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Article

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Clinical immunology (Orlando, Fla.) - 1 Apr 2009

Shiow Lawrence R, Paris Kenneth, Akana Matthew C, Cyster Jason G, Sorensen Ricardo U, Puck Jennifer M

Abstract excerpt

Defects causing severe combined immunodeficiency (SCID) have been reported in pathways mediating antigen receptor rearrangement, antigen receptor and cytokine signaling, and purine metabolism. Recognizing that the actin regulator Coronin-1A is essential for development of a normal peripheral T cell compartment in mouse models, we identified absence of Coronin-1A in a girl with T-B+NK+ SCID who suffered recurrent...

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Identifiers

PMID: 19097825
DOI: 10.1016/j.clim.2008.11.002
PMCID: PMC2692687

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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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