CHEDIAK-HIGASHI SYNDROME: A NOVEL MUTATION

被引：0

作者：

Buldeo, Suvarna ^{[1
]}

Pillay, Ashendri ^{[2
]}

Chateau, Antoinette ^{[3
]}

Dube-Pule, Anele ^{[3
]}

Naicker, Thirona ^{[4
]}

机构：

[1] iHealth Labs, Ballito, South Africa

[2] Univ KwaZulu Natal, Dept Paediat, Infect Dis, Durban, South Africa

[3] Univ KwaZulu Natal, Sch Clin Med, Dept Dermatol, Durban, South Africa

[4] Univ KwaZulu Natal, Dept Paediat, Genet, Natal, South Africa

来源：

CURRENT ALLERGY & CLINICAL IMMUNOLOGY | 2024年 / 37卷 / 01期

关键词：

Chediak-Higashi syndrome; aplastic fovea; hypopigmented fundi; HLH; LYST; novel mutation;

D O I：

暂无

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

At the age of six weeks, a female patient whose family was known to our clinic presented for elective screening. The white cells on her peripheral smear showed giant inclusions and the ophthalmological examination revealed aplastic fovea with hypopigmented fundi. A clinical diagnosis of Chediak-Higashi syndrome was made.

引用

页码：11 / 13

页数：3

共 9 条

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