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Disease Profile
WHIM syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
D81.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis; WHIMS
Categories
Congenital and Genetic Diseases; Immune System Diseases
Summary
WHIM
Symptoms
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.
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 |
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 |
0030079 | |
Limb |
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 |
0012056 | |
Lymphadenitis |
Inflammation of the lymph nodes
|
0002840 |
0001287 | ||
Parotitis | 0011850 | |
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 |
0005561 | |
Abnormality of female external genitalia |
Abnormal female external genitalia
|
0000055 |
0000006 | ||
Decreased circulating IgG level | 0004315 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Treatment
A new study sponsored by the National Institute of Allergy and
Related diseases
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.
|
Organizations
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
-
Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
Winnepeg, MB
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
E-mail: https://www.cipo.ca/#contact
Website: https://cipo.ca -
Immune Deficiencies Foundation Australia
PO Box 969
Penrith NSW 2751
Australia
Telephone: 800-100-198
E-mail: [email protected]
Website: https://www.idfa.org.au/ -
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Rock Bottom, Trerieve
Downderry
PL11 3LY
United Kingdom
Telephone: 44-01503-250-668/961
E-mail: [email protected]
Website: https://ipopi.org -
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: [email protected]
Website: https://www.info4pi.org/
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
Social Networking Websites
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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).
Organizations Providing General Support
-
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/
Learn more
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.
References
- DH McDermott, M.D., National Institutes of Allergy and Infectious Diseases, personal communication, August 2009 .
- George Diaz, Virginia Gulino. Whim syndrome. Orphanet Encyclopedia. June 2004; https://www.orpha.net/data/patho/GB/uk-Whim.pdf. Accessed 11/13/2011.
- Kawai, Toshinaoa; Malech, Harry L. WHIM syndrome: congenital immune deficiency disease. Current Opinion in Hematology. January 2009; 16(1):20-26.
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