Severe combined immunodeficiency—an update

E Cirillo, G Giardino, V Gallo… - Annals of the New …, 2015 - Wiley Online Library
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders
responsible for severe dysfunctions of the immune system. These diseases are life …

Current and future therapeutic approaches for thymic stromal cell defects

AY Kreins, P Bonfanti, EG Davies - Frontiers in Immunology, 2021 - frontiersin.org
Inborn errors of thymic stromal cell development and function lead to impaired T-cell
development resulting in a susceptibility to opportunistic infections and autoimmunity. In …

Osteoblasts are “educated” by crosstalk with metastatic breast cancer cells in the bone tumor microenvironment

AD Kolb, AB Shupp, D Mukhopadhyay, FC Marini… - Breast Cancer …, 2019 - Springer
Introduction In a cancer-free environment in the adult, the skeleton continuously undergoes
remodeling. Bone-resorbing osteoclasts excavate erosion cavities, and bone-depositing …

Congenital athymia: genetic etiologies, clinical manifestations, diagnosis, and treatment

C Collins, E Sharpe, A Silber, S Kulke… - Journal of Clinical …, 2021 - Springer
Congenital athymia is an ultra-rare disease characterized by the absence of a functioning
thymus. It is associated with several genetic and syndromic disorders including FOXN1 …

Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis

M Bosticardo, Y Yamazaki, J Cowan, G Giardino… - The American Journal of …, 2019 - cell.com
FOXN1 is the master regulatory gene of thymic epithelium development. FOXN1 deficiency
leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe …

Human thymus in health and disease: Recent advances in diagnosis and biology

M Bosticardo, LD Notarangelo - Seminars in immunology, 2023 - Elsevier
The thymus is the crucial tissue where thymocytes develop from hematopoietic precursors
that originate from the bone marrow and differentiate to generate a repertoire of mature T …

Inborn errors of the immune system associated with atopy

RW Nelson, RS Geha, DR McDonald - Frontiers in immunology, 2022 - frontiersin.org
Atopic disorders, including atopic dermatitis, food and environmental allergies, and asthma,
are increasingly prevalent diseases. Atopic disorders are often associated with eosinophilia …

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

Q Du, LK Huynh, F Coskun, E Molina… - The Journal of …, 2019 - Am Soc Clin Investig
We report on 2 patients with compound heterozygous mutations in forkhead box N1
(FOXN1), a transcription factor essential for thymic epithelial cell (TEC) differentiation. TECs …

T-cell immunodeficiencies with congenital alterations of thymic development: genes implicated and differential immunological and clinical features

G Giardino, C Borzacchiello, M De Luca… - Frontiers in …, 2020 - frontiersin.org
Combined Immunodeficiencies (CID) are rare congenital disorders characterized by
defective T-cell development that may be associated with B-and NK-cell deficiency. They are …

Inborn errors of thymic stromal cell development and function

AY Kreins, S Maio, F Dhalla - Seminars in Immunopathology, 2021 - Springer
As the primary site for T cell development, the thymus is responsible for the production and
selection of a functional, yet self-tolerant T cell repertoire. This critically depends on thymic …