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Genome-scale clustered regularly interspaced short palindromic repeats screen identifies nucleotide metabolism as an actionable therapeutic vulnerability in diffuse large B-cell lymphoma.
Haematologica
December 2024
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham.
Diffuse large B-cell lymphoma (DLBCL) is the most common malignancy that develops in patients with ataxia-telangiectasia, a cancer-predisposing inherited syndrome characterized by inactivating germline ATM mutations. ATM is also frequently mutated in sporadic DLBCL. To investigate lymphomagenic mechanisms and lymphoma-specific dependencies underlying defective ATM, we applied RNA sequencing and genome-scale loss-of-function clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 screens to systematically interrogate B-cell lymphomas arising in a novel murine model (Atm-/-nu-/-) with constitutional Atm loss, thymic aplasia but residual T-cell populations.
View Article and Find Full Text PDFParental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
J Clin Immunol
March 2024
Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Article Synopsis
- - Congenital athymia is a rare condition affecting T-lymphocyte levels, requiring thymus transplantation, and is often detected early through newborn screening for severe combined immunodeficiency (SCID).
- - Parents of infants identified with suspected athymia expressed that they were not informed of this diagnosis until weeks after initial screening results, highlighting a gap in timely communication and information access during the diagnostic process.
- - A proposal was made for a roadmap that provides easily understandable, real-time information for parents, aiming to enhance their journey through diagnosis and potentially applicable to other rare diseases, emphasizing the importance of parental involvement and public engagement in healthcare.
Primary and secondary defects of the thymus.
Immunol Rev
March 2024
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
The thymus is the primary site of T-cell development, enabling generation, and selection of a diverse repertoire of T cells that recognize non-self, whilst remaining tolerant to self- antigens. Severe congenital disorders of thymic development (athymia) can be fatal if left untreated due to infections, and thymic tissue implantation is the only cure. While newborn screening for severe combined immune deficiency has allowed improved detection at birth of congenital athymia, thymic disorders acquired later in life are still underrecognized and assessing the quality of thymic function in such conditions remains a challenge.
View Article and Find Full Text PDFA Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
December 2023
Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Lindwurmstrasse 4, 80337, Munich, Germany.
Lymphocyte-specific protein tyrosine kinase (LCK) is an SRC-family kinase critical for initiation and propagation of T-cell antigen receptor (TCR) signaling through phosphorylation of TCR-associated CD3 chains and recruited downstream molecules. Until now, only one case of profound T-cell immune deficiency with complete LCK deficiency [1] caused by a biallelic missense mutation (c.1022T>C, p.
View Article and Find Full Text PDFNon-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.
Pediatr Blood Cancer
March 2024
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Article Synopsis
- CHARGE syndrome, caused by mutations in the CHD7 gene, can lead to severe immunodeficiency and is treated through options like cultured thymus tissue implantation (CTTI) and hematopoietic cell transplantation (HCT).
- A study at Kyushu University analyzed outcomes of four patients post-non-conditioned cord blood transplantation (CBT) and compared them to eight other cases, observing a notable improvement in immune recovery and survival rates.
- Results showed a 100% one-year survival rate for patients receiving non-conditioned HCT, with successful naïve T cell reconstitution, suggesting that this method is an effective temporary solution for newborns awaiting a more definitive immunological treatment.
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