publication venue for
- Dual novel variants in CD40 leading to hyper IgM syndrome: a case report of a school-aged female with new-onset recurrent pneumonia. 11:1-6. 2024
- Corrigendum: A novel variant in RUNX1 in a patient with refractory eosinophilic gastrointestinal disease and long-term clinical response to ketotifen. 10:77-77. 2023
- The impact of COVID-19 infection in pediatric and adult patients with primary immunodeficiency: a single center analysis. 10:71-76. 2023
- A novel variant in RUNX1 in a patient with refractory eosinophilic gastrointestinal disease and long-term clinical response to ketotifen. 9:72-76. 2022
- Case series of COVID-19 outcomes in adult patients with inborn errors of immunity. 9:62-66. 2022
- An unusual presentation of DiGeorge syndrome. 9:52-56. 2022
- CTLA4 haploinsufficiency caused by a novel heterozygous splice site mutation. 9:40-44. 2022
- Novel heterozygous FOXN1 mutation identified following newborn screening for severe combined immunodeficiency is associated with improving immune parameters. 9:45-51. 2022
- A novel mutation in TRAC in a patient with abnormal newborn screening for severe combined immunodeficiency. 9:5-10. 2022
- Novel mutation in PIK3CD affecting the Ras-binding domain. 9:11-16. 2022
- Wiskott-Aldrich syndrome caused by a novel mutation in the WAS gene and presenting with a mild phenotype. 8:94-98. 2021
- Chronic mucocutaneous Candidiasis caused by a novel STAT1 mutation: a report of 4 patients. 8:64-67. 2021
- A novel splice site variant in FOXN1 in a patient with abnormal newborn screening for severe combined immunodeficiency and congenital lymphopenia. 8:1-4. 2021
- Homozygous NF-kB1 mutation causing combined immunodeficiency: a histopathological analysis. 8:11-18. 2021
- Report of the Canadian Expert Committee on the management of ADA deficiency. 7:109-115. 2020
- Positive newborn screen: a case of a novel variant in DCLRE1C in a patient with SCID. 7:46-48. 2020
- Report of the National Immunoglobulin Replacement Expert Committee: algorithm for diagnosis of immunodeficiency requiring antibody replacement therapy. 6:31-33. 2019
- Case of 22q11.2 Deletion Syndrome Not Identified by <i>TBX1</i> Screening with a Positive SCID Newborn Screen. 5:17-20. 2018
- Novel variant in IGHM gene in a patient with agammaglobulinemia: A case report of a preschool child presenting with recurrent pneumonia. 00:1-5.