Adverse Reactions in Hospitalized Children: A Retrospective Study
Antiepileptic Medication-induced Severe Cutaneous Adverse Reactions in Hospitalized Children: A Retrospective Study Open
There are limited data on severe cutaneous adverse reactions (SCARs) associated with antiepileptic medications. The current study aims to investigate the clinical and epidemiological characteristics of antiepileptic medication-induced SCAR…
View article: Clinical heterogeneity in families with multiple cases of inborn errors of immunity
Clinical heterogeneity in families with multiple cases of inborn errors of immunity Open
View article: Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity
Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity Open
Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI di…
View article: Clinical, immunological, and genetic findings in Iranian patients with MHC-II deficiency: confirmation of c.121delG RFXANK founder mutation in the Iranian population
Clinical, immunological, and genetic findings in Iranian patients with MHC-II deficiency: confirmation of c.121delG RFXANK founder mutation in the Iranian population Open
Purpose: Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4+ T-cells results in combined immunodeficiency. Patients typically present with severe res…
View article: Metformin-Induced Generalized Bullous Fixed-Drug Eruption with a Positive Dechallenge-Rechallenge Test: A Case Report and Literature Review
Metformin-Induced Generalized Bullous Fixed-Drug Eruption with a Positive Dechallenge-Rechallenge Test: A Case Report and Literature Review Open
Metformin is a commonly used medication in diabetic patients. It can cause different complications including cutaneous adverse reactions. Metformin-induced fixed-drug eruption (FDE) has been reported in limited cases. Due to the popularity…
View article: Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry Open
View article: Epidemiology, Sociodemographic Factors and Comorbidity for Allergic Rhinitis, Asthma, and Rhinosinusitis Among 15 to 65-year-Old Iranian Patients
Epidemiology, Sociodemographic Factors and Comorbidity for Allergic Rhinitis, Asthma, and Rhinosinusitis Among 15 to 65-year-Old Iranian Patients Open
Background: It is well established that upper and lower airways are often clumped together when diagnosing and treating a disease. This study was designed to determine the prevalence of upper and lower airway diseases and to assess …
View article: An unusual cause of facial wound in a child: Hyper <scp>IgE</scp> syndrome‐associated Noma neonatorum
An unusual cause of facial wound in a child: Hyper <span>IgE</span> syndrome‐associated Noma neonatorum Open
A 4-month-old failure to thrive (FTT) infant presented with large ulcerative ecthyma-like lesions on the face. Five days before the well-developed facial wound, a small area of erythematous papule and plaque was appeared on the right cheek…
View article: The Effectiveness of Synbiotic on the Improvement of Clinical Symptoms in Children with Eosinophilic Esophagitis
The Effectiveness of Synbiotic on the Improvement of Clinical Symptoms in Children with Eosinophilic Esophagitis Open
Background. Eosinophilic esophagitis (EoE) is an allergic inflammatory disorder of the esophagus. Today, probiotics are included as adjuvant therapy in the treatment of allergic diseases. The aim of this study was to assess the effect of s…
View article: Clinical and Epidemiological Features of Patients with Drug-Induced Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Iran: Different Points of Children from Adults
Clinical and Epidemiological Features of Patients with Drug-Induced Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Iran: Different Points of Children from Adults Open
Background. Different epidemiologic aspects of drug-induced Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in children are scarce. Aim. To compare the clinical and epidemiological features of patients with drug-induced…
View article: The Association between Celiac Disease and Eosinophilic Esophagitis among Children, in Isfahan, Iran
The Association between Celiac Disease and Eosinophilic Esophagitis among Children, in Isfahan, Iran Open
Background: The prevalence of eosinophilic esophagitis (EoE) has increased in recent decades. Recent studies have found that the prevalence of EoE in patients with celiac disease (CD) is much higher compared with the general population. In…
View article: Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency Open
This cohort provides the largest analysis for clinical and immunological features of MALT1 deficiency. HSCT should be offered as a curative therapeutic option for all patients at the early stage of life.
View article: Prevalence of nephrocalcinosis in children with congenital adrenal hyperplasia
Prevalence of nephrocalcinosis in children with congenital adrenal hyperplasia Open
Background: We aimed to investigate the prevalence of nephrocalcinosis (NC) among children with diagnosed congenital adrenal hyperplasia (CAH). Our findings would be helpful for earlier diagnosis, management, and prevention of NC-related c…
View article: Consensus Middle East and North Africa Registry on Inborn Errors of Immunity
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity Open
Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burde…
View article: Author response for "Autoimmune Manifestations among Patients with Monogenic Inborn Errors of Immunity"
Author response for "Autoimmune Manifestations among Patients with Monogenic Inborn Errors of Immunity" Open
View article: Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency
Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency Open
View article: Global systematic review of primary immunodeficiency registries
Global systematic review of primary immunodeficiency registries Open
Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more re…
View article: Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency Open
Biallelic mutations in the genes encoding CD27 or its ligand CD70 underlie inborn errors of immunity (IEIs) characterized predominantly by Epstein-Barr virus (EBV)-associated immune dysregulation, such as chronic viremia, severe infectious…
View article: Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome Open
The prevalence of primary immunodeficiency (PID) is rather high in Iran compared to the world average, mainly due to the high rate of consanguineous marriage. Despite that, little genetic information is available about primary immunodefici…
View article: Demographic, Clinical, and Allergic Characteristics of Children with Eosinophilic Esophagitis in Isfahan, Iran
Demographic, Clinical, and Allergic Characteristics of Children with Eosinophilic Esophagitis in Isfahan, Iran Open
Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease isolated to the esophagus Food allergy is thought to play an important role in the pathophysiology of EOE. The aim of this study is to evaluate demographic features and se…
View article: Effect of Fish Oil on the Level of Interferon Gamma on the Breast Milk of Atopic Mothers: A Randomized Clinical Trial
Effect of Fish Oil on the Level of Interferon Gamma on the Breast Milk of Atopic Mothers: A Randomized Clinical Trial Open
Background: The prevalence of allergic diseases is increasing worldwide. The effective role of omega-3 fatty acids in the maturation of immune system and protection against atopic diseases has been well discussed. However, previous studies…
View article: Survey on the Prevalence of Allergic Rhinitis in Junior High School Students in Isfahan, Iran
Survey on the Prevalence of Allergic Rhinitis in Junior High School Students in Isfahan, Iran Open
Background Allergic rhinitis (AR) is a common form of nose inflammatory disease that occurs when the mucosal immune system overreacts to environmental allergens especially in the air. It’s absolutely clear that the prevalence of AR varies …
View article: Seroprevalence of Toxocara Canis In Asthmatic Children and its Relation to the Severity of Diseases
Seroprevalence of Toxocara Canis In Asthmatic Children and its Relation to the Severity of Diseases Open
In this study, we found a significantly positive serology of T. canis in asthmatic children especially in more severe disease. To verify the etiologic role of Toxocara in asthma, more advanced studies are needed.
View article: Prevalence and Risk Factors of Allergic Rhinitis in Primary School Students of Isfahan, Iran
Prevalence and Risk Factors of Allergic Rhinitis in Primary School Students of Isfahan, Iran Open
Background: Allergic rhinitis (AR) is one of the most common chronic diseases of childhood. Different studies have indicated an increasing prevalence of AR worldwide. The most common complaints of the patients are itching, tearing eyes, an…
View article: Comparison of Interleukin-33 Serum Levels in Asthmatic Patients with a Control Group and Relation with the Severity of the Disease
Comparison of Interleukin-33 Serum Levels in Asthmatic Patients with a Control Group and Relation with the Severity of the Disease Open
Background: The relation between interleukin-33 (IL-33) and asthma is not precisely known yet. The present study set to compare the serum level of IL-33 in patients with asthma and controls and study the relation with the severity of disea…
View article: Evaluation of Right Ventricular Function by Tissue Doppler Echocardiography in Asthmatic Children
Evaluation of Right Ventricular Function by Tissue Doppler Echocardiography in Asthmatic Children Open
BackgroundAsthma is the most chronic inflammatory disorder of the airways in children and asthmatic patients can experience cardiac dysfunction, pulmonary hypertension and finally cor pulmonale later in life. We aimed to investigate Right …
View article: Bullous Systemic Lupus Erythematosus and Lupus Nephritis in a Young Girl
Bullous Systemic Lupus Erythematosus and Lupus Nephritis in a Young Girl Open
Bullous systemic lupus erythematosus (BSLE) is an autoimmune blistering disease occurring in patients with systemic lupus erythematosus (SLE). It is a rare disease, especially in children. A 14-year-old girl initially presented with fatigu…