[HTML][HTML] Inflammatory bowel disease: a review of pre-clinical murine models of human disease

B Katsandegwaza, W Horsnell, K Smith - International Journal of …, 2022 - mdpi.com
Crohn's disease (CD) and ulcerative colitis (UC) are both highly inflammatory diseases of
the gastrointestinal tract, collectively known as inflammatory bowel disease (IBD). Although …

Current status of newborn screening worldwide: 2015

BL Therrell, CD Padilla, JG Loeber, I Kneisser… - Seminars in …, 2015 - Elsevier
Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

[HTML][HTML] Lentiviral gene therapy for artemis-deficient SCID

MJ Cowan, J Yu, J Facchino… - … England Journal of …, 2022 - Mass Medical Soc
Background The DNA-repair enzyme Artemis is essential for rearrangement of T-and B-cell
receptors. Mutations in DCLRE1C, which encodes Artemis, cause Artemis-deficient severe …

The full spectrum of human naive T cells

T van den Broek, JAM Borghans… - Nature Reviews …, 2018 - nature.com
Naive T cells have long been regarded as a developmentally synchronized and fairly
homogeneous and quiescent cell population, the size of which depends on age, thymic …

Immune reconstitution and survival of 100 SCID patients post–hematopoietic cell transplant: a PIDTC natural history study

J Heimall, BR Logan, MJ Cowan… - Blood, The Journal …, 2017 - ashpublications.org
Abstract The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling
children with severe combined immunodeficiency (SCID) to a prospective natural history …

Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders

A Stray-Pedersen, HS Sorte, P Samarakoon… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017

GS Amatuni, RJ Currier, JA Church, T Bishop… - …, 2019 - publications.aap.org
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was
instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had …

Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome

F Candotti - Journal of clinical immunology, 2018 - Springer
Abstract The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder originally described
by Dr. Alfred Wiskott in 1937 and Dr. Robert Aldrich in 1954 as a familial disease …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

JM Puck - Immunological reviews, 2019 - Wiley Online Library
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots
(DBS) made possible universal newborn screening (NBS) for severe combined …