Global systematic review of primary immunodeficiency registries
Introduction During the last 4 decades, registration of patients with primary
immunodeficiencies (PID) has played an essential role in different aspects of these diseases …
immunodeficiencies (PID) has played an essential role in different aspects of these diseases …
The link between rheumatic disorders and inborn errors of immunity
G Sogkas, T Witte - EBioMedicine, 2023 - thelancet.com
Inborn errors of immunity (IEIs) are immunological disorders characterized by variable
susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of …
susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of …
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
J Thalhammer, G Kindle, A Nieters, S Rusch… - Journal of Allergy and …, 2021 - Elsevier
Background Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a
challenge. A better description of the initial presenting manifestations should improve …
challenge. A better description of the initial presenting manifestations should improve …
[图书][B] Arzneiverordnungs-Report 2023
WD Ludwig, B Mühlbauer, R Seifert - 2023 - Springer
Arzneiverordnungs-Report 2023 Arznei verordnungsReport 2023 Wolf-Dieter Ludwig· Bernd
Mühlbauer Roland Seifert Hrsg. Page 2 Arzneiverordnungs-Report 2023 Page 3 Wolf-Dieter Ludwig …
Mühlbauer Roland Seifert Hrsg. Page 2 Arzneiverordnungs-Report 2023 Page 3 Wolf-Dieter Ludwig …
[HTML][HTML] Neonatal screening for congenital metabolic and endocrine disorders: Results from Germany for the years 2006–2018
A Lüders, O Blankenstein, I Brockow… - Deutsches Ärzteblatt …, 2021 - ncbi.nlm.nih.gov
Background The purpose of neonatal screening is the early detection of congenital
metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long …
metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long …
Rubella virus infected macrophages and neutrophils define patterns of granulomatous inflammation in inborn and acquired errors of immunity
L Perelygina, R Faisthalab, E Abernathy… - Frontiers in …, 2021 - frontiersin.org
Rubella virus (RuV) has recently been found in association with granulomatous
inflammation of the skin and several internal organs in patients with inborn errors of …
inflammation of the skin and several internal organs in patients with inborn errors of …
There is no gene for CVID—novel monogenetic causes for primary antibody deficiency
NJ Ramirez, S Posadas-Cantera… - Current Opinion in …, 2021 - Elsevier
'There is no gene for fate'(citation from the movie 'GATTACA')—and there is no gene for
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …
[HTML][HTML] Health-related quality of life in primary immunodeficiencies: impact of delayed diagnosis and treatment burden
Accurate and timely diagnosis of primary immunodeficiencies (PID) is an ongoing effort.
Individuals with PID can be severely impacted by their disease and many experience …
Individuals with PID can be severely impacted by their disease and many experience …
Activated PI3Kδ syndrome–reviewing challenges in diagnosis and treatment
S Vanselow, V Wahn, C Schuetz - Frontiers in Immunology, 2023 - frontiersin.org
Activated PI3Kδ syndrome (APDS) is a rare inborn error of immunity (IEI) characterized
primarily by frequent infections, lymphoproliferation and autoimmunity. Since its initial …
primarily by frequent infections, lymphoproliferation and autoimmunity. Since its initial …
Primary immunodeficiencies in Russia: Data from the national registry
AA Mukhina, NB Kuzmenko, YA Rodina… - Frontiers in …, 2020 - frontiersin.org
Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a
multitude of clinical symptoms. Characterization of epidemiological and clinical data via …
multitude of clinical symptoms. Characterization of epidemiological and clinical data via …