Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 2021;385(20):1868-1880.
Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, et al. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018.
Yakici N, Kreins AY, Catak MCihangir, Babayeva R, Erman B, Kenney H, Gungor HEke, Cea PA, Kawai T, Bosticardo M, et al. Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients. Clin Immunol. 2023:109757.
Hiwarkar P, Gajdosova E, Qasim W, Worth A, Breuer J, Chiesa R, Ridout D, Edelsten C, Moore A, Amrolia P, et al. Frequent occurrence of Cytomegalovirus retinitis during immune-reconstitution warrants regular ophthalmic screening in high-risk pediatric allogeneic hematopoietic stem cell transplant recipients. Clin Infect Dis. 2014.
Hadzic N, Molnar E, Height S, Kovács G, Dhawan A, Andrikovics H, Worth A, Gilmour KC. HIGH PREVALENCE OF HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS IN ACUTE LIVER FAILURE OF INFANCY. J Pediatr. 2022.
Tesch VKatharina, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, et al. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol. 2019.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, et al. Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
Elfeky R, Shah RM, Unni MNm, Ottaviano G, Rao K, Chiesa R, Amrolia P, Worth A, Flood T, Abinun M, et al. New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies. J Allergy Clin Immunol. 2019.
Elfeky R, Lucchini G, Lum S-H, Ottaviano G, Builes N, Nademi Z, Battersby A, Flood T, Owens S, Cant AJ, et al. New insights into risk factors for transplant-associated thrombotic microangiopathy in pediatric HSCT. Blood Adv. 2020;4(11):2418-2429.
Golwala ZM, Bhat NGireesh, Xu-Bayford J, Stankova T, Adams S, Morris EC, Qasim W, Booth C, Worth A, Kusters MA, et al. Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity. J Clin Immunol. 2023.
Meinhardt A, Reilly L, Kaliakatsos M, Abdel-Aziz K, Alsharidah S, Bodi I, Booth C, Chetty K, Evans J, Ferreras-Antolín L, et al. Novel antivirals for severe enterovirus infection in immunocompromised hosts; a case series. J Infect. 2024:106142.
Lum SHan, Elfeky R, Achini FR, Margarit-Soler A, Cinicola B, Perez-Heras I, Nademi Z, Flood T, Cheetham T, Worth A, et al. Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency. J Clin Immunol. 2020.
Venturini C, Colston JM, Charles O, Lankina A, Best T, Atkinson C, Forrest C, Williams CA, Rao K, Worth A, et al. Persistent low-level variants in a subset of viral genes are highly predictive of poor outcome in immunocompromised patients with cytomegalovirus infection. J Infect Dis. 2024.