Case Report ARTICLE
Novel compound heterozygous mutations in IL-7 receptor α gene in a 15-month-old girl presenting with thrombocytopenia, normal T cell count and maternal engraftment
- 1Academic Department of Pediatrics, Unit of Immune and Infectious Diseases, Bambino Gesù Children Hospital (IRCCS), Italy
- 2Department of Systems Medicine, Faculty of Medicine and Surgery, University of Rome Tor Vergata, Italy
- 3Laboratory of Medical Genetics Unit, Bambino Gesù Children Hospital (IRCCS), Italy
- 4Paediatric Onco-haematology Unit, Casa Sollievo della Sofferenza (IRCCS), Italy
Patients with severe combined immunodeficiency (SCID) exhibit T lymphopenia and profound impairments in cellular and humoral immunity. IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID usually presenting in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. Here, we report an atypical and delayed onset of IL7Rα-SCID in a 15-month old girl presenting with thrombocytopenia. Immunological investigations showed a normal lymphocytes count with isolated CD4-penia, absence of naïve T cells, marked hypergammaglobulinemia and maternal T cell engraftment. Targeted next generation sequencing (NGS) revealed two novel compound heterozygous mutations in IL-7Rα gene: c.160T>C (p.S54P) and c.245G>T (p.C82F). The atypical onset and the unusual immunological phenotype expressed by our patient highlights the diagnostic challenge in the field of primary immunodeficiencies (PID) and in particular in SCID patients where prompt diagnosis and therapy greatly affects the survival.
Keywords: SCID - severe combined immunodeficiency, IL-7Rα gene, novel compound heterozygous mutations, Atypical onset, Maternal engraftment
Received: 25 Jun 2019;
Accepted: 03 Oct 2019.
Copyright: © 2019 Zangari, Cifaldi, Di Cesare, Di Matteo, Chiriaco, Amodio, Cotugno, De Luca, Surace, Ladogana, Rossi, Palma, Cancrini and Finocchi. 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: MD, PhD. Andrea Finocchi, Bambino Gesù Children Hospital (IRCCS), Academic Department of Pediatrics, Unit of Immune and Infectious Diseases, Rome, Italy, firstname.lastname@example.org