First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0391-9
Abstract: To the Editor Population-based screening of newborns can effectively identify infants with genetic defects of the immune system leading to severe combined immunodeficiency (SCID) [1]. Early diagnosis of SCID prompts intervention before life-threatening infections and… read more here.
Keywords: linked moesin; first case; scid; identified newborn ... See more keywords
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency
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DOI: 10.1007/s10875-019-00615-6
Abstract: To the Editor, Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects… read more here.
Keywords: immunodeficiency; scid; two siblings; combined immunodeficiency ... See more keywords
Immune reconstitution after HSCT in SCID—a cohort of conditioned and unconditioned patients
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DOI: 10.1007/s12026-019-09081-z
Abstract: Allogeneic hematopoietic stem cell transplantation (HSCT) is the effective mean of immune restoration in severe combined immunodefiency (SCID). Usually, HSCT without cytoreductive conditioning is attempted. Nevertheless, conditioning procedures are still preferred in a subset of… read more here.
Keywords: unconditioned patients; hsct; scid; conditioned unconditioned ... See more keywords
Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience
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DOI: 10.1007/s12519-024-00846-7
Abstract: Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. Advances in real-time polymerase chain reaction (PCR) technology have been… read more here.
Keywords: newborn screening; spinal muscular; linked agammaglobulinemia; combined immunodeficiency ... See more keywords
Transplantation Outcomes for Children with Severe Combined Immune Deficiency (SCID) Have Improved over Time: A 36-Year Summary Report By the Primary Immune Deficiency Treatment Consortium (PIDTC)
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DOI: 10.1016/j.bbmt.2019.12.083
Abstract: Background With >36 years of data collected, PIDTC prospective (6901) and retrospective (6902) natural history studies provide an unprecedented opportunity to study hematopoietic cell transplantation (HCT) outcomes for SCID over time. Methods Patients in this… read more here.
Keywords: scid; transplantation outcomes; immune deficiency; time ... See more keywords
Low T-Cell Receptor β ( ) Repertoire Diversity Early Post-Transplant for Severe Combined Immunodeficiency (SCID) Predicts Subsequent Failure of Immune Reconstitution
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DOI: 10.1016/j.bbmt.2019.12.406
Abstract: Introduction Development of a diverse T cell repertoire is associated with immune recovery following allogeneic hematopoietic cell transplantation (HCT) for SCID. Although CDR3 spectratyping and staining of Vβ families provide approximations of the diversity of… read more here.
Keywords: diversity; scid; hct; post ... See more keywords
A family history of SCID and unrevealing WES: An approach to management and guidance of patients.
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DOI: 10.1016/j.clim.2020.108520
Abstract: Severe Combined Immunodeficiency (SCID) is a genetically heterogeneous group of disorders characterized by severe T cell lymphopenia and defective T and B cell function. Without prompt diagnosis and early intervention, patients with SCID typically die… read more here.
Keywords: family history; history scid; scid unrevealing; wes approach ... See more keywords
T26 Brief Assessment Of Major Depression For Genetic Studies: Validation Of Cidi-Sf Screening With Scid Interviews
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DOI: 10.1016/j.euroneuro.2016.09.514
Abstract: Background Studies of common genetic variants in complex psychiatric disorders such as major depression require samples that are too large (tens or hundreds of thousands) than can typically be collected with phenotyping methods involving direct… read more here.
Keywords: depression; validation; mdd; scid ... See more keywords
In vivo gene therapy for canine SCID-X1 using cocal-pseudotyped lentiviral vector.
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DOI: 10.1089/hum.2020.127
Abstract: Hematopoietic stem and progenitor cell (HSPC)-based ex vivo gene therapy has demonstrated clinical success for X-linked severe combined immunodeficiency (SCID-X1) patients who lack a suitable donor for HSPC transplantation. Nevertheless, this form of treatment is… read more here.
Keywords: vector; gene therapy; scid; vivo gene ... See more keywords
Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole‐exome sequencing and the potential benefit of newborn screening
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DOI: 10.1111/jdv.13888
Abstract: Editor The patient’s parents provided their written informed consent to participate in this study, in accordance with the European Society for Blood and Marrow Transplantation’s ethical framework (Clinical Investigation Centre: 334) and the tenets of… read more here.
Keywords: exome sequencing; scid; whole exome; mutation ... See more keywords
Creating effective biocontainment facilities and maintenance protocols for raising specific pathogen-free, severe combined immunodeficient (SCID) pigs
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DOI: 10.1177/0023677217750691
Abstract: Severe combined immunodeficiency (SCID) is defined by the lack of an adaptive immune system. Mutations causing SCID are found naturally in humans, mice, horses, dogs, and recently in pigs, with the serendipitous discovery of the… read more here.
Keywords: research; scid pigs; scid; biocontainment facilities ... See more keywords