Living with Immunodeficiency 23
An inherited condition that mainly affects the immune system, causing repeated infections and sometimes other body changes.
Understanding Immunodeficiency 23
Most people have impaired immune function and often have repeated infections in the lungs, ears, skin, or digestive tract. Many also have allergies, asthma, or eczema. Some have intellectual disability, delayed development, low muscle tone, or bone differences. It begins from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections
- Eczema and atopic dermatitis
- Low white blood cell counts
- Long-lasting middle ear infections
- Poor balance and coordination (ataxia)
- Poor weight gain (failure to thrive)
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PGM3 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
CDG CARE and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE, 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 CDG CARE 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 the PGM3 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cid due to pgm3 deficiency; combined immunodeficiency due to pgm3 (phosphoglucomutase 3) deficiency; combined immunodeficiency due to pgm3 deficiency; combined inflammatory and immunologic defect; imd23; immunodeficiency type 23
Patient organizations
- CDG CAREImmunodeficiency 23 · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Immunodeficiency 23.
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