Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency
Journal of Pediatric Critical Care, 2017 Cytomegalovirus (CMV) retinitis is a marker of severe cellular immunodeficiency. Severe combined immunodeficiency (SCID) must be considered in infants presenting with CMV retinitis in a non-HIV setting.
H S Vinayaka +3 more
doaj +1 more source
HIV-1 reverse transcriptase mutations that confer decreased in vitro susceptibility to anti-RT DNA aptamer RT1t49 confer cross resistance to other anti-RT aptamers but not to standard RT inhibitors [PDF]
, 2005 RNA and DNA aptamers specific for HIV-1 reverse transcriptase (RT) can inhibit reverse transcription in vitro. RNA aptamers have been shown to potently block HIV-1 replication in culture.
Fisher, Timothy S +2 more
core +3 more sources
Pediatrics, 2019 NBS has improved the detection, diagnosis, treatment, and basic understanding of SCID; infants with TCL are also detected, facilitating management. OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in ...
George S. Amatuni +21 more
semanticscholar +1 more source
Journal of Medical Case Reports, 2009 Introduction About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase.
Hellani Ali +2 more
doaj +1 more source
Validation on the First-Tier Fully Automated High-Throughput <i>SMN1</i>, <i>SMN2</i>, TREC, and <i>RPP30</i> Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency. [PDF]
Int J Neonatal ScreenMak CM +9 more
europepmc +2 more sources
Peripartum infections and associated maternal mortality in rural Malawi [PDF]
, 2011 Article approval pendingTo assess associations between maternal mortality and severe morbidity and human immunodeficiency virus (HIV) infection, uptake of antiretroviral therapy, obstetric infections, and nonobstetric infections in a rural Malawian ...
Ahmad +23 more
core +3 more sources
Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia
Immunological Reviews, 2018 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 immunodeficiency (SCID) as a public health measure.
J. Puck
semanticscholar +1 more source
Association Between Chronic Hepatitis C Virus Infection and Myocardial Infarction Among People Living With HIV in the United States. [PDF]
, 2019 Hepatitis C virus (HCV) infection is common among people living with human immunodeficiency virus (PLWH). Extrahepatic manifestations of HCV, including myocardial infarction (MI), are a topic of active research. MI is classified into types, predominantly
Budoff, Matt +18 more
core +1 more source
A Novel Homozygous JAK3 Mutation Leading to T-B+NK– SCID in Two Brazilian Patients
Frontiers in Pediatrics, 2018 We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash.
Lucila A. Barreiros +6 more
doaj +1 more source
Diagnosis of severe combined immunodeficiency [PDF]
Journal of Clinical Pathology, 2001 Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and ...
Gennery AR, Cant AJ
openaire +3 more sources