4.6 Letter

A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation

Related references

Note: Only part of the references are listed.
Article Allergy

Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders

Simona Coppola et al.

Summary: This study clinically and functionally classified three pathogenic variants of CDC42 at the C-terminus and found that they differently impact protein stability, localization, and function, causing various clinical diseases.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)

Article Immunology

Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation

Masahiko Nishitani-Isa et al.

Summary: Mutations in the C-terminal region of the CDC42 gene lead to severe neonatal-onset autoinflammation. Abnormal subcellular localization of CDC42 C-terminal variants is a common pathological feature shared with inflammatory phenotypes, and this localization is associated with pyrin inflammasome activation. This study reveals an unexpected association between CDC42 subcellular localization and the mechanism of pyrin inflammasome formation.

JOURNAL OF EXPERIMENTAL MEDICINE (2022)

Review Immunology

RHO GTPases: from new partners to complex immune syndromes

Rana El Masri et al.

Summary: Ras homology (RHO) GTPases play crucial roles in triggering multiple immune functions through interactions with effectors and kinases, and recent discoveries of new partners and genetic mutations in RHO GTPase signaling hubs offer novel therapeutic opportunities.

NATURE REVIEWS IMMUNOLOGY (2021)

Article Genetics & Heredity

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)