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Article

Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Cellular & molecular immunology - 1 Mar 2021

Edwards Emily S J, Bosco Julian J, Ojaimi Samar, O'Hehir Robyn E, van Zelm Menno C

Abstract excerpt

Predominantly antibody deficiency (PAD) is the most prevalent form of primary immunodeficiency, and is characterized by broad clinical, immunological and genetic heterogeneity. Utilizing the current gold standard of whole exome sequencing for diagnosis, pathogenic gene variants are only identified in less than 20% of patients. While elucidation of the causal genes underlying PAD has provided many insights into...

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PMID: 32801365
DOI: 10.1038/s41423-020-00520-8
PMCID: PMC8027216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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