Associated Papers
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.
Yonkof JR et al.
Frontiers in Immunology, 2020
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Sorte HS et al.
Molecular Genetics & Genomic Medicine, 2016
The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.
Roncagalli R et al.
The Journal of Experimental Medicine, 2016
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Wang Y et al.
The Journal of Experimental Medicine, 2016
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