Results:
Of the 73 survey respondents, 10 patients experienced COVID-19 infection (13.7%) [Table 1]. Seven of these ten patients (70%) reported germline SBDS mutations. The median age of the COVID-19 positive patients at time was diagnosis was 16.5 years (range 1-37 years). Of the three patients who both developed COVID-19 infection and received a COVID-19 vaccine, all of them received the vaccine following COVID-19 infection, two to six months following infection (median 5 months). None of them experienced serious vaccine-related adverse events. All vaccinated patients received two mRNA vaccine doses. All patients in the SDS Registry who developed COVID-19 were symptomatic of infection with the most common symptoms being respiratory, such as congestion or cough (70%), or fever (60%). The median duration of symptoms was 4.5 days (range 2-100 days; excluding an outlier of 100 days, range 4-14 days). Only one of ten patients required hospitalization, and this patient was one year-old (PT-6). She was hospitalized two days after symptom onset and was hospitalized for four days. She did not require supplemental oxygen, noninvasive positive-pressure ventilation, or intubation and mechanical ventilation. She did not require admission to the intensive care unit.
Of the survey respondents who developed COVID-19 infection, none of them reported having a pre-existing condition other than SDS. Pre-existing conditions listed in the survey included hypertension, diabetes mellitus, asthma, and routine need for immune globulin (IVIG). Respondents were able to report other conditions that were not listed. No patients who developed COVID-19 infection reported a history of tobacco use or vaping. Six of them (60%) reported regularly taking pancreatic enzymes, and two of them (20%) reported regularly administering granulocyte colony-stimulating factor (G-CSF) prior to COVID infection (PT-8 and PT-9). One patient reported a history of a hematopoietic stem cell transplant over 15 years ago (PT-4).
Survey respondents were asked if they received any of the following COVID-19 infection treatments: remdesivir, hydroxychloroquine/chloroquine, azithromycin, anakinra, tocilizumab, corticosteroids, immune globulin, or the investigational COVID-19 monoclonal antibody, bamlanivimab. One patient (PT-10) received remdesivir, and one patient (PT-4) received systemic corticosteroids. One patient (PT-5) developed “COVID toes” – swelling, discoloration, and/or pain of the toes associated with COVID-19 – and was treated with aspirin and topical corticosteroids. She also reported the longest duration of symptoms out of all respondents, 100 days. No patients required pRBC or platelet transfusion during COVID-19 infection, or new administration of G-CSF. No patients developed a venous thromboembolism, multisystem inflammatory syndrome in adults (MIS-A), or children (MIS-C).
In the cohort of SDS registry patients described, most reported having a short duration of symptoms that did not require hospitalization or result in serious virus-related complications. Although the Centers for Disease Control and Prevention (CDC) recommends receiving the COVID-19 vaccine even after developing COVID-19 infection, only 30% of patients with SDS and COVID-19 infection subsequently received the vaccine; three of whom were ineligible to receive the vaccine at the time of survey due to age less than 12. Of the 63 survey respondents who had not developed COVID-19 infection, 18 (28.6%) of them received at least one dose of the COVID-19 vaccine; 15 of whom (83.3%) received two doses. Of the 18 respondents who received at least one COVID-19 vaccine dose, arm pain was the most common side effect (66.7%), followed by fatigue (50%), fever and/or chills (38.9%), and muscle aches (33.3%). Other side effects listed in the survey were rash and anaphylaxis; no respondents reported experiencing these symptoms. Five of 18 recipients (27.8%) reported experiencing no side effects. Thirteen (72.2%) of 18 vaccinated respondents received the Pfizer vaccine while the remainder received the Moderna vaccine.