Living with Histiocytic medullary reticulosis
An inherited immune system condition, also called Omenn syndrome, with repeated infections, skin changes, and enlarged organs in infants.
Understanding Histiocytic medullary reticulosis
It is one form of severe combined immunodeficiency (SCID), where the body has almost no protection from bacteria, viruses, and fungi. Infants often have pneumonia and chronic diarrhea. The immune system also attacks the body's own tissues, causing very red skin, hair loss, and an enlarged liver and spleen. Lymph nodes and the thymus gland may also be enlarged.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated or serious infections
- Pneumonia
- Chronic diarrhea
- Very red skin (erythroderma)
- Hair loss and missing eyebrows
- Enlarged liver and spleen
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 Jeffrey Modell 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: combined immunodeficiency with hypereosinophilia; omenn syndrome; severe combined immunodeficiency with hypereosinophilia
Patient organizations
- Jeffrey Modell FoundationHistiocytic medullary reticulosis · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
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