Work

Functional studies in a neonate with a DOCK11 VUS guide clinical care

Year: 2026

Type: article

Abstract: O'Connell et al. demonstrate that negative functional studies can meaningfully guide care. In a neonate with a DOCK11 variant of uncertain significance, negative functional studies guide clinical care and highlight the broader value of publishing instructive negative findings in immunology and genomic medicine.

Source: Journal of Human Immunity

DOI: 10.70962/jhi.20260053

Authors: Patrick O’Connell, Conor Gruber, Sofija Buta-Panov, Jaya Ganesh, Dusan Bogunovic, Joshua Milner, Xiao Peng, David Beck, Noelle Lynch, Charlotte Cunningham-Rundles, Carrie Lucas, Shen-Ying Zhang, Sofija Buta Panov, Joseph Oved, Letticia Bright, Bertrand Boisson, Dusan Bogunovic

Institutions: Columbia University Irving Medical Center, Icahn School of Medicine at Mount Sinai

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

Funders: National Institutes of Health, National Institute of Allergy and Infectious Diseases

Award: New York Regional Inborn Errors of Immunity Resource Initiative League (NY-ROYAL)

OpenAlex ID: W7166697530

FWCI:

Cites: 5

Cited by:

Related to: 10