The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee
SG Tangye, W Al-Herz, A Bousfiha… - Journal of clinical …, 2021 - Springer
The most recent updated classification of inborn errors of immunity/primary
immunodeficiencies, compiled by the International Union of Immunological Societies Expert …
immunodeficiencies, compiled by the International Union of Immunological Societies Expert …
Global systematic review of primary immunodeficiency registries
Introduction During the last 4 decades, registration of patients with primary
immunodeficiencies (PID) has played an essential role in different aspects of these diseases …
immunodeficiencies (PID) has played an essential role in different aspects of these diseases …
Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee
SG Tangye, W Al-Herz, A Bousfiha… - Journal of clinical …, 2022 - Springer
We report the updated classification of inborn errors of immunity, compiled by the
International Union of Immunological Societies Expert Committee. This report documents the …
International Union of Immunological Societies Expert Committee. This report documents the …
The PTPN2/PTPN1 inhibitor ABBV-CLS-484 unleashes potent anti-tumour immunity
CK Baumgartner, H Ebrahimi-Nik, A Iracheta-Vellve… - Nature, 2023 - nature.com
Immune checkpoint blockade is effective for some patients with cancer, but most are
refractory to current immunotherapies and new approaches are needed to overcome …
refractory to current immunotherapies and new approaches are needed to overcome …
Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …
variants and causative genes for more than half such disorders remain to be discovered …
Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C)
Background Multisystem inflammatory syndrome in children (MIS-C) is a pediatric
complication of severe acute respiratory syndrome coronavirus 2 infection that is …
complication of severe acute respiratory syndrome coronavirus 2 infection that is …
Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1
Background We studied 2 unrelated patients with immune thrombocytopenia and
autoimmune hemolytic anemia in the setting of acute infections. One patient developed …
autoimmune hemolytic anemia in the setting of acute infections. One patient developed …
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
J Hadjadj, CN Castro, M Tusseau… - Nature …, 2020 - nature.com
Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial
autoimmune diseases can reveal pathophysiological mechanisms involved in more …
autoimmune diseases can reveal pathophysiological mechanisms involved in more …
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 …
Next-generation phenoty** integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
A Schmidt, M Danyel, K Grundmann, T Brunet… - Nature …, 2024 - nature.com
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since
expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3 …
expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3 …