Cernunnos defect in an Iranian patient with T− B+ NK + severe combined immunodeficiency: A case report and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1990
Abstract: Defective Cernunnos gene in nonhomologous end‐joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular… read more here.
Keywords: combined immunodeficiency; defect iranian; cernunnos defect; iranian patient ... See more keywords
Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.
Sign Up to like & getrecommendations! Published in 2021 at "Immunogenetics"
DOI: 10.1007/s00251-021-01219-4
Abstract: Artemis (DCLRE1C) is involved in opening recombination-activating gene (RAG1/RAG2)-generated hairpins during V(D)J recombination, an essential process for the differentiation and maturation of T and B cells. Here, we reported a case of 5-month-old boy with… read more here.
Keywords: versus host; combined immunodeficiency; host disease; compound heterozygous ... See more keywords
Combined Immunodeficiency with Ring Chromosome 21
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0493-z
Abstract: To the Editor, Ring chromosome 21 or mosaic monosomy 21 is a rare complex chromosomal deletion syndrome. Patients present with dysmorphism, neurological sequelae including microcephaly, hypertonia, and seizures, thrombocytopenia, and intellectual impairment. There is also… read more here.
Keywords: immunodeficiency; ring chromosome; immunodeficiency ring; ref ... See more keywords
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0514-y
Abstract: PurposeAll reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of… read more here.
Keywords: chain; diagnosis; combined immunodeficiency; mutation ... See more keywords
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
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
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency
Sign Up to like & getrecommendations! Published in 2018 at "Immunologic Research"
DOI: 10.1007/s12026-018-9007-6
Abstract: Infants with severe combined immunodeficiency (SCID) are at risk of developing severe life-threatening infections if they are inadvertently given attenuated live vaccines. Concomitant appearance of two live vaccine-associated complications in one person is rarely reported.… read more here.
Keywords: combined immunodeficiency; vaccine derived; vaccine; infants severe ... See more keywords
Political analysis of the neonatal screening for severe combined immunodeficiency - Curitiba, Brazil
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Public Health"
DOI: 10.1093/eurpub/ckaa166.1238
Abstract: Severe Combined Immunodeficiency (SCID) is the most aggressive form of primary immunodeficiencies, being able to death within 2 years after birth. In the USA, the screening found that the incidence of SCID was double that… read more here.
Keywords: policy; analysis; combined immunodeficiency; curitiba brazil ... See more keywords
Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency
Sign Up to like & getrecommendations! Published in 2022 at "Open Forum Infectious Diseases"
DOI: 10.1093/ofid/ofac403
Abstract: Abstract Inborn errors of immunity may present with susceptibility to coccidioidomycosis. This is especially so in disorders impairing the interferon-γ and interleukin 12 signaling axis. We describe the first case of cytidine nucleotide triphosphate synthetase… read more here.
Keywords: combined immunodeficiency; ctps1; mediastinal coccidioidomycosis; seronegative mediastinal ... See more keywords
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000000892
Abstract: Severe combined immunodeficiency (SCID) is a defect in the differentiation and function of T cells. An increased malignancy risk, mainly lymphatic malignancy, has been described in patients with SCID. We report a patient with X-linked… read more here.
Keywords: myeloid leukemia; combined immunodeficiency; acute myeloid; patient linked ... See more keywords
Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia
Sign Up to like & getrecommendations! Published in 2019 at "Immunological Reviews"
DOI: 10.1111/imr.12729
Abstract: 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. Upon being flagged… read more here.
Keywords: screening severe; combined immunodeficiency; cell; newborn screening ... See more keywords
Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T‐cell receptor excision circle‐based method in Victorian dried blood spots
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.13659
Abstract: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an ideal condition to consider for… read more here.
Keywords: immunodeficiency; receptor excision; cell receptor; combined immunodeficiency ... See more keywords