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Asghar Aghamohammadi - One of the best experts on this subject based on the ideXlab platform.

  • Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
    Endocrine‚ Metabolic & Immune Disorders-Drug Targets, 2020
    Co-Authors: Salar Pashangzadeh, Reza Yazdani, Gholamreza Azizi, Farzad Nazari, Hassan Abolhassani, Asghar Aghamohammadi
    Abstract:

    : Agammaglobulinemia is a type of primary antibody deficiencies, characterized by severe reduction in serum level of all types of immunoglobulins level and absence of B cells in the peripheral blood. X-linked and various autosomal recessive/dominant mutations have been identified underlying the pathogenesis of this disorder. Affected patients present a broad range of clinical manifestations, including respiratory infections, gastrointestinal complications, Enterovirus infections, autoimmunity, and malignancies. This disease can be controlled via different therapeutic strategies. In this review, we describe different aspects of Agammaglobulinemia such as epidemiology, pathogenesis, clinical phenotype, diagnosis, management, and prognosis of congenital Agammaglobulinemia.

  • Autosomal Recessive Agammaglobulinemia: A Novel Non-sense Mutation in CD79a
    Journal of Clinical Immunology, 2014
    Co-Authors: Abbas Khalili, Alessandro Plebani, Hassan Abolhassani, Vassilios Lougaris, Nima Rezaei, Massimiliano Vitali, Babak Mirminachi, Asghar Aghamohammadi
    Abstract:

    This study describes the fifth case worldwide of autosomal recessive Agammaglobulinemia due to a novel non-sense mutation in CD79a gene with a severe unusual onset due to an invasive central nervous system infection.

  • Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked Agammaglobulinemia
    International Archives of Allergy and Immunology, 2006
    Co-Authors: Asghar Aghamohammadi, Maurilia Fiorini, Francesca Goffi, Nima Parvaneh, Ali Akbar Amirzargar, Mehdi Yeganeh, Mostafa Moin, Hirokazu Kanegane, Shahram Teimourian, Zahra Pourpak
    Abstract:

    Background: X-linked Agammaglobulinemia (XLA) is a hereditary immunodeficiency characterized by an early onset of recurrent bacterial infections, a profound deficiency of all immuno

  • efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with Agammaglobulinemia
    Fems Immunology and Medical Microbiology, 2004
    Co-Authors: Asghar Aghamohammadi, Mostafa Moin, Zahra Pourpak, A Farhoudi, Nima Rezaei, Masoud Movahedi, Mohammad Gharagozlou, Mohammad Nabavi, Amin Shahrokhi
    Abstract:

    Abstract Agammaglobulinemia is characterized by failure of B-cell differentiation (hypogammaglobulinemia) and increased susceptibility to bacterial infections. The present study was set up in order to evaluate the effectiveness of intravenous immunoglobulin (IVIG) treatment on the incidence of pneumonia in patients with Agammaglobulinemia. We carried out chart reviews of 23 patients with Agammaglobulinemia (mean age 11.5±5.4 years), who had been observed in a 22-year period (July 1981–January 2003) in Iran’s referral center for primary immunodeficiency disorders. Nineteen of these 23 (82.5%) had been infected with pneumonia at least once before receiving the immunoglobulin treatment and 11 of them had experienced multiple episodes. During treatment with γ-globulin – over a mean period of 6.8±4.1 years (range: 0.8–15.3 years) – the incidence of pneumonia requiring treatment or hospitalization decreased from 0.82 to 0.12 per patient per year (P=0.006). During IVIG replacement, hospitalization due to pneumonia decreased from 0.58 to 0.05 per patient per year (P=0.08) and the immunoglobulin G level (mean±S.D.) changed from 66.2±63.9 (range: 0–210 mg dl−1) to 552.4±199.1 (range: 136–942 mg dl−1) (P

Nima Rezaei - One of the best experts on this subject based on the ideXlab platform.

  • Autosomal Recessive Agammaglobulinemia: A Novel Non-sense Mutation in CD79a
    Journal of Clinical Immunology, 2014
    Co-Authors: Abbas Khalili, Alessandro Plebani, Hassan Abolhassani, Vassilios Lougaris, Nima Rezaei, Massimiliano Vitali, Babak Mirminachi, Asghar Aghamohammadi
    Abstract:

    This study describes the fifth case worldwide of autosomal recessive Agammaglobulinemia due to a novel non-sense mutation in CD79a gene with a severe unusual onset due to an invasive central nervous system infection.

  • efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with Agammaglobulinemia
    Fems Immunology and Medical Microbiology, 2004
    Co-Authors: Asghar Aghamohammadi, Mostafa Moin, Zahra Pourpak, A Farhoudi, Nima Rezaei, Masoud Movahedi, Mohammad Gharagozlou, Mohammad Nabavi, Amin Shahrokhi
    Abstract:

    Abstract Agammaglobulinemia is characterized by failure of B-cell differentiation (hypogammaglobulinemia) and increased susceptibility to bacterial infections. The present study was set up in order to evaluate the effectiveness of intravenous immunoglobulin (IVIG) treatment on the incidence of pneumonia in patients with Agammaglobulinemia. We carried out chart reviews of 23 patients with Agammaglobulinemia (mean age 11.5±5.4 years), who had been observed in a 22-year period (July 1981–January 2003) in Iran’s referral center for primary immunodeficiency disorders. Nineteen of these 23 (82.5%) had been infected with pneumonia at least once before receiving the immunoglobulin treatment and 11 of them had experienced multiple episodes. During treatment with γ-globulin – over a mean period of 6.8±4.1 years (range: 0.8–15.3 years) – the incidence of pneumonia requiring treatment or hospitalization decreased from 0.82 to 0.12 per patient per year (P=0.006). During IVIG replacement, hospitalization due to pneumonia decreased from 0.58 to 0.05 per patient per year (P=0.08) and the immunoglobulin G level (mean±S.D.) changed from 66.2±63.9 (range: 0–210 mg dl−1) to 552.4±199.1 (range: 136–942 mg dl−1) (P

Vassilios Lougaris - One of the best experts on this subject based on the ideXlab platform.

  • Chapter 13 – Agammaglobulinemia
    Stiehm's Immune Deficiencies, 2020
    Co-Authors: Alessandro Plebani, Vassilios Lougaris
    Abstract:

    Agammaglobulinemia is a rare form of primary immune deficiency characterized by absence of circulating B cells and low serum levels of all immunoglobulin classes, in the presence of normal T cell counts and function. Affected patients are particularly susceptible to infections, frequently severe ones. The majority (85%) of affected patients are males (X-linked form), while a small percentage (15%) of patients of both sexes present with an autosomal recessive trait of inheritance. In this latter case, not all patients have a definite genetic diagnosis as yet. Although current therapeutic protocols have prolonged the lifespan of patients with Agammaglobulinemia, their prognosis is affected by the occurrence of long-term complications – mainly the development of chronic lung disease (CLD).

  • a possible role for b cells in covid 19 lesson from patients with Agammaglobulinemia
    The Journal of Allergy and Clinical Immunology, 2020
    Co-Authors: Isabella Quinti, Vassilios Lougaris, Cinzia Milito, Francesco Cinetto, Antonio Pecoraro, Ivano Mezzaroma, Claudio Maria Mastroianni, Ombretta Turriziani, Maria Pia Bondioni, Matteo Filippini
    Abstract:

    Summary COVID-19 had a mild clinical course in patients with Agammaglobulinemia lacking B lymphocytes, whereas it developed aggressively in Common Variable Immune Deficiency. Our data offer mechanisms for possible therapeutic targets.

  • Autosomal Recessive Agammaglobulinemia: A Novel Non-sense Mutation in CD79a
    Journal of Clinical Immunology, 2014
    Co-Authors: Abbas Khalili, Alessandro Plebani, Hassan Abolhassani, Vassilios Lougaris, Nima Rezaei, Massimiliano Vitali, Babak Mirminachi, Asghar Aghamohammadi
    Abstract:

    This study describes the fifth case worldwide of autosomal recessive Agammaglobulinemia due to a novel non-sense mutation in CD79a gene with a severe unusual onset due to an invasive central nervous system infection.

  • mutations of the igβ gene cause Agammaglobulinemia in man
    Journal of Experimental Medicine, 2007
    Co-Authors: Simona Ferrari, Vassilios Lougaris, Stefano Caraffi, Roberta Zuntini, Jianying Yang, Annarosa Soresina, A Meini, Giantonio Cazzola, Cesare Rossi, Michael Reth
    Abstract:

    Agammaglobulinemia is a rare primary immunodeficiency characterized by an early block of B cell development in the bone marrow, resulting in the absence of peripheral B cells and low/absent immunoglobulin serum levels. So far, mutations in Btk, μ heavy chain, surrogate light chain, Igα, and B cell linker have been found in 85–90% of patients with Agammaglobulinemia. We report on the first patient with Agammaglobulinemia caused by a homozygous nonsense mutation in Igβ, which is a transmembrane protein that associates with Igα as part of the preBCR complex. Transfection experiments using Drosophila melanogaster S2 Schneider cells showed that the mutant Igβ is no longer able to associate with Igα, and that assembly of the BCR complex on the cell surface is abrogated. The essential role of Igβ for human B cell development was further demonstrated by immunofluorescence analysis of the patient's bone marrow, which showed a complete block of B cell development at the pro-B to preB transition. These results indicate that mutations in Igβ can cause Agammaglobulinemia in man.

C I E Smith - One of the best experts on this subject based on the ideXlab platform.

  • Bruton tyrosine kinase (Btk) in X-linked Agammaglobulinemia (XLA)
    Frontiers in Bioscience, 2000
    Co-Authors: Mauno Vihinen, Pt Mattsson, C I E Smith
    Abstract:

    X-linked Agammaglobulinemia (XLA) is a heritable immunodeficiency disorder that is caused by a differentiation block leading to almost complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's Agammaglobulinemia tyrosine kinase (Btk). Btk along with Tec, Itk, Bmx and Txk belong to a distinct family of protein kinases. These proteins contain five regions; PH, TH, SH3, SH2 and kinase domains. Mutations causing XLA may affect any of these domains. About 380 unique mutations have been identified and are collected in a mutation database, BTKbase. Here, we describe the structure, function, and interactions of the affected signaling molecules in atomic detail.

  • mutations of the human btk gene coding for bruton tyrosine kinase in x linked Agammaglobulinemia
    Human Mutation, 1999
    Co-Authors: Mauno Vihinen, Hans D. Ochs, Mary Ellen Conley, Sauping Kwan, T Lester, Igor B Resnick, Jouni Valiaho, C I E Smith
    Abstract:

    X-linked Agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton Agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK cause the disease, the single most common event being missense mutations. Most mutations lead to truncation of the enzyme. The mutations appear almost uniformly throughout the molecule. About one-third of point mutations affect CpG sites, which usually code for arginine residues. The putative structural implications of all the missense mutations are provided in the database. BTKbase is available at http://www.uta.fi/imt/bioinfo.

  • BTK, the tyrosine kinase affected in X-linked Agammaglobulinemia.
    Frontiers in Bioscience, 1997
    Co-Authors: Mauno Vihinen, Pt Mattsson, C I E Smith
    Abstract:

    : X-linked Agammaglobulinemia (XLA) is a heritable immunodeficiency disorder that is caused by a differentiation block leading to almost complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's Agammaglobulinemia tyrosine kinase (Btk). Btk along with Tec, Itk and Bmx belong to a distinct family of protein kinases. These proteins contain five regions; PH, TH, SH3, SH2 and kinase domains. Mutations causing XLA may affect any of these domains. About 200 unique mutations have been identified and are collected in a mutation database, BTKbase. Here, we describle, the structure, function, and interactions of the affected signaling molecules in atomic detail.

  • Colocalization of X-linked Agammaglobulinemia and X-linked immunodeficiency genes
    Science, 1993
    Co-Authors: J.d. Thomas, Vernell Chapman, Paschalis Sideras, C I E Smith, Igor Vorechovsky, W. E. Paul
    Abstract:

    Mice that bear the X-linked immunodeficiency (xid) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton9s Agammaglobulinemia tyrosine kinase (btk) gene, which is implicated in the human immune deficiency, X-linked Agammaglobulinemia. Mice that carry xid have a missense mutation that alters a highly conserved arginine near the amino-terminus of the btk protein, Btk. Because this region of Btk lies outside any obvious kinase domain, the xid mutation may define another aspect of tyrosine kinase function.

Olivier Hermine - One of the best experts on this subject based on the ideXlab platform.

  • disseminated spiroplasma apis infection in patient with Agammaglobulinemia france
    Emerging Infectious Diseases, 2018
    Co-Authors: Nicolas Etienne, Olivier Hermine, Laurent Bret, Cecile Le Brun, Herve Lecuyer, Josquin Moraly, Fanny Lanternier, Agnes Ferroni, Marc Lecuit
    Abstract:

    : We report a disseminated infection caused by Spiroplasma apis, a honeybee pathogen, in a patient in France who had X-linked Agammaglobulinemia. Identification was challenging because initial bacterial cultures and direct examination by Gram staining were negative. Unexplained sepsis in patients with Agammaglobulinemia warrants specific investigation to identify fastidious bacteria such as Spiroplasma spp.

  • Regional Enteritis Associated with Enterovirus in a Patient with X-Linked Agammaglobulinemia
    The New England Journal of Medicine, 2000
    Co-Authors: Christophe Cellier, Sophie Foray, Olivier Hermine
    Abstract:

    To the Editor: X-linked Agammaglobulinemia is characterized by a profound defect in the production of antibodies of all isotypes; the defect is related to impaired B-lymphocyte differentiation resu...

  • Regional Enteritis Associated with Enterovirus in a Patient with X-Linked Agammaglobulinemia
    The New England Journal of Medicine, 2000
    Co-Authors: Christophe Cellier, Sophie Foray, Olivier Hermine
    Abstract:

    To the Editor: X-linked Agammaglobulinemia is characterized by a profound defect in the production of antibodies of all isotypes; the defect is related to impaired B-lymphocyte differentiation resulting from mutations in the gene for B tyrosine kinase.1 Immunity against viral infections is generally intact in patients with X-linked Agammaglobulinemia, with the exception of an unusual susceptibility to enteroviral infection.1 Chronic intestinal inflammation mimicking Crohn's disease has been described in a few patients with X-linked Agammaglobulinemia.2,3 Its origin, however, is unknown. A 22-year-old man with X-linked Agammaglobulinemia that had been diagnosed at the age of 9 was referred for chronic . . .