Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency

J Clin Immunol. 2020 May;40(4):658-661. doi: 10.1007/s10875-020-00779-6. Epub 2020 Apr 29.

Authors

Lisa A Kohn¹, Joseph D Long², Edward C Trope², Caroline Y Kuo²

Affiliations

¹ Department of Pediatrics, Division of Allergy, Immunology and Rheumatology, University of California, Los Angeles, Los Angeles, CA, USA. [email protected].
² Department of Pediatrics, Division of Allergy, Immunology and Rheumatology, University of California, Los Angeles, Los Angeles, CA, USA.

No abstract available

Keywords: Apoptosis; Autoimmune lymphoproliferative syndrome; FADD deficiency; Genetics.

Publication types

Case Reports
Letter

MeSH terms

Apoptosis
Cells, Cultured
Exanthema
Exome Sequencing
Fas-Associated Death Domain Protein / genetics*
Fever
Heterozygote
Humans
Immunologic Deficiency Syndromes / genetics*
Infant
Male
Mutation / genetics*
Pedigree
Respiratory Insufficiency
T-Lymphocytes / immunology*

Substances

FADD protein, human
Fas-Associated Death Domain Protein