Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency.
Ghosh, Sujal; Hönscheid, Andrea; Dückers, Gregor; Ginzel, Sebastian; Gohlke, Holger; Gombert, Michael; Kempkes, Bettina; Klapper, Wolfram; Kuhlen, Michaela; Laws, Hans-Jürgen; Linka, René Martin; Meisel, Roland; Mielke, Christian; Niehues, Tim; Schindler, Detlev; Schneider, Dominik; Schuster, Friedhelm R; Speckmann, Carsten; Borkhardt, Arndt.
; 102(2): e69-e72, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27979922
Functional T cell immunodeficiencies (with T cells present).
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The Ca<sup>2+</sup> sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum.
Evidence of innate lymphoid cell redundancy in humans.
Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.
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A nonsense mutation in IKBKB causes combined immunodeficiency.
Tearing RAGs apart.
Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.