Immunology and Genetics Journal
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Case Report: MALT1 Mutation in A Patient with Severe Combined Immunodeficiency
(Research Center For Immunodeficiencies, 2020-09-01)Severe combined immunodeficiency (SCID) is one of the most serious and life-threatening forms of primary immunodeficiency disorders (PID). SCID patients manifest a large clinically heterogeneous group of monogenic disorders ...
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Normal Expression of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) in LPS-responsive and beige-like anchor protein (LRBA) Patient
(Research Center For Immunodeficiencies, 2020-09-01)Bialelic LRBA mutations leads to an Immune dysregulation disorder which name is LRBA deficiency. A wide spectrum of clinical manifestation associated with recurrent infections, enteropathy, hypogammaglobulinemia, and ...
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Comparison of the Familial and Sporadic Forms of Hyper IgM Syndrome in the Iranian Patients
(Research Center For Immunodeficiencies, 2020-09-01)Background/Objectives: Hyper IgM (HIGM) syndrome or immunoglobulin class-switch recombination deficiency (Ig-CSR) is a group of primary immunodeficiencies (PIDs) where B cells are unable to undergo the process of immunoglobulin ...
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First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus infection
(Research Center For Immunodeficiencies, 2019-12-01)NEMO (NF-κB essential modulator) is a regulatory factor involved in signaling pathways of innate and adaptive immune system. Hypomorphic mutation of IKBKG gene on X chromosome leads to X-linked recessive anhidrotic ectodermal ...
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Activated PI3K-Delta Syndrome: Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management
(Research Center For Immunodeficiencies, 2020-09-01)Activated PI3 kinase delta syndrome (APDS) is a newly recognized primary immunodeficiency that was firstly discovered in 2013. APDS can result from gain-of-function mutations in PI3Kδ catalytic p110δ (PIK3CD known as APDS1) ...
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Bronchiectasis in Patients with the Common Variable Immunodeficiency (CVID)
(Research Center For Immunodeficiencies, 2020-09-01)Background/objectives: the common variable immunodeficiency (CVID) is known as the most prevalent symptomatic primary immune deficiency (PID) diseases, which is characterized by lower antibody serum levels as well as several ...
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NFKB2 mutation in a patient with lymphopenia and extreme cold sensitivity (a case report)
(Research Center For Immunodeficiencies, 2019-12-01)NF-κB pathway is a complex protein playing an important role in regulating lymphocyte development, immune responses, inflammation, cell proliferation, and cell death. The NF-kB signaling pathway has been described to be ...
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Precision Medicine as Treatment for Primary Immunodeficiency and Immune Dysregulation
(Research Center For Immunodeficiencies, 2019-12-01)“Precision medicine" is the use of therapy that targets the molecular basis of a patient's disease process. This approach is increasingly well-established in treatment of monogenic disorders of immunity, including primary ...
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Why should TREC and KREC quantification assay be concerned to screen of newborns in developing countries?
(Research Center For Immunodeficiencies, 2019-12-01)Primary immunodeficiencies contain a group of several different diseases. Giving the fact that their clinical outcome ranges from mild to potentially life-threatening, detection of patients with these diseases in the ...
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Misclassification of Ataxia Telangiectasia with Hyper IgM immune profile
(Research Center For Immunodeficiencies, 2019-09-01)Ataxia-telangiectasia is a rare primary immunodeficiency and multisystem DNA repair disorder which is caused by mutation in ataxia telangiectasia mutated (ATM) gene. The ATM protein plays a critical role in sensing DNA ...
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Autoimmunity in Patients with Hyper IgM Syndrome
(Research Center For Immunodeficiencies, 2019-12-01)Introduction: hyper-IgM (HIGM) syndrome is characterized by normal to increased serum IgM and very low or undetectable IgG, IgA, and IgE. HIGM (also known as class-switch recombination (CSR) defects) patients manifest ...
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Prevalent Autoimmunities in Patients with Selective IgA Deficiency
(Research Center For Immunodeficiencies, 2019-09-01)Background and objective: Among primary immunodeficiency (PID), selective immunoglobulin A deficiency (SIgAD) is the most prevalent type. SIgAD patients can be either asymptomatic or symptomatic. Symptomatic patients suffer ...
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Gastrointestinal Manifestations in Patients with Common Variable Immunodeficiency
(Research Center For Immunodeficiencies, 2019-12-01)Background: Common variable immunodeficiency (CVID) is one of the most prevalent symptomatic primary immunodeficiencies (PIDs), which manifest a wide clinical variability such as gastrointestinal (GI) disorder.Patients ...
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Efficacy of Ganciclovir on CMV Retinitis Complication of Common Variable Immunodeficiency
(Research Center For Immunodeficiencies, 2018-12-01)Common variable immunodeficiency (CVID) is a heterogeneous disease with different clinical phenotypes that is characterized by hypogammaglobulinemia, abnormal antibody response, and susceptibility to bacterial infections ...
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Gastrointestinal manifestations of Iranian patients with LRBA deficiency
(Research Center For Immunodeficiencies, 2018-12-01)Abstract Background: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a rare genetic primary immunodeficiency (PID) disease caused by mutation in the LRBA gene. The most important symptoms ...
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Clinical Outcomes of a Cohort of Patients with CD40L deficiency
(Research Center For Immunodeficiencies, 2019-09-01)Background: CD40 ligand (CD40L) deficiency is an X-linked form of hyper Immunoglobulin M syndrome (XHIGM) that is caused by mutations of CD40Lgene. The aim of the present study was to investigate the clinical and molecular ...
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A Review on Hyper-IgE Syndromes: Clinical Manifestations, Diagnosis and Therapeutic Approaches
(Research Center For Immunodeficiencies, 2019-09-01)Hyper IgE syndromes are groups of primary immunodeficiency diseases which present with a series of symptoms including recurrent infections accompanied by elevated serum IgE level and some atopic features. Both autosomal ...
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Evaluating Autoimmunity in Patients with Agammaglobulinemia
(Research Center For Immunodeficiencies, 2019-09-01)Background: Agammaglobulinemia is a primary immunodeficiency disorders (PID) which is identified by increased susceptibility to the bacterial infections, significant low antibodies and isohemagglutins and decreased peripheral ...
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The frequency of Helicobacter pylori infection in patients with primary antibody deficiencies
(Research Center For Immunodeficiencies, 2019-06-01)Introduction: Primary antibody deficiencies (PADs) are the most common inherited immunodeficiencies, which can present wide clinical presentation including susceptibility to bacterial infections and gastric adenocarcinoma. ...
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Predominantly Antibody Deficiencies
(Research Center For Immunodeficiencies, 2018-12-01)Abstract Primary antibody deficiencies (PADs) are frequent primary immunodeficiencies in humans, characterized by hypogammaglobulinemia, defects in production of specific antibodies, and recurrent ...