Results 51 to 60 of about 12,851 (245)

X-Linked Agammaglobulinemia and COVID-19: Two Case Reports and Review of Literature.

Pediatric Allergy, Immunology, and Pulmonology, 2020
Introduction: The Centers for Disease Control and Prevention (CDC) has listed primary immunodeficiency disorders as being predisposed to severe coronavirus disease 2019 (COVID-19).
F. M. Devassikutty, Abhinav R Jain, Athulya Edavazhippurath, Michael Chittettu Joseph, Mohammed Manekkat Thekke Peedikayil, V. Scaria, P. Sandhya, G. Govindaraj   +7 more
semanticscholar   +1 more source

Identification of a novel BTK variant in a Chinese family with X-linked agammaglobulinemia [PDF]

Jichu yixue yu linchuang, 2021
Objective To identify the pathogenic variant in a Chinese family with X-linked agammaglobulinemia (XLA). Methods A trio family with suspected X-linked agammaglobulinemia was recruited.
ZHANG Han, SUN Yang, WANG Rong-rong, ZHANG Wen, ZHANG Xue
doaj  

Understanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study

Biomédica: revista del Instituto Nacional de Salud
Introduction. Immunodeficiencies are disturbances in the immune system that can affect cell function, quantity, or both. They can be either primary, associated with genetic defects, or secondary, linked to external factors such as hemato-oncological ...
Ana Lucía Guzmán, Isabella Villamil, Sofía Martínez-Betancur, Oriana Arias-Valderrama, Jacobo Triviño-Arias, Jessica Largo, Viviana Lotero, Alexis Franco, Ximena Castro, Pamela Rodríguez, Luz Angela Urcuqui, Diego Medina, Manuela Olaya   +12 more
doaj   +1 more source

Molecular diagnostics of primary immunodeficiencies in Sverdlovsk region

Медицинская иммунология, 2021
The article presents the results of the work performed by the laboratory of molecular diagnostics at the Medical Center “Health Care of Mother and Child” for the diagnosis of primary immunodeficiency in Sverdlovsk region over 5 years.
S. S. Deryabina, O. V. Lagutina, I. A. Tuzankina, E. V. Vlasova, M. A. Bolkov   +4 more
doaj  

X-linked agammaglobulinemia

Clinical Immunology and Immunopathology, 1991
X-linked agammaglobulinemia (XLA) patients manifest a very low production of immunoglobulins (Ig) of all classes and plasma cells are virtually absent. The XLA gene plays a crucial role in the transition of pre-B cells to later B cell stages, as hardly any slg-positive B lymphocytes can be detected.
R.K.B. Schuurman, M. De Weers, F.W. Alt, R.W. Hendriks, E. Timmers   +4 more
openaire   +3 more sources

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia

Frontiers in Immunology, 2020
Background: X-linked agammaglobulinemia (XLA) is caused by a mutation of the Bruton's tyrosine kinase (BTK) gene and is the most common genetic mutation in patients with congenital agammaglobulinemia.
Y. Yeh, M. Hsieh, Wen-I. Lee, Jing-Long Huang, Li-Chen Chen, K. Yeh, L. Ou, T. Yao, Chao-Yi Wu, Syh-Jae Lin   +9 more
semanticscholar   +1 more source

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

Frontiers in Immunology, 2020
X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and ...
Jacques G. Rivière, C. Franco-Jarava, M. Martínez-Gallo, Aina Aguiló-Cucurull, L. Blasco-Pérez, Ida Paramonov, M. Antolín, A. Martín-Nalda, P. Soler-Palacín, R. Colobran   +9 more
semanticscholar   +1 more source

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, Rada Miskovic, Jelena Ljubicic, Jelena Ljubicic, Branka Bonaci-Nikolic, Branka Bonaci-Nikolic, Ana Petkovic, Vladana Markovic, Vladana Markovic, Ivan Rankovic, Jelena Djordjevic, Jelena Djordjevic, Ana Stankovic, Kristel Klaassen, Sonja Pavlovic, Maja Stojanovic, Maja Stojanovic   +16 more
doaj   +1 more source

Oral management of a patient with down syndrome and agammaglobulinemia: a case report

BMC Oral Health, 2020
Background Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders.
Yasuka Kusumoto, Kohsuke Imai, Yoshio Ohyama, Haruhisa Fukayama, Osamu Shinozuka   +4 more
doaj   +1 more source

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Molecular Genetics & Genomic Medicine, 2020
We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in ...
Sheri A. Poskanzer, Jenny M Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, I. Chang, H. Ochs, T. Torgerson, S. Hahn   +10 more
semanticscholar   +1 more source