Results 41 to 50 of about 4,304,560 (276)

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Frontiers in Immunology, 2022
Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large
Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Irene Valenzuela, Irene Valenzuela, Jacques G. Riviere, Jacques G. Riviere, Jacques G. Riviere, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Romina Dieli-Crimi, Romina Dieli-Crimi, Romina Dieli-Crimi, Neus Castells, Neus Castells, Laura Batlle-Masó, Laura Batlle-Masó, Pere Soler-Palacin, Pere Soler-Palacin, Pere Soler-Palacin, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran   +27 more
doaj   +1 more source

Novel Aspects in Immunodeficiencies [PDF]

, 2009
This thesis reports the results I obtained during my PhD course in “Human Reproduction, Development and Growth” (XXII Cycle) from 2006 to 2009. The field of the clinical description, genetic characterization, and immunological investigation of novel ...
Amorosi, Stefania
core   +1 more source

Adaptive Cellular Responses following SARS-CoV-2 Vaccination in Primary Antibody Deficiency Patients

Pathogens
Since the start of the COVID-19 pandemic, in a short span of 3 years, vaccination against SARS-CoV-2 has resulted in the end of the pandemic. Patients with inborn errors of immunity (IEI) are at an increased risk for SARS-CoV-2 infection; however ...
Sudhir Gupta, Houfen Su, Sudhanshu Agrawal, Yesim Demirdag, Michelle Tran, Sastry Gollapudi   +5 more
doaj   +1 more source

Warning signs of primary immunodeficiencies: is there any benefits? [PDF]

, 2021
Primary immunodeficiencies is a group of diseases resulting from a variety of genetic defects. At the moment, more than 300 immunodeficiencies are known, most of which negatively affect the quality and duration of life, leading to deaths in the first ...
I. A. Korsunskiy
core   +1 more source

Gene therapy of primary T cell immunodeficiencies. [PDF]

, 2013
International audienceGene therapy of severe combined immunodeficiencies has been proven to be effective to provide sustained correction of the T cell immunodeficiencies.
Cavazzana-Calvo, Marina, Fischer, Alain, Hacein-Bey-Abina, Salima   +2 more
core   +1 more source

Neurological Manifestations of Primary Immunodeficiencies [PDF]

, 2018
Primary immunodeficiencies (PID) are a heterogeneous group of disorders  with a variable clinical spectrum of manifestations. The central nervous system may be involved in PIDs with symptoms which may present initially or develop at later stages ...
Darougar, Sepideh, Chavoshzadeh, Zahra, Hashemitari, Amir   +2 more
core   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

Patient-centered outcomes with subcutaneous immunoglobulin use for infection control in primary and secondary immunodeficiencies: data of a GEIE Spanish Registry

Frontiers in Immunology
Background and aimSubcutaneous immunoglobulin (SCIg) has emerged as an alternative to intravenous administration for patients with primary (PID) and secondary immunodeficiencies (SID), offering benefits such as fewer systemic adverse reactions and ...
Sandra Martínez Mercader, Victor Garcia-Bustos, Victor Garcia-Bustos, Pedro Moral Moral, Pedro Moral Moral, Carmen Martínez Buenaventura, Elisa Escudero Vergara, María Carmen Montaner Bosch, Héctor Balastegui-Martín, Héctor Balastegui-Martín, Sonia Galindo Maycas, Berta Palací Mur, Marian Escobar Palazón, María Moreno Mulet, Ignacio Campanero Carrasco, Alicia López, Carlos Daniel Hernández Ruiz, Laura Ruiz-López, Rocío Guzmán Guzmán, Rocío Guzmán Guzmán, Marta Dafne Cabañero-Navalon, Marta Dafne Cabañero-Navalon   +21 more
doaj   +1 more source

Inborn errors of immunity at school: How can we do better?IEI at school [PDF]

Journal of Human Immunity
Adolescents with inborn errors of immunity face school challenges across adaptation, understanding, coordination, and socialization. In a multi-informant survey (patients, parents, teachers, and classmates), we found a lack of absenteeism protocols ...
Laura Lopez-Seguer, Sonia Rodriguez-Tello, Miriam Gonzalez-Amores, Andrea Martin-Nalda, Stephany Zelada, Saida Ridao Manonellas, Sonia Galindo-Maycas, Carlota Villar, Jacques G. Riviere, Pere Soler-Palacin   +9 more
doaj   +1 more source

Neutropenia in primary immunodeficiency [PDF]

Current Opinion in Hematology, 2013
Neutropenia is a feature of several primary immunodeficiency diseases (PIDDs). Because of the diverse pathophysiologies of the PIDDs and the rarity of each disorder, data are often lacking, leading to the necessity of empiric treatment. Recent developments in the understanding of neutropenia in several of the PIDDs make a review of the data timely.The ...
openaire   +2 more sources