Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
J Clin Immunol
; 44(5): 121, 2024 May 17.
Article
em En
| MEDLINE
| ID: mdl-38758287
ABSTRACT
Autosomal recessive CARD9 deficiency can underly deep and superficial fungal diseases. We identified two Japanese patients, suffering from superficial and invasive Candida albicans diseases, carrying biallelic variants of CARD9. Both patients, in addition to another Japanese and two Korean patients who were previously reported, carried the c.820dup CARD9 variant, either in the homozygous (two patients) or heterozygous (three patients) state. The other CARD9 alleles were c.104G > A, c.1534C > T and c.1558del. The c.820dup CARD9 variant has thus been reported, in the homozygous or heterozygous state, in patients originating from China, Japan, or South Korea. The Japanese, Korean, and Chinese patients share a 10 Kb haplotype encompassing the c.820dup CARD9 variant. This variant thus originates from a common ancestor, estimated to have lived less than 4,000 years ago. While phaeohyphomycosis caused by Phialophora spp. was common in the Chinese patients, none of the five patients in our study displayed Phialophora spp.-induced disease. This difference between Chinese and our patients probably results from environmental factors. (161/250).
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Efeito Fundador
/
Proteínas Adaptadoras de Sinalização CARD
Limite:
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Japão