ESID-PAGID Diagnostic criteria for WHIM (Warts-HypogammaglobulinemiaInfections-Myelokathexis) syndrome
Definitive diagnosis
Male or female patient with chronic neutropenia (absolute neutrophil count of less than
500/L) and myelokathexis (retention of senescent neutrophils in the bone marrow) and
one of the following:
1. Mutation in the intracellular C-tail of CXCR4
2. Activating mutation of CXCR4
Probable Diagnosis
Male or female patient with chronic neutropenia (absolute neutrophil count of less than
500/L) and myelokathexis (retention of senescent neutrophils in the bone marrow) and
two of the following:
1.
2.
3.
4.
Chronic or recurrent warts
Chronic lymphopenia (absolute lymphocyte count of less than 1500/L)
Serum IgG at or below the normal range for age
A parent with neutropenia and warts
Possible diagnosis
Male or female patient with chronic neutropenia (absolute neutrophil count of less than
500/L) and myelokathexis (retention of senescent neutrophils in the bone marrow).
Spectrum of Disease
WHIM syndrome is an autosomal dominant disorder resulting in neutropenia with
myelokathexis. Most patients present with recurrent infections at less than 3 years of age.
Warts generally begin to appear after five years of age and some patients have hundreds
of warts that can include plantar and genital warts. Increased susceptibility to infection
from members of the herpes virus family can be seen. Lymphopenia is present in most
patients and some patients have very low numbers of B cells. Hypogammaglobulinemia
may be present, but the serum immunoglobulin concentrations do not correlate with the
number of B cells. Most patients develop a normal neutrophil count during infection.