Living with Monocytopenia with susceptibility to infections
A rare inherited immune condition with very low monocytes and a higher risk of serious infections and blood disorders.
Understanding Monocytopenia with susceptibility to infections
People have very low monocytes, fewer B cells and NK cells, and fewer dendritic cells, all of which are immune system cells. This can lead to widespread infections with mycobacteria and viruses, as well as fungal and parasitic infections. Lung problems called pulmonary alveolar proteinosis are frequent. There is a higher chance of developing certain bone marrow cancers (myeloid neoplasms). It usually starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Frequent or hard-to-clear infections
- Fever and fatigue
- Low platelet count and easy bruising
- Bone marrow failure
- Enlarged spleen or liver
- Pale skin (pallor)
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 and genetic specialists.
- 3Consider genetic testing
Changes in GATA2 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)
- 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 Blood Cancer United 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
This condition is caused by changes in the GATA2 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections; dendritic cell, monocyte, b and nk lymphoid deficiency; dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency; immunodeficiency 21
Patient organizations
- Blood Cancer UnitedMonocytopenia with susceptibility to infections · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Monocytopenia with susceptibility to infections.
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