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Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants - Genes & Immunity

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Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants - Genes & Immunity

Warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome is a rare primary immunodeficiency predominantly caused by heterozygous gain-of-function mutations in CXCR4 C-terminus. We assessed genotype–phenotype correlations for known pathogenic CXCR4 variants and in vitro response of each variant to mavorixafor, an investigational CXCR4 antagonist.

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Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants - Genes & Immunity

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Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants - Genes & Immunity

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