Since the World Health Organization declared Coronavirus Disease 2019 (COVID-19) a global pandemic, a few articles were published on the working experience of pediatric residents, especially from the most exposed countries worldwide. Pediatric residents continue to be essential pillars in managing and treating pediatric diseases and are currently fundamental health care providers for every ill patient, including children and adolescents with COVID-19. Although severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection is changing everyone’s life, this previously unknown disease can represent a training tool and a hard challenge for pediatric residents to improve their skills and take part in an ongoing process of knowledge.
Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by IFNGR1 germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees of severity. Most of the autosomal recessive IFNGR1 mutations are homozygous loss-of-function single-nucleotide variants, whereas large genomic deletions and compound heterozygosity have been very rarely reported. Herein we describe the clinical presentation, diagnosis, and successful treatment with hematopoietic stem cell transplantation of a child with disseminated Mycobacterium avium infection due to compound heterozygosity for a subpolymorphic copy number variation and a novel splice-site variant.
Background
Concern about SARS‐CoV‐2 infection has increased over the possible effects on immunocompromised patients. Among them, recipients of solid organ transplantation deserve special attention. Data from the adult population suggest they may be at high risk for developing severe COVID‐19, but little data are available for pediatric solid organ transplantation recipients.
Methods
From March 2020 to April 2021, KT recipients aged <21 years, routinely managed at our center, who underwent RT‐PCR testing with nasopharyngeal swabs to detect SARS‐CoV‐2 infection, were studied. Tests were performed according to clinical and/or epidemiological criteria.
Results
One hundred one transplanted patients were managed at our center during the observation period. Among this population, 57 patients were tested for SARS‐CoV‐2 infection with a RT‐PCR test and were subsequently enrolled. A total of 111 swabs were performed. Twelve out of the 57 patients tested (21.1%) had a positive RT‐PCR test result. Among the positive patients, eight were symptomatic (66.7%). Median duration of symptoms and RT‐PCR positivity was two days (IQR 1–2.25) and 17 days (IQR 11–27.25), respectively. No patients required specific treatment or IS therapy reduction; no one was admitted to hospital.
Conclusions
Our data show that pediatric renal transplant recipients are at low risk of clinically relevant COVID‐19, as is the healthy age‐related population. On the contrary, our results differed substantially from those seen in adult SOT recipient populations that have a high incidence and an even earlier and higher mortality rate.
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