Results 211 to 220 of about 145,125 (343)

Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis. [PDF]

Rev Esp Quimioter
Muñoz-Echeverria L, Sánchez-Cano JG, Losa-García JE.   +2 more
europepmc   +1 more source

Economic Inequalities and Justice: Plato and Rawls [PDF]

, 2018
Santas, Gerasimos
core  

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity

Human Genetics, 2020
Shen-Ying Zhang
semanticscholar   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 more
wiley   +1 more source

Editorial: Methods in primary immunodeficiencies: 2022. [PDF]

Front Immunol
Edwards ESJ.
europepmc   +1 more source

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity

, 2020
Bertrand Boisson
openalex   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges. [PDF]

Front Immunol
Bozkurt S, Ozturk N, Altunbas MY, Can S, Amirov R, Mahmudov R, Colak BC, Karabiber E, Baronio M, Lougaris V, Tessarin G, Bilgic-Eltan S, Ozen A, Baris S, Karakoc-Aydiner E.   +14 more
europepmc   +1 more source

Human inborn errors of immunity underlying superficial or invasive candidiasis

Human Genetics, 2020
A. Puel
semanticscholar   +1 more source