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Whim syndrome
An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
Pronunciation
/hwɪm ˈsɪnˌdroʊm/
/wɪm ˈsɪndrəʊm/
Categories
genetic disease
primary immunodeficiency disease
rare disease