T Blaine Crowley1, Ian M Campbell2, Emily J Liebling3, Michele P Lambert4, Lorraine E Levitt Katz5, Jennifer Heimall6, Alice Bailey1, Daniel E McGinn1, Donna M McDonald McGinn1, Kathleen E Sullivan7. 1. Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. 2. Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. 3. Division of Rheumatology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. 4. Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. 5. Division of Endocrinol & Diabetes, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. 6. Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. 7. Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address: sullivank@chop.edu.
Abstract
BACKGROUND: Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field. OBJECTIVES: We sought to use a carefully phenotyped cohort to study immune parameters associated with autoimmunity and atopy in 22q11.2 deletion syndrome to define biomarkers associated with immune-mediated disease in this syndrome. METHODS: Chart review validated autoimmune disease and atopic condition diagnoses. Laboratory data were extracted for each subcohort and plotted according to age. A random-effects model was used to define statistical significance. RESULTS: CD19, CD4, and CD4/45RA lymphocyte populations were not different from the general cohort for patients with atopic conditions. CD4/45RA T cells were significantly lower in the subjects with immune thrombocytopenia compared with the general cohort, and CD4 T-cell counts were lower in patients with autoimmune thyroid disease. CONCLUSIONS: The mechanisms of autoimmunity in cytopenias may be distinct from those of solid-organ autoimmunity in 22q11.2 deletion syndrome. This study identifies potential biomarkers for risk stratification among commonly obtained laboratory studies.
BACKGROUND: Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field. OBJECTIVES: We sought to use a carefully phenotyped cohort to study immune parameters associated with autoimmunity and atopy in 22q11.2 deletion syndrome to define biomarkers associated with immune-mediated disease in this syndrome. METHODS: Chart review validated autoimmune disease and atopic condition diagnoses. Laboratory data were extracted for each subcohort and plotted according to age. A random-effects model was used to define statistical significance. RESULTS: CD19, CD4, and CD4/45RA lymphocyte populations were not different from the general cohort for patients with atopic conditions. CD4/45RA T cells were significantly lower in the subjects with immune thrombocytopenia compared with the general cohort, and CD4 T-cell counts were lower in patients with autoimmune thyroid disease. CONCLUSIONS: The mechanisms of autoimmunity in cytopenias may be distinct from those of solid-organ autoimmunity in 22q11.2 deletion syndrome. This study identifies potential biomarkers for risk stratification among commonly obtained laboratory studies.
Authors: Rebecca E Kotcher; Daniel B Chait; Jason M Heckert; T Blaine Crowley; Kimberly A Forde; Nitin K Ahuja; Maria R Mascarenhas; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn; James C Reynolds Journal: J Pediatr Gastroenterol Nutr Date: 2022-06-01 Impact factor: 3.288
Authors: Jenny Lingman Framme; Christina Lundqvist; Anna-Carin Lundell; Pauline A van Schouwenburg; Andri L Lemarquis; Karolina Thörn; Susanne Lindgren; Judith Gudmundsdottir; Vanja Lundberg; Sofie Degerman; Rolf H Zetterström; Stephan Borte; Lennart Hammarström; Esbjörn Telemo; Magnus Hultdin; Mirjam van der Burg; Anders Fasth; Sólveig Oskarsdóttir; Olov Ekwall Journal: J Clin Immunol Date: 2022-01-26 Impact factor: 8.542