Living with Reticular dysgenesis
A very severe inherited immune condition present from birth that leaves the body unable to fight infection, along with hearing loss.
Understanding Reticular dysgenesis
Babies with this condition lack both the quick-response and the long-term parts of the immune system. It also causes deafness in both ears (bilateral sensorineural deafness). Signs begin in the newborn and infant period. Without treatment, serious blood infection (septicemia) can develop within days after birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated lung and breathing infections
- Hearing loss
- Blood infection (sepsis)
- Diarrhea and trouble absorbing food
- Poor weight gain (failure to thrive)
- Absent or small thymus gland
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 AK2 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
Reticular dysgenesis is caused by changes in the AK2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ak2 deficiency; aleukocytosis; congenital aleukia; congenital aleukocytosis; de vaal disease; devaal disease
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 Reticular dysgenesis.
Explore research for Reticular dysgenesis
Explore actively recruiting Reticular dysgenesis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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