Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases

Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion

(2020) Emilia Cirillo et al.   Journal of Allergy and Clinical Immunology-In Practice

Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study

(2020) Deepti R. Deshpande et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 Deletion Syndrome

(2019) Davide Montin et al.   Journal of Allergy and Clinical Immunology-In Practice

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single centre

(2019) Giuliana Giardino et al.   BLOOD

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France

(2019) Perrine Mahé et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

(2018) Blaine Crowley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome

(2018) Erica Schindewolf et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

(2017) Alain Fischer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Practical guidelines for managing adults with 22q11.2 deletion syndrome

(2015) Wai Lun Alan Fung et al.   GENETICS IN MEDICINE

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Association Between IgA Deficiency & Other Autoimmune Conditions: A Population-Based Matched Cohort Study

(2014) Jonas F. Ludvigsson et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

(2014) Eva Froňková et al.   PLoS One

Asthma and Risk of Selective IgA Deficiency or Common Variable Immunodeficiency: A Population-Based Case-Control Study

(2013) Sang-Hwa Urm et al.   MAYO CLINIC PROCEEDINGS

Abnormalities in IgA and IgM are associated with treatment-resistant ITP

(2012) J. E. Arnason et al.   BLOOD

Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome

(2011) Brian E. Tison et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Prospective Study of Influenza Vaccination and a Comparison of Immunologic Parameters in Children and Adults with Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Abbas F. Jawad et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

(2011) Anne S. Bassett et al.   JOURNAL OF PEDIATRICS