MYELOID BIOLOGY: Edited by David C. DaleFamily studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndromeDale, David C.a; Dick, Emilyb; Kelley, Meridetha; Makaryan, Vahagna; Connelly, Jimc; Bolyard, Audrey AnnabAuthor Information aDepartment of Medicine, University of Washington bUniversity of Washington, Severe Chronic Neutropenia International Registry, Seattle, Washington c Department of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA Correspondence to David C. Dale, MD, Department of Medicine, University of Washington, Box 356422, 1959 NE Pacific Street, Rm AA522, Seattle, WA 98195, USA. Tel: +1 206 543 7215; fax: +1 206 685 4458; e-mail: firstname.lastname@example.org Current Opinion in Hematology: January 2020 - Volume 27 - Issue 1 - p 11-17 doi: 10.1097/MOH.0000000000000554 Buy Metrics Abstract Purpose of review WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, myelokathexis, or WHIMs) is a very rare autosomal dominant immunodeficiency disorder attributable to mutations in CXCR4. We reviewed clinical manifestations in 24 patients in 9 families to expand understanding of this syndrome. Recent findings Warts, cellulitis and respiratory infections are common in patients with WHIMs. Less commonly these patients have congenital heart disease, human papilloma virus-associated malignancies (cervical and vulvular) and lymphomas. Hearing loss because of recurrent otitis media is another important complication. Treatment with granulocyte colony-stimulating factor is controversial; this review indicates that it is effective to prevent and treat infections based upon long-term observations of patients enrolled in the Severe Chronic Neutropenia International Registry. Understanding the natural history and diversity of this syndrome are important for ongoing clinical trials of novel agents to treat WHIMs. Summary WHIM syndrome has diverse manifestations; some features occur consistently in almost all patients, for example, neutropenia, lymphocytopenia and mild hypogammaglobulinemia. However, the clinical consequences are quite variable across patient cohorts and within families. Each complication is important as a cause for morbidity and a source for patient and family concerns. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.