WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 
mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent 
bacterial infections and myelokathesis. Treatment consists in prophylactic 
antibiotics, immunoglobulin replacement and granulocyte or granulocyte/monocyte 
colony stimulating factors. We present the case of a 21 year old woman who 
showed leukopenia at 10 months of age and one year later multiple infections 
with hypogammaglobulinemia requiring intravenous immunoglobulin. During follow 
up she developed chronic neutropenia. A bone marrow aspiration showed increased 
myeloid series with predominance of immature elements. On the basis of 
infections, low levels of IgG, IgA, IgM and lymphopenia with absent memory B 
cells, a diagnosis of common variable immunodeficiency was made. She started 
intravenous immunoglobulin replacement and prophylactic antibiotics. At age 20, 
small warts in hands that progressed to forearms, knees, abdomen and face were 
recorded. CXCR4 gene sequencing was done detecting a heterozygous p.Arg334STOP 
mutation, confirming WHIM syndrome. This disease is infrequent and difficult to 
diagnose.