Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives

R Castagnoli, OM Delmonte, E Calzoni… - Frontiers in …, 2019 - frontiersin.org
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 …

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 …

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 …

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

JL Casanova, ME Conley, SJ Seligman… - Journal of Experimental …, 2014 - rupress.org
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 …

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 …

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 …

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 …

The diagnosis of severe combined immunodeficiency (SCID): the primary immune deficiency treatment consortium (PIDTC) 2022 definitions

CC Dvorak, E Haddad, J Heimall, E Dunn… - Journal of Allergy and …, 2023 - Elsevier
Severe combined immunodeficiency (SCID) results from defects in the differentiation of
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 …

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 …