Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies - PubMed (original) (raw)

Functional IRF3 deficiency in a patient with herpes simplex encephalitis.

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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

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High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency.

Yang R, Weisshaar M, Mele F, Benhsaien I, Dorgham K, Han J, Croft CA, Notarbartolo S, Rosain J, Bastard P, Puel A, Fleckenstein B, Glimcher LH, Di Santo JP, Ma CS, Gorochov G, Bousfiha A, Abel L, Tangye SG, Casanova JL, Bustamante J, Sallusto F. Yang R, et al. J Exp Med. 2021 Aug 2;218(8):e20202726. doi: 10.1084/jem.20202726. Epub 2021 Jun 23. J Exp Med. 2021. PMID: 34160550 Free PMC article.