Case Report ARTICLE
Immunological features of NBAS deficiency: report of the first case identified through newborn screening for primary immunodeficiency and review of the literature.
- 1Pediatric and Immunology Unit, Department of Health Sciences, Meyer University Hospital, Italy
- 2Pediatric and Liver Unit, Department of Health Sciences, Meyer University Hospital, Italy
- 3Neonatal Intensive Care Unit, Department of Health Sciences, Meyer University Hospital, Italy
- 4Medical Genetics Unit, Department of Health Sciences, Meyer University Hospital, Italy
- 5Medical genetics unit, Meyer children's University Hospital, Italy
- 6Pediatric and Immunology Unit, department of health sciences, University of Florence, Meyer children’s University Hospital, Italy
This is the first case of NBAS disease detected by NBS for primary immunodeficiency. NBS with KRECs is revealing unknown potentialities detecting conditions that benefit from early
recognition like NBAS deficiency. Immune phenotyping should be mandatory in patients with NBAS deficiency since they can exhibit severe immunodeficiency with hypogammaglobulinemia as the most frequent finding. Fever during infections is a known trigger of acute liver failure in this syndrome, so immune dysfunction, should never go unnoticed in NBAS deficiency in order to start adequate therapy and prophylaxis.
Keywords: KREC, SOPH, Newborn screening (NBS), Primary immunodeficiency (PID), ILFS2, NBAS, Neuroblastoma amplified sequence deficiency
Received: 05 Feb 2019;
Accepted: 02 Aug 2019.
Edited by:Antonio Condino-Neto, University of São Paulo, Brazil
Reviewed by:Elham Hossny, Ain Shams University, Egypt
Janet Chou, Boston Children's Hospital, Harvard Medical School, United States
Mirjam Van Der Burg, Leiden University Medical Center, Netherlands
Reza Yazdani, Tehran University of Medical Sciences, Iran
Copyright: © 2019 Ricci, Lodi, Serranti, Moroni, Belli, mancano, La Barbera, Forzano, Mangone, Indolfi and Azzari. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Dr. Silvia Ricci, Department of Health Sciences, Meyer University Hospital, Pediatric and Immunology Unit, Florence, Italy, email@example.com