Clinical case of primary immunodeficiency: X-linked agammaglobulinemia
Медицинская иммунология, 2020 Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single ...
E. V. Kuvschinova +4 more
doaj +1 more source
Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age. [PDF]
, 2015 BACKGROUND:Hizentra® (IGSC 20%) is a 20% liquid IgG product approved for subcutaneous administration in adults and children 2 years of age and older who have primary immunodeficiency disease (PIDD). There is limited information about the use of IGSC 20 %
Atkinson, Thomas Prescott +10 more
core +2 more sources
Estado nutricional de pacientes pediátricos con deficiencia predominantemente de anticuerpos
Biomédica: revista del Instituto Nacional de SaludIntroducción. La deficiencia predominantemente de anticuerpos es el grupo de errores inmunólogicos innatos más frecuente, sin embargo, hay poca información sobre el estado nutricional de los pacientes afectados. Objetivo.
Lina M. Castaño-Jaramillo +2 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Campylobacter jejuni Pericarditis: A Case Report
Acta Médica Portuguesa, 2022 Campylobacter jejuni is one of the most common causes of enteritis. In rare cases, extraintestinal infection can occur, with a handful of cases of cardiac involvement, of which the pathophysiological mechanism is unclear.
Joao Neves-Maia +3 more
doaj +1 more source
Single cell imaging of Bruton's Tyrosine Kinase using an irreversible inhibitor [PDF]
, 2014 A number of Bruton's tyrosine kinase (BTK) inhibitors are currently in development, yet it has been difficult to visualize BTK expression and pharmacological inhibition in vivo in real time.
Kim, Eunha +4 more
core +1 more source
Allergy, EarlyView.ABSTRACT In the last decades, critical advancements in research technology and knowledge on disease mechanisms steered therapeutic approaches for chronic inflammatory diseases towards unprecedented target specificity. For allergic and chronic lung diseases, biologic drugs pioneered this goal, acquiring on the way—through the clinical use of monoclonal ...
F. Roth‐Walter +20 more
wiley +1 more source
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 +7 more
semanticscholar +1 more source
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily [PDF]
, 2016 Background: The association between aberrant signal processing by protein kinases and human diseases such as cancer was established long time ago.
Brunak, Søren +5 more
core +4 more sources
Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report
Immunity, Inflammation and Disease, 2023 Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan +3 more
doaj +1 more source