A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy

• Published in: Immunogenetics (New York) Vol. 77; no. 1; p. 2
• Main Authors: Spivak, Ilia, Lev, Atar, Simon, Amos J., Barel, Ortal, Somekh, Ido, Somech, Raz
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2025; Springer Nature B.V
• Subjects: Agammaglobulinemia; Allergology; Biomedical and Life Sciences; Biomedicine; Cardiomyopathies - genetics; Cardiomyopathy; Carrier Proteins - genetics; Cell Biology; Diarrhea; Exome Sequencing; Female; Gene Function; Gene sequencing; Genetic counseling; Genetic diversity; Genetic screening; Genetic variance; Heart; Human Genetics; Humans; Immune system; Immunodeficiency; Immunoglobulins; Immunologic Deficiency Syndromes - genetics; Immunology; Infant; Intravenous administration; Lymphocytes; Lymphocytes B; Lymphopenia; Male; Mutation; Patients; Short Communication; Whole genome sequencing; Cardiomyopathy; Primary immunodeficiency; FNIP1

Genetic variants in Folli culin inte racting protein 1 (FNIP1) were recently discovered as monogenic causes for immunodeficiency and cardiomyopathy, with only a few patients diagnosed thus far. In this study, we describe a patient harboring a novel genetic variant in FNIP1 causing immunodeficiency w...