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Blood|March 2, 2006
Innate immunity defects in Hermansky-Pudlak type 2 syndromeStefania Fontana, Silvia Parolini, William Vermi, et al.
The Journal of Allergy and Clinical Immunology|July 3, 2014
Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosisRaffaella Meazza, Claudia Tuberosa, Valentina Cetica, et al.
The Journal of Experimental Medicine|May 9, 2007
The length of lipids bound to human CD1d molecules modulates the affinity of NKT cell TCR and the threshold of NKT cell activationCorinna McCarthy, Dawn Shepherd, Sebastian Fleire, et al.
Blood|January 9, 2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndromeSandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, et al.
The Journal of Experimental Medicine|November 19, 2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiencyElena Blanco, Carme Camps, Sameer Bahal, et al.
Nature Immunology|December 18, 2019
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variationLucie Abeler-Dörner, Adam G Laing, Anna Lorenc, et al.
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