WHIM syndrome

WHIM syndrome is a rare primary immunodeficiency whose name stands for warts, hypogammaglobulinemia, infections and myelokathexis. In myelokathexis the bone marrow makes neutrophils normally but retains the mature cells, which die there, so few circulate in the blood and the person has neutropenia. Most affected people also have fewer B lymphocytes and low antibody levels. Symptoms usually begin in early childhood with repeated bacterial infections of the ears, skin, sinuses and lungs that generally respond to antibiotics. Warts caused by human papillomavirus usually develop in the teens, can be widespread and recurrent, and mucosal or genital warts carry an increased risk of progressing to carcinoma. Repeated pneumonia can lead to bronchiectasis. The disorder is caused by gain-of-function variants in the CXCR4 gene and is inherited in an autosomal dominant pattern. Care centers on prompt treatment of infections, granulocyte colony stimulating factor, immunoglobulin replacement, and since 2024 the CXCR4 blocker mavorixafor for patients aged 12 and older.