This review article considers the utility of calculated globulin as an unbiased and inexpensive screening tool for immunodeficiency. The benefits and practicalities of its clinical implementation and current challenges and limitations are discussed.

Down syndrome (DS) is characterized by lifelong immune dysregulation leading to high rates of autoimmune disorders, complications from infections, immune hypersensitivity, and a unique form of immunodeficiency. Here within, we describe clinical considerations toward monitoring, management, and therapeutic opportunities. We highlight recent research advances that illuminate diagnostic approaches to evaluate immune dysregulation in DS.

Yanes et al. presents evidence-based guidelines from the Australasian Society of Clinical Immunology and Allergy to support clinicians in selecting patients with suspected inborn errors of immunity for genomic testing. The work provides practical recommendations to improve clinical decision-making, delivery of diagnostic genomic testing, and patient outcomes.