Common variable immunodeficiency, cross currents, and prevailing winds

N Romberg, C Le Coz - Immunological Reviews, 2024 - Wiley Online Library
Common variable immunodeficiency (CVID) is a heterogenous disease category created to
distinguish late‐onset antibody deficiencies from early‐onset diseases like …

Diagnostic strategies and clinical management of lipodystrophy

MC Foss-Freitas, B Akinci, Y Luo… - Expert review of …, 2020 - Taylor & Francis
Introduction: Lipodystrophy is a heterogeneous group of rare diseases characterized by
various degrees of fat loss which leads to serious morbidity due to metabolic abnormalities …

[PDF][PDF] Current diagnosis, treatment and clinical challenges in the management of lipodystrophy syndromes in children and young people

S Özen, B Akıncı, EA Oral - Journal of Clinical Research in …, 2020 - jag.journalagent.com
Lipodystrophy is a heterogeneous group of disorders characterized by lack of body fat in
characteristic patterns, which can be genetic or acquired. Lipodystrophy is associated with …

Common variable immunodeficiency–associated endotoxemia promotes early commitment to the T follicular lineage

C Le Coz, B Bengsch, C Khanna, M Trofa… - Journal of Allergy and …, 2019 - Elsevier
Background Although chiefly a B-lymphocyte disorder, several research groups have
identified common variable immunodeficiency (CVID) subjects with numeric and/or …

ILC3: a case of conflicted identity

I Koprivica, S Stanisavljević, D Mićanović… - Frontiers in …, 2023 - frontiersin.org
Innate lymphoid cells type 3 (ILC3s) are the first line sentinels at the mucous tissues, where
they contribute to the homeostatic immune response in a major way. Also, they have been …

Birds of a feather: Common variable immune deficiencies

N Romberg, MG Lawrence - Annals of Allergy, Asthma & Immunology, 2019 - Elsevier
Objective To update the reader on recently proposed common variable immune deficiency
(CVID) diagnostic criteria, newly uncovered CVID pathobiology, freshly identified CVID …

How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with …

RS Abraham - Hematology 2014, the American Society of …, 2020 - ashpublications.org
The identification of genetic disorders associated with dysregulated immunity has upended
the notion that germline pathogenic variants in immune genes universally result in …

Congenital T cell activation impairs transitional to follicular B cell maturation in humans

H Allard-Chamard, K Hillier, ML Ramseier… - Blood …, 2024 - ashpublications.org
CTLA4-deficient patients exhibit profound humoral immune dysfunction, yet the basis for the
B cell defect is not known. We observed a marked reduction in transitional to follicular B cell …

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency

C Brakta, AC Tabet, M Puel, M Pacault… - Journal of Clinical …, 2025 - Springer
Purpose CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for
germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33. 2 …

Helper innate lymphoid cells in human tumors: a double-edged sword?

N Tumino, P Vacca, L Quatrini, E Munari… - Frontiers in …, 2020 - frontiersin.org
Innate lymphoid cells (ILCs) were found to be developmentally related to natural killer (NK)
cells. In humans, they are mostly located in “barrier” tissues where they contribute to innate …