DOCK8 deficiency: insights into pathophysiology, clinical features and management
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …
Prevalence and determinants of consanguineous marriage and its types in India: Evidence from the National Family Health Survey, 2015–2016
The aim of the present study was to estimate the prevalence and examine the determinants
of consanguineous marriage types in India. Data for 456,646 ever-married women aged 15 …
of consanguineous marriage types in India. Data for 456,646 ever-married women aged 15 …
Consanguineous marriage and rare bleeding disorders
H Mansouritorghabeh - Expert Review of Hematology, 2021 - Taylor & Francis
ABSTRACT Introduction: Rare bleeding disorders (RBDs) are a heterogeneous group of
bleeding disorders. Consanguineous marriage is the favorite partnership in many …
bleeding disorders. Consanguineous marriage is the favorite partnership in many …
Anti-IL1 treatment in colchicine-resistant paediatric FMF patients: real life data from the HELIOS registry
Objectives FMF is a prototype of autoinflammatory diseases associated with excess IL1
production. Anti-IL1 treatments are the first-line alternatives in colchicine-resistant/intolerant …
production. Anti-IL1 treatments are the first-line alternatives in colchicine-resistant/intolerant …
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
Aims/hypothesis Current clinical guidelines for childhood-onset monogenic diabetes outside
infancy are mainly focused on identifying and testing for dominantly inherited, predominantly …
infancy are mainly focused on identifying and testing for dominantly inherited, predominantly …
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation
M De Bruyne, L Hoste, DJ Bogaert… - Frontiers in …, 2018 - frontiersin.org
Background: Inherited CARD9 deficiency constitutes a primary immunodeficiency
predisposing uniquely to chronic and invasive fungal infections. Certain mutations are …
predisposing uniquely to chronic and invasive fungal infections. Certain mutations are …
Education and consanguineous marriage
At least one of every five marriages is consanguineous (between couples who are second
cousins or closer) in the Middle East and North Africa, and the rate is higher than 50% in …
cousins or closer) in the Middle East and North Africa, and the rate is higher than 50% in …
Neonatal outcomes of critical congenital heart defects: a Multicenter Epidemiological Study of Turkish neonatal society: neonatal outcomes of CCHD
D Dilli, H Akduman, A Zenciroğlu, M Çetinkaya… - Pediatric …, 2024 - Springer
Critical congenital heart disease (CCHD) is one of the leading causes of neonatal and infant
mortality. We aimed to elucidate the epidemiology, spectrum, and outcome of neonatal …
mortality. We aimed to elucidate the epidemiology, spectrum, and outcome of neonatal …
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 …
Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a
rare autosomal recessive disorder and the second most common form of CAH. Aim To …
rare autosomal recessive disorder and the second most common form of CAH. Aim To …
[PDF][PDF] Genetic variants associated with severe hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE
Objective: High triglyceride (TG) levels are associated with an increased risk for
atherosclerotic cardiovascular disease (ASCVD) and pancreatitis. The objectives for this …
atherosclerotic cardiovascular disease (ASCVD) and pancreatitis. The objectives for this …