What Is WHIM Syndrome?

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, recognition and diagnosis is often delayed, sometimes even into adulthood. Consequently, WHIM syndrome may be misdiagnosed and underdiagnosed. The acronym “WHIM” stands for (W)arts, (H)ypogammaglobulinemia, (I)nfections, and (M)yelokathexis; however, patients rarely display all these disease manifestations, and if they do, they may not appear at the same time. Of these, recurrent infection and hypogammaglobulinemia are the most common presentations as well as neutropenia and lymphopenia. https://checkrare.com/whim-syndrome/