Results 11 to 20 of about 8,652 (161)

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia [PDF]

Frontiers in Immunology
IntroductionHere, we present the results of a nationwide newborn screening (NBS) program in Russia, covering over 2.3 million newborns and employing TREC and KREC quantification to improve the identification of severe forms of T and/or B cell ...
Andrey Marakhonov, Anna Mukhina, Anna Mukhina, Irina Efimova, Natalia Balinova, Maria Ampleeva, Anastasia Bobreshova, Yulia Rodina, Dmitry Pershin, Viktoriia Zabnenkova, Oxana Ryzhkova, Zhanna Markova, Nadezhda Shilova, Ilya Zhanin, Kirill Savostyanov, Svetlana Matulevich, Fanil Bilalov, Alexander Koroteev, Andrey Donnikov, Dmitry Trofimov, Tatyana Bairova, Gulnara Seitova, Sergei Mordanov, Elena Nikolaeva, Zareta Esmurzieva, Elena Skorobogatova, Lyudmila Olkhova, Larisa Vakhonina, Daria Kostenko, Gleb Bronin, Sergey Zimin, Tatiana Bykova, Dmitry Balashov, Rena Zinchenko, Nikolai Grachev, Sergey Voronin, Anna Shcherbina, Sergey Kutsev   +37 more
doaj   +2 more sources

Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia [PDF]

Frontiers in Immunology
BackgroundPU.1 deficiency, also known as Autosomal Dominant Agammaglobulinemia-10 (AGM10), is a rare primary immunodeficiency caused by mutations in the SPI1 gene, leading to B cell deficiency and hypogammaglobulinemia.
Qi Peng, Qi Peng, Qi Peng, Ming Deng, Xiaomei Zeng, Xiaomei Zeng, Xiaomei Zeng, Qingqiu Cheng, Qingqiu Cheng, Qingqiu Cheng, Mingyu Xie, Siping Li, Siping Li, Siping Li, Xiaomei Lu, Xiaomei Lu, Xiaomei Lu   +16 more
doaj   +2 more sources

Purulent meningitis in X-linked agammaglobulinemia: one case report [PDF]

Frontiers in Immunology
X-linked agammaglobulinemia (XLA) is characterized by a triad of primary immunodeficiency, profound hypogammaglobulinemia due to absent antibody production, and a consequent predisposition to severe and recurrent bacterial infections.
Anyi Ba, Lijiang Wang, Ruifang Ren, Ting C. Zhao, Wenyu Di, Jinggui Song   +5 more
doaj   +2 more sources

Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia

Frontiers in Immunology
IntroductionPU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene.
Rada Miskovic, Jelena Ljubicic, Branka Bonaci-Nikolic   +2 more
exaly   +3 more sources

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

World Allergy Organization Journal, 2019
Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications.
Zeinab A El-Sayed, Juan CARLOS ALDAVE, Waleed Al-Herz   +2 more
exaly   +3 more sources

The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study [PDF]

BMC Immunology
Background Inborn errors of immunity (IEIs) can exhibit variant clinical manifestations beyond the classic presentation of recurrent infections. Allergic diseases represent an important subset that can arise as the primary feature or coexist with IEIs ...
Hossein Esmaeilzadeh, Maryam Esmaeilbeig, Aida Askarisarvestani, Soheila Alyasin, Seyed Hesamodin Nabavizadeh   +4 more
doaj   +2 more sources

Autosomal Recessive Agammaglobulinemia in Juvenile Idiopathic Arthritis: A Case Report [PDF]

Reviews in Clinical Medicine, 2020
The B lymphocyte developmental blocks agammaglobulinemia, leading to peripheral B cell depletion and plasma immunoglobulin reduction. Agammaglobulinemia is a rare yet severe disease since it is presented with recurrent sinopulmonary and skin, central ...
Azadeh Zare Feizabadi, Abdolreza Malek, Hamid Ahanchian   +2 more
doaj   +2 more sources

Clinical Case of Agammaglobulinemia Late Diagnosis in Preschool Child

Педиатрическая фармакология, 2022
Background. Agammaglobulinemia is a disease from the group of primary immune deficiencies with impaired antibodies production characterized by significant decrease or complete absence of B-cells.
Elena S. Kolevatova, Alla Yu. Shutkova, Elena V. Tush, Olga V. Khaletskaya   +3 more
doaj   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

Case Reports in Immunology, 2022
Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections.
Ezgi Topyildiz, Neslihan Edeer Karaca, Ayse Aygun, Ayca Aykut, Asude Durmaz, Guzide Aksu, Necil Kutukculer   +6 more
doaj   +1 more source