Biblio
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 2021;385(20):1868-1880.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients. Clin Immunol. 2023:109757.
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.
HIGH PREVALENCE OF HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS IN ACUTE LIVER FAILURE OF INFANCY. J Pediatr. 2022.
. 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.
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies. J Allergy Clin Immunol. 2019.
New insights into risk factors for transplant-associated thrombotic microangiopathy in pediatric HSCT. Blood Adv. 2020;4(11):2418-2429.
Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity. J Clin Immunol. 2023.
Novel antivirals for severe enterovirus infection in immunocompromised hosts; a case series. J Infect. 2024:106142.