National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

WHIM syndrome


Other Names:
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis; WHIMS
Categories:
WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts; (H) = hypogammaglobulinemia; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. In later childhood, individuals develop widespread warts that often become persistent despite treatments that are normally effective. Warts that involve the genital area may eventually cause cancer. It is caused by mutations in the CXCR4 gene and is inherited in an autosomal dominant manner. Treatment may include medications that replace antibodies (intravenous immunoglobulin) or increase the number of neutrophils; vaccinations; and prophylactic antibiotics to reduce the risk of infections.[1][2]
Last updated: 11/13/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of neutrophil morphology 0011992
Bone marrow hypercellularity 0031020
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] 		0001888
Myelokathexis 0031160
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
30%-79% of people have these symptoms
Decreased circulating antibody level 0004313
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] 		0002718
Recurrent pneumonia 0006532
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Verrucae
Warts
0200043
5%-29% of people have these symptoms
Abnormality of the small intestine 0002244
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Cervix cancer 0030079
Limb ataxia 0002070
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Otitis media
Middle ear infection
0000388
Pharyngitis 0025439
Poor fine motor coordination 0007010
Postural instability
Balance impairment
0002172
Sinusitis
Sinus inflammation
0000246
Tetralogy of Fallot 0001636
1%-4% of people have these symptoms
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Cellulitis
Bacterial infection of skin
Skin infection
[ more ] 		0100658
Cutaneous melanoma 0012056
Lymphadenitis
Inflammation of the lymph nodes
0002840
Meningitis 0001287
Parotitis 0011850
Seizure 0001250
Sepsis
Infection in blood stream
0100806
Severe periodontitis 0000166
Vitiligo
Blotchy loss of skin color
0001045
Percent of people who have these symptoms is not available through HPO
Abnormal morphology of female internal genitalia 0000008
Abnormality of bone marrow cell morphology 0005561
Abnormality of female external genitalia
Abnormal female external genitalia
0000055
Autosomal dominant inheritance 0000006
Decreased circulating IgG level 0004315
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
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Last updated: 7/1/2020
Early diagnosis and aggressive medical management are very important for individuals with WHIM syndrome. Treatment of the condition currently includes G-CSF (a medication that stimulates the production of neutrophils); intravenous immunoglobulins (IVIG) for hypogammaglobulinemia; prophylactic antibiotics to prevent infection; and aggressive surveillance for, and treatment of, skin and mucosal HPV-related lesions. The dose of G-CSF should be determined for each individual, and adjustments may be needed periodically. IVIG has been shown to be effective at decreasing risk of infections, and it has also been reported that the hypogammaglobulinemia may improve following treatment with G-CSF. The use of prophylactic antibiotics in individuals affected with WHIM has not been specifically studied, but the benefits have been assumed based on studies on other types of immunodeficiency disorders. Infections should be diagnosed and treated as soon as possible.[3]

A new study sponsored by the National Institute of Allergy and Infectious Diseases (NIAID) found that a drug called plerixafor, already approved by the Food and Drug Administration for use in patients undergoing a bone marrow transplant, may also have promise for treating people who have WHIM syndrome. Plerixafor blocks the activity of CXCR4 (which is increased in affected individuals) and may become a targeted therapy for WHIM syndrome.  To read more about this ongoing study, click here.
Last updated: 11/14/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis of diseases with myelokathexis include autosomal dominant severe congenital neutropenia, autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, epidermodysplasia verruciformis, and monocytopenia with susceptibility to infections (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to WHIM syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
  • The National Institutes of Allergy and Infectious Diseases (NIAID) at the National Institutes of Health (NIH) is conducting a study titled "A Phase I Study of Mozobil in the Treatment of Patients with WHIMS" (Protocol no. 09-I-0200). To learn more about the study, you can contact the person listed below.

    Nana Kwatemaa, RN, MSN
    Telephone: 301-451-7820
    Fax: 301-451-5482
    E-mail: nkwatemaa@nih.gov

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss WHIM syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • Hagan JB, Nguyen PL. WHIM Syndrome. Mayo Clin Proc. September 2007;82(9):1031.
  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My two girls have WHIMS and I need to know what kind of treatment they can get. We're willing to travel to seek treatment. Their WBC counts are 100-300. One has warts on her foot and the other has about 100 warts on each hand. See answer


  1. DH McDermott, M.D., National Institutes of Allergy and Infectious Diseases, personal communication, August 2009 .
  2. George Diaz, Virginia Gulino. Whim syndrome. Orphanet Encyclopedia. June 2004; http://www.orpha.net/data/patho/GB/uk-Whim.pdf. Accessed 11/13/2011.
  3. Kawai, Toshinaoa; Malech, Harry L. WHIM syndrome: congenital immune deficiency disease. Current Opinion in Hematology. January 2009; 16(1):20-26.