Living with Combined immunodeficiency due to moesin deficiency
A rare inherited immune condition starting in childhood with repeated bacterial and chickenpox-virus infections.
Understanding Combined immunodeficiency due to moesin deficiency
It begins in childhood with repeated bacterial infections and infections from the varicella zoster virus. Eczema and a skin infection called molluscum have also been reported. Lab tests show very low lymphocytes, low antibodies, a poor response to vaccines, and neutrophil counts that rise and fall.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these:
- Repeated bacterial infections
- Varicella zoster virus infections
- Eczema
- Repeated molluscum skin infections
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 MSN 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 Immune Deficiency Foundation
- 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
Changes in the MSN gene are listed. It is X-linked, which means the gene is on the X chromosome.
Also known as: cid due to moesin deficiency; imd50; immunodeficiency 50; immunodeficiency 50, x-linked recessive; immunodeficiency type 50; msn (moesin) related combined immunodeficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined immunodeficiency due to moesin deficiency.
Explore research for Combined immunodeficiency due to moesin deficiency
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