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A novel syndromic immunodeficiency associated with mutation of rasGTPase-Activating Protein RASAL3

In this study we describe a set of compound heterozygous variants in the RASAL3 gene, causing primary immunodeficiency associated with T cell lymphopenia, recurrent sinopulmonary infections, oral ulcers, skin lesions, persistent hematuria, and atopy. The patient also displayed neurological abnormalities, including developmental delay, seizures, and hypoalgesia. WES data from the proband (patient 1) is deposited.

Type: Whole Genome Sequencing
Archive: European Genome-phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000003006	Whole exome sequencing of a patient, identifying compound heterozygous variants in the RASAL3 gene associated with T cell lymphopenia, recurrent sinopulmonary infections, oral ulcers, skin lesions, persistent hematuria, and atopy, and additional neurological abnormalities.	Illumina HiSeq 2500	1