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  • The impact of COVID-19 infection in pediatric and adult patients with primary immunodeficiency: a single center analysis
    LymphoSign Journal • Vol. 10 • No. 4 • pp. 71 - 76
    Background: The global impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been profound, with over 760 million confirmed infections and almost 7 million deaths from coronavirus disease 2019 (COVID-19). The pandemic, officially declared in March 2020, has caused significant and irreversible changes in society. COVID-19 continues to pose a serious threat, ranging from asymptomatic cases to severe outcomes such as acute respiratory distress syndrome and organ failure, putting immense pressure on healthcare systems worldwide. The effects of SARS-CoV-2 infection on individuals with primary immunodeficiency (PID) are not yet fully understood. To date, the available research remains scarce, and the results do not yet provide conclusive evidence of a definitive link between PID and severe SARS-CoV-2 infection. In this study we present the clinical course and outcome of COVID-19 in individuals with PID.Methods: This study is a retrospective analysis involving 65 patients, comprising both pediatric and adult individuals diagnosed with PID, who exhibited symptoms of SARS-CoV-2 infection and tested positive at The Hospital for Sick Children in Toronto, Ontario, Canada. The data was collected from October 2020 to December 2022.Results: Sixty-five patients (36 children and 29 adults) were enrolled in our study. Our patients were diagnosed with primary immunodeficiency, and categorized as combined immunodeficiency, antibody deficiency, immune dysregulation disorder, phagocyte defect, intrinsic and innate immunity, or autoinflammatory disorder. Each of our patients had their COVID-19 infection confirmed through serology, rapid antigen test, and/or PCR. Among the study participants, 24 individuals had pre-existing lung conditions. At the time of contracting the infection, 42 patients had been vaccinated against SARS-CoV-2. The majority of patients in the study experienced mild to moderate symptoms of COVID-19.Conclusion: Our patients with PID exhibited mild to moderate symptoms of COVID-19, and all made a full recovery without any complications.Statement of Novelty: This study sheds light on impact of COVID-19 in individuals with primary immunodeficiency, revealing a noteworthy observation that patients exhibited mild to moderate symptoms, and remarkably, all experienced a complete recovery devoid of complications.
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    Case series of COVID-19 outcomes in adult patients with inborn errors of immunity
    LymphoSign Journal • Vol. 9 • No. 3 • pp. 62 - 66
    Background: Since the onset of the COVID-19 pandemic, a main challenge for clinicians and public health decision-makers has revolved around risk stratification in vulnerable populations, in particular individuals with inborn errors of immunity (IEI). However, available reports of the clinical course of COVID-19 in patients with IEI show wide variability, from a complete lack of symptoms to severe and complicated disease.Objective: To present the clinical features and outcomes of SARS-CoV-2 infection in adult patients with IEI.Methods: We performed a retrospective chart review documenting patient characteristics and clinical course of SARS-CoV-2 infection between December 2021 and July 2022.Results: Ten adult patients with IEI followed in our center were diagnosed with COVID-19, as determined by RT-PCR or rapid antigen testing. IEI in this cohort included those with humoral and combined immunodeficiencies, as well as phagocytic defects. An underlying lung comorbidity was identified in 3 patients. Symptoms were mostly mild and self-limiting, and no severe outcomes, complications, or mortality were noted in this study.Conclusions: We suggest that patients affected by a wide range of both humoral and combined IEI may demonstrate resilience, while highlighting the possible protective effects of vaccination and immunoglobulin replacement in this population.Statement of Novelty: We report on the mild COVID-19 clinical course of 10 adults with IEI.
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    An unusual presentation of DiGeorge syndrome
    LymphoSign Journal • Vol. 9 • No. 2 • pp. 52 - 56
    Introduction: DiGeorge syndrome is a heterogenous disorder with various clinical presentations. Common features include thymic hypoplasia, T cell lymphopenia, conotruncal heart defects, facial dysmorphism, cleft palate, developmental delay, and hypoparathyroidism. The severity of this condition varies, however typical presentation includes congenital heart defects and characteristic facial features. Isolated hypocalcemia in DiGeorge syndrome is rarely seen in neonates but rather as the sole manifestation in older teenagers or adults.Aim: To report a case of an atypical presentation of DiGeorge syndrome.Results: We report here a case of an infant who was diagnosed with DiGeorge syndrome, with seizures being the only clinical manifestation displayed by the patient. He was found to have low T cell receptor excision circle levels on a newborn screen (NBS) for severe combined immunodeficiency (SCID). He did not have facial dysmorphism nor cardiac defect.Conclusion: Our case shows that severe hypocalcemia can be the only presenting symptom in DiGeorge syndrome. Based on this case, we recommend physicians test for calcium levels and PTH at the first encounter with a patient who screened positive during NBS for SCID.Statement of Novelty: We describe an infant with DiGeorge syndrome who presented with severe hypocalcemia.
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