WHIM syndrome 1

An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.

Signs and symptoms

• Abnormal female external genitalia morphology
• Decreased circulating immunoglobulin concentration
• Bronchiectasis
• Abnormal bone marrow cell morphology
• Myelokathexis
• Bone marrow hypercellularity
• Recurrent bacterial infections
• Abnormal morphology of female internal genitalia
• Recurrent upper respiratory tract infections
• Verrucae

Also known as: WHIMS; warts, hypogammaglobulinemia, infections, and myelokathexis; warts-hypogammaglobulinemia-infections-myelokathexis syndrome