Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives
Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …
in genes involved in immune host defense and immunoregulation. These conditions are …
Common variable immunodeficiency: more pathways than roads to Rome
XP Peng, A Caballero-Oteyza… - Annual Review of …, 2023 - annualreviews.org
Fifty years have elapsed since the term common variable immunodeficiency (CVID) was
introduced to accommodate the many and varied antibody deficiencies being identified in …
introduced to accommodate the many and varied antibody deficiencies being identified in …
Severe combined immunodeficiencies and related disorders
A Fischer, LD Notarangelo, B Neven… - Nature reviews Disease …, 2015 - nature.com
Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic
diseases that are characterized by an early onset and a profound block in the development …
diseases that are characterized by an early onset and a profound block in the development …
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …
establish a causal relationship between genotype and phenotype? We report that up to 49 of …
Transient mTOR inhibition rescues 4-1BB CAR-Tregs from tonic signal-induced dysfunction
B Lamarthée, A Marchal, S Charbonnier, T Blein… - Nature …, 2021 - nature.com
The use of chimeric antigen receptor (CAR)-engineered regulatory T cells (Tregs) has
emerged as a promising strategy to promote immune tolerance. However, in conventional T …
emerged as a promising strategy to promote immune tolerance. However, in conventional T …
Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity
G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
Primary antibody deficiencies
A Durandy, S Kracker, A Fischer - Nature Reviews Immunology, 2013 - nature.com
Primary antibody deficiencies (PADs) are the most common inherited immunodeficiencies in
humans. The use of novel approaches, such as whole-exome sequencing and mouse …
humans. The use of novel approaches, such as whole-exome sequencing and mouse …
The diagnosis of severe combined immunodeficiency (SCID): the primary immune deficiency treatment consortium (PIDTC) 2022 definitions
Severe combined immunodeficiency (SCID) results from defects in the differentiation of
hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages …
hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages …
Overview of immunodeficiency disorders
N Raje, C Dinakar - Immunology and Allergy Clinics, 2015 - immunology.theclinics.com
In the past, primary immunodeficiency disorders (PIDs) have been described as diseases
caused by 1 or more defects of the immune system, leading to increased susceptibility to …
caused by 1 or more defects of the immune system, leading to increased susceptibility to …
Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment
MG Seidel - Blood, The Journal of the American Society of …, 2014 - ashpublications.org
Autoimmunity and immune dysregulation may lead to cytopenia and represent key features
of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial …
of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial …