Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS

J Clin Immunol. 2023 Aug;43(6):1147-1151. doi: 10.1007/s10875-023-01484-w. Epub 2023 May 13.

Authors

Terrie S Ahn¹; Boston Children’s DADA2 Consortium; UCLA DADA2 Consortium; Lisa A Kohn²

Collaborators

Pui Y Lee, Liang Chen, Samira Nazzar-Romero, Alexis V Stephens, Deborah K McCurdy, Maria I Garcia-Lloret

Affiliations

¹ Division of Clinical Immunology and Allergy, Department of Medicine, University of California, Los Angeles, 1245 16th St., Suite 303, Santa Monica, CA, 90404, USA.
² Division of Clinical Immunology and Allergy, Department of Medicine, University of California, Los Angeles, 1245 16th St., Suite 303, Santa Monica, CA, 90404, USA. Lkohn@mednet.ucla.edu.

PMID: 37178281
DOI: 10.1007/s10875-023-01484-w

No abstract available

Publication types

Letter

MeSH terms

Adenosine Deaminase* / genetics
Agammaglobulinemia
Exome Sequencing
Humans
Intercellular Signaling Peptides and Proteins
Mutation / genetics
Severe Combined Immunodeficiency* / diagnosis
Severe Combined Immunodeficiency* / genetics

Substances

Adenosine Deaminase
Intercellular Signaling Peptides and Proteins

Supplementary concepts

Severe combined immunodeficiency due to adenosine deaminase deficiency