Study of inborn errors of immunity associated lymphoid proliferations identifies association of presence of somatic variations with large cell morphology, copy number alterations in TNFAIP3 and heterozygous variants in EMSY.

Arzu Saglam¹, Jyoti Kumar², Jessica Van Ziffle³, Shuvam Mukherjee⁴, Kunwar Singh⁵, Roberto Ruiz-Cordero⁶, Muir Morrison⁴, Franklin Huang⁷, Deniz Cagdas⁸, Ece Ozogul⁹, Ayşegul Uner⁹, Robert S Ohgami¹⁰

¹Department of Pathology, Hacettepe University, Ankara, 06230, Turkey. eminearzusaglam@yahoo.com.

²Department of Diagnostic Medicine, Dell Medical School, The University of Texas, Austin, TX, USA.

³Department of Pathology, University of California, San Francisco, CA, USA.

⁴Institute for Research and Innovation in Diagnostic and Precision Medicine, ARUP Laboratories, Utah, USA.

⁵Guardant Health, Palo Alto, CA, USA.

⁶Department of Pathology, University of Miami, Miami, USA.

⁷Department of Medicine, University of California, San Francisco, CA, USA.

⁸Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

⁹Department of Pathology, Hacettepe University, Ankara, 06230, Turkey.

¹⁰Department of Pathology, University of Utah; and, Institute for Research and Innovation in Diagnostic and Precision Medicine, ARUP Laboratories, Utah, USA.

PubMed DOI

Abstract

Lymphoproliferative disorders (LPDs) associated with inborn errors of immunity (IEI) are rare entities and their genetic basis is not well defined. We performed targeted deep sequencing using a panel of 529 genes to investigate the single nucleotide variants (SNVs), insertion/deletions (INDELs), structural rearrangements (SVs), and copy number variants (CNVs) in 16 lymphoproliferations associated…

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