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
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations
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DOI: 10.1007/s10875-017-0433-3
Abstract: Deficiency of adenosine deaminase (ADA, EC3.5.4.4), a housekeeping enzyme of purine metabolism encoded by the Ada gene, is a cause of human severe combined immune deficiency (SCID). Numerous deleterious mutations occurring in the ADA gene… read more here.
Keywords: combined immune; immune deficiency; adenosine deaminase; deficiency ... See more keywords
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
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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
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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
Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-025-01873-3
Abstract: The safety and tolerability of elapegademase (elapegademase-lvlr; Revcovi®) a PEGylated recombinant adenosine deaminase (ADA), were demonstrated in two Phase 3 clinical trials in the U.S. and Japan in patients with ADA-deficient severe combined immunodeficiency (ADA-SCID).… read more here.
Keywords: adenosine deaminase; ada; elapegademase; severe combined ... See more keywords
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency
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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
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
Late effects following hematopoietic cell transplantation for severe combined immunodeficiency: critical factors and therapeutic options
Sign Up to like & getrecommendations! Published in 2024 at "Expert Review of Clinical Immunology"
DOI: 10.1080/1744666x.2024.2402948
Abstract: ABSTRACT Introduction Severe combined immunodeficiency (SCID) is an inborn error of immunity that is fatal without hematopoietic cell transplantation (HCT) or gene therapy (GT). Survival outcomes have improved, largely due to implementation of SCID newborn… read more here.
Keywords: cell transplantation; late effects; hematopoietic cell; combined immunodeficiency ... See more keywords
Political analysis of the neonatal screening for severe combined immunodeficiency - Curitiba, Brazil
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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
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency.
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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