Living with Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
A rare inherited condition with slow growth before and after birth, low adrenal hormone, few natural killer cells and repeated viral infections.
Understanding Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
It involves slow growth before and after birth that leads to short stature and a small head. People have low levels of a stress hormone (glucocorticoid deficiency), too few natural killer cells, and repeated viral infections. GARD says people may also have a higher chance of cancer. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature and slow growth
- Small head size (microcephaly)
- Low adrenal hormone (adrenal insufficiency)
- Few natural killer cells
- Repeated viral infections
- Mild developmental delay
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 MCM4 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 MCM4 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: imd54; immunodeficiency 54; mini-chromosome maintenance 4; natural killer cell and glucocorticoid deficiency with dna repair defect; primary immunodeficiency due to mcm4 deficiency
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 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency.
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