Immunology and Genetics Journal

ارسال های اخیر

  • Normal Expression of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) in LPS-responsive and beige-like anchor protein (LRBA) Patient 

    Salami, Fereshte؛ Moeini Shad, Tannaz (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 ...

  • Case Report: MALT1 Mutation in A Patient with Severe Combined Immunodeficiency 

    Shirmast, Paniz؛ Padidar, Kimiya؛ Moeini shad, Tannaz (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 ...

  • First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus infection 

    Momen, Tooba؛ Alborzi, Abdolvahab؛ Eslamian, Mohammad Hossein؛ Casanova, Jean-Laurent؛ picard, Capucine (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 ...

  • NFKB2 mutation in a patient with lymphopenia and extreme cold sensitivity (a case report) 

    rezaei, arezou؛ shirmast, paniz؛ Eslamian, Mohammad Hossein (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 ...

  • Chronic granulomatous disease (CGD): Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management 

    Fayyaz, Farimah؛ Khashayar, Kiavash؛ Nirouei, Matineh؛ Tavakol, Zahra؛ Askarimoghaddam, Forough؛ Tavakol, Marzieh (Research Center For Immunodeficiencies, 2020-09-01)
    Chronic granulomatous disease (CGD) is a relatively rare inborn error of immune system caused by defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex which leads to impaired production ...

  • Activated PI3K-Delta Syndrome: Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management 

    Aghamohamadi, nazanin؛ Zarezadeh mehrabadi, Ali (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) ...

  • Comparison of the Familial and Sporadic Forms of Hyper IgM Syndrome in the Iranian Patients 

    Pashangzadeh, Salar؛ Mehdizadeh, Kasra (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 ...

  • Bronchiectasis in Patients with the Common Variable Immunodeficiency (CVID) 

    Sanaei, Mohammad Javad (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 ...

  • Gastrointestinal Manifestations in Patients with Common Variable Immunodeficiency 

    Mohammad Rida Al-Hussieni, Kawthar Jasim؛ Rasouli, Seyed Erfan؛ Azizi, Gholamreza؛ Mosavian, Mehdi؛ Matani, Rahman؛ Porrostami, Kumars؛ Qorbani, Mostafa؛ Tavakol, Marzieh (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 ...

  • Autoimmunity in Patients with Hyper IgM Syndrome 

    Delavari, Samaneh؛ Moeini Shad, Tannaz؛ Pashangzadeh, Salar (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 ...

  • Prevalent Autoimmunities in Patients with Selective IgA Deficiency 

    pashangzadeh, salar؛ sohani, mahsa (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 ...

  • Why should TREC and KREC quantification assay be concerned to screen of newborns in developing countries? 

    Ghasemi, Amir (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 ...

  • Precision Medicine as Treatment for Primary Immunodeficiency and Immune Dysregulation 

    Hoyos-Bachiloglu, Rodrigo؛ Platt, Craig (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 ...

  • Misclassification of Ataxia Telangiectasia with Hyper IgM immune profile 

    Razaghian, Anahita؛ Ziaee, Vahid؛ Momen, Tooba؛ Shariat, Mansoureh (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 ...

  • Gastrointestinal Manifestations in Patients with Agammaglobulinemia 

    Jasim Mohammad Rida Al-Hussieni, Kawthar؛ Rasouli, Erfan؛ Azizi, Gholamreza؛ Mosavian, Mehdi؛ Matani, Rahman؛ Tavakol, Marzieh (Research Center For Immunodeficiencies, 2019-09-01)
    Background: The most common symptoms of agammaglobulinemia are recurrent respiratory and gastrointestinal problems. The purpose of this study was to define the prevalence and type of gastrointestinal (GI) manifestations ...

  • Gastrointestinal manifestations of Iranian patients with LRBA deficiency 

    Tafaroji, Javad؛ Salami, Fereshteh؛ Mahdaviani, Seyed Alireza؛ Shirkani, Afshin؛ Chavoshzadeh, Zahra (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 ...

  • Efficacy of Ganciclovir on CMV Retinitis Complication of Common Variable Immunodeficiency 

    Khalili, Abbas (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 ...

  • Clinical Outcomes of a Cohort of Patients with CD40L deficiency 

    Razavi Khorasani, Niloofar؛ Fekrvand, Saba؛ Dooghaie Moghadam, Arash؛ Moazzami, Bobak (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 ...

  • Evaluating Autoimmunity in Patients with Agammaglobulinemia 

    shirmast, paniz؛ Jasim Mohammad Rida Al-Hussieni, Kawthar (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 ...

  • A Review on Hyper-IgE Syndromes: Clinical Manifestations, Diagnosis and Therapeutic Approaches 

    Tavakol, Marzieh؛ Sharafian, Samin؛ Salari, Fereshteh؛ Shokri, Sima (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 ...

View more