Date of Report

Jun 11, 2024

Full Name

Receptor-interacting serine/threonine-protein kinase 1



The RIPK1 gene encodes a protein that is an important signaling molecule involved in pathways impacting development, damage response, and immunity (Sun et al. 2012).

Individuals with mutations in the RIPK1 gene are affected with conditions impacting their immune response. Individuals with a loss of function of both copies of the RIPK1 gene present with immunodeficiency 57 with autoinflammation (Cuchet-Lourenco et al. 2018). Individuals with one functional copy of the RIPK1 gene present with autoinflammation, episodic fevers, and lymphedema (Lalaoui et al. 2020).

Database Links

GeneCards: RIPK1

NCBI Gene: 8737

OMIM: 603453

UniProtKB/Swiss-Prot: Q13546

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene RIPK1
Inheritance Pattern Autosomal dominant and recessive
Position (hg19) chr6:g.3083380A>C
Transcript NM_003804.6
DNA Change c.521A>C
Protein Change p.Asn174Thr
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