Living with WHIM syndrome 1
A rare immune condition with warts, low antibodies, repeated infections, and trapped white blood cells in the bone marrow.
Understanding WHIM syndrome 1
Myelokathexis means white blood cells called neutrophils are held back in the bone marrow. Symptoms usually begin in early childhood with repeated bacterial infections such as respiratory infections and cellulitis (a skin infection).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bacterial infections
- Repeated colds and respiratory infections
- Pneumonia
- Warts
- Low neutrophil count
- Low lymphocyte count
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CXCR4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
WHIM syndrome 1 is caused by changes in the CXCR4 gene. It is inherited in an autosomal dominant way, meaning a changed copy from one parent can be enough.
Also known as: myelokathexis, isolated; warts-hypogammaglobulinemia-infections-myelokathexis syndrome; warts-infections-leukopenia-myelokatexis syndrome; warts, hypogammaglobulinemia, infections, and myelokathexis; warts, hypogammaglobulinemia, infections, and myelokathexis syndrome; whim syndrome
Patient organizations
- Immune Deficiency FoundationWHIM syndrome 1 · United States
- Jeffrey Modell FoundationWHIM syndrome 1 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with WHIM syndrome 1.
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