Abstract
The WHIM syndrome is a rare, autosomal dominant primary immunodeficiency disorder characterized by warts, hypogammaglobulinemia, recurrent infections, and myelocathexis. The authors summarize current knowledge on molecular basis, diagnostic criteria, therapy, and clinical manifestations of WHIM syndrome. The authors propose that delayed diagnosis and treatment of children with WHIM may be due to incomplete presentation of the disease.
Publication types
-
Case Reports
-
English Abstract
-
Review
MeSH terms
-
Agammaglobulinemia* / diagnosis
-
Agammaglobulinemia* / genetics
-
Agammaglobulinemia* / therapy
-
Bacterial Infections* / diagnosis
-
Bacterial Infections* / genetics
-
Bacterial Infections* / therapy
-
Child
-
Female
-
Humans
-
Neutropenia* / diagnosis
-
Neutropenia* / genetics
-
Neutropenia* / therapy
-
Pedigree
-
Point Mutation*
-
Prognosis
-
Receptors, CXCR4 / genetics*
-
Receptors, CXCR4 / metabolism
-
Recurrence
-
Sequence Analysis, DNA
-
Syndrome
-
Warts* / diagnosis
-
Warts* / genetics
-
Warts* / therapy