Ruth Johnson, Alexis V Stephens, Rachel Mester, Sergey Knyazev, Lisa A Kohn, Malika K Freund, Leroy Bondhus, Brian L Hill, Tommer Schwarz, Noah Zaitlen, Valerie A Arboleda, Lisa A Bastarache, Bogdan Pasaniuc, Manish J Butte
Human inborn errors of immunity include rare disorders entailing functional and quantitative antibody deficiencies due to impaired B cells called the common variable immunodeficiency (CVID) phenotype. Patients with CVID face delayed diagnoses and treatments for 5 to 15 years after symptom onset because the disorders are rare (prevalence of ~1/25,000), and there is extensive heterogeneity in CVID phenotypes, ranging from infections to autoimmunity to inflammatory conditions, overlapping with other more common disorders...
May 2024: Science Translational Medicine