Buscar recursos académicos

Background and AimsThe primary focus of neonatal screening is the early detection of asymptomatic infants with a range of serious diseases for which effective treatment is available and for which early diagnosis and inte...

Materias / palabras clave: Psicología; Psicología Clínica

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

BackgroundSevere combined immunodeficiency (SCID) is a life-threatening condition that requires urgent medical attention. Newborn screening (NBS) using the T cell receptor excision circle (TREC) assay facilitates early d...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

IntroductionLow T cell receptor excision circles (TRECs) on newborn screen and severe T cell lymphopenia in a term newborn raise concern for severe combined immunodeficiency (SCID). Genetic polymorphisms in thiopurine me...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) provides the main cellular source of NADPH through the pentose phosphate pathway, supporting antioxidant defenses and metabolic programs required for hematopoietic devel...

Longitudinal profiling of 136 newborns shows thymic output peaks at 3–4 mo, correlating with plasma RANKL, lymphotoxin-α, and the TCRD variant rs2204985. In thymic tissue, RANKL tracks medullary—but not cortical—e...

Materias / palabras clave: MCCRACKEN, GEORGE H; GRUNE & STRATTON; 618.9201 M131a2

Materias / palabras clave: SCHAFFER, ALEXANDER J; W. B. SAUNDERS COMPANY; 618.9201 S328d4

Materias / palabras clave: CRELIN, EDMUND S; YALE UNIVERSITY PRESS; 612.652 C915f

Materias / palabras clave: STERN, LEO; MTP PRESS LIMITED; 618.9201 S839i

Materias / palabras clave: PEARSON EDUCACION

Materias / palabras clave: SINCLAIR, JOHN C; GRUNE & STRATTON; 612.01426 T282t

Materias / palabras clave: MCCLUNG, JEAN; HARVARS UNIVERSITY PRESS; 616.9893 M164e

BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...

BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

Artemis-deficient severe combined immunodeficiency (SCID) is a rare autosomal recessive disorder caused by pathogenic variants in DCLRE1C, which encodes ARTEMIS, a DNA repair endonuclease essential for V(D)J recombinatio...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...

IntroductionAdenosine deaminase–deficient severe combined immunodeficiency (ADA-SCID) is an autosomal recessive disorder comprising ∼15% of SCID cases. Newborn screening (NBS) relies on T cell receptor excision circl...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...

In the last decade, diagnostic detection of severe combined immune deficiency (SCID) has improved with the widespread implementation of universal newborn screening (NBS) for SCID in the United States. Our case identifies...