Immunology and Genetics Journal

ارسال های اخیر

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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) ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • 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 ...

  • The frequency of Helicobacter pylori infection in patients with primary antibody deficiencies 

    Kiaee, Fatemeh؛ Tavakolinia, Naiimeh؛ Moradi, Leila؛ Delavari, Samaneh؛ Abouhamzeh, Kosar؛ Bayat, Shiva؛ Anvari, Pardis؛ Mahdaviani, Seyed Alireza؛ Nabavi, Mohammad؛ Merat, Shahin؛ Zandieh, Fariborz؛ Parvaneh, Nima؛ Malekzadeh, Reza (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. ...

  • Predominantly Antibody Deficiencies 

    Azizi, Gholamreza؛ Yazdani, Reza (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 ...

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