Centralized Sequencing Program Featured Research

Publications arising from collaborations with the NIAID Centralized Sequencing Program.

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Sterile alpha motif (SAM) and Src homology-3 (SH3) domain-containing 3 (SASH3), also called SH3-containing lymphocyte protein (SLY1), is a putative adaptor protein that is postulated to play an important role in the organization of signaling complexes...

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

Inborn errors of immunity (IEI) are a genetically heterogeneous group of disorders with a broad clinical spectrum. Identification of molecular and functional bases of these disorders is important for diagnosis, treatment, and an understanding of the human immune...

Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations

Comprehensive exome analysis has diagnostic and clinical utility: one-quarter of the molecular diagnoses in this study were found in genes not associated with inborn errors...

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