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Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation
PurposeA male infant developed generalized rash, intestinal inflammation and severe infections including persistent cytomegalovirus. Family history was negative, T cell receptor excision circles wereExpand
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Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
BACKGROUND Severe combined immunodeficiency (SCID) is characterized by arrested T-lymphocyte production and by B-lymphocyte dysfunction, which result in life-threatening infections. Early diagnosisExpand
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Transcription Factor Zinc Finger and BTB Domain 1 Is Essential for Lymphocyte Development
Absent T lymphocytes were unexpectedly found in homozygotes of a transgenic mouse from an unrelated project. T cell development did not progress beyond double-negative stage 1 thymocytes, resultingExpand
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A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70
Chan et al. describe a combination of alleles with hypomorphic and activating mutations in the T cell signaling molecule ZAP-70 in a patient with autoimmunity.
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Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.
During B and T lymphocyte maturation, V(D)J recombination is initiated by creation of DNA double-strand breaks. Artemis is an exonuclease essential for their subsequent repair by nonhomologousExpand
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Coronin-1A: Immune Deficiency in Humans and Mice
Since the discovery of coronins in 1991 significant research has been carried out to understand their molecular structure and cellular mechanisms of the action. While a number of binding partnersExpand
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Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.
T-cell receptor excision circles (TRECs) are circular DNA molecules formed during rearrangement of the T-cell receptor (TCR) genes during lymphocyte development. Copy number of the junctional portionExpand
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Early Outcome of a Phase I/II Clinical Trial (NCT03538899) of Gene-Corrected Autologous CD34+ Hematopoietic Cells and Low-Exposure Busulfan in Newly Diagnosed Patients with Artemis-Deficient Severe
Background ART-SCID represents ∼3% of all SCID, but occurs in 1/2000 births in Athabascan-speaking Native Americans. Artemis protein, encoded by DCLRE1C, is essential for repairing DNAExpand
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