Received: 8 June 2021
Accepted: 26 October 2021
First Online: 9 November 2021
: Legal guardians of the patients (parents) gave consent for participation in this study and for publication of data without disclosing their identity. Ethical aspects of the studies and procedures related to clinical examination, human sample collection and genetic analysis were approved by Institutional Reviews Boards and Ethical committees of participating institutes (see “InternalRef removed” section); Armed Forces Bone Marrow Transplant Centre, Rawalpindi, Pakistan (families OP1, OP2, OP3, OP4) and Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. All methods were performed in accordance with the relevant guidelines and regulations of The Declaration of Helsinki.
: Written consent to publish study findings was obtained from legal guardians of the affected individuals. Probands in current study are children under 17 years of age therefore consent to publish was collected from the parents/guardians. The purpose of the study and its importance to patients and scientific community was explained to the parents of the affected individuals in their local language by the clinicians. The guardians gave written consent without revealing their identity in publication. Clinicians involved in the disease diagnosis coordinated the consent to PI and research team for genetic investigations.
: The authors declare no competing interests.