Overview
Reticular dysgenesis (also sometimes called aleukocytosis) is an extremely rare and very severe form of a condition called severe combined immunodeficiency, or SCID. It is one of the most serious immune system disorders known. In reticular dysgenesis, the body cannot make two critical types of blood cells: white blood cells (which fight infections) and certain cells called granulocytes (a type of white blood cell that is the first line of defense against bacteria and fungi). The bone marrow, which is the factory inside your bones that makes blood cells, fails to produce these protective cells properly. This means babies born with this condition have almost no ability to fight off infections of any kind. Babies with reticular dysgenesis are typically very sick from birth or within the first days of life. They get severe, life-threatening infections very quickly because their immune system simply cannot protect them. Without treatment, this condition is almost always fatal in the first weeks or months of life. Common problems include repeated serious bacterial and fungal infections, failure to gain weight, and a very low count of infection-fighting cells in the blood. The only known cure for reticular dysgenesis is a bone marrow transplant (also called a hematopoietic stem cell transplant). When done early and successfully, this treatment can restore the immune system and give children a chance at a normal life. Until a transplant can happen, babies are kept in very protective environments and given antibiotics and antifungal medicines to prevent infections. Early diagnosis through newborn screening programs is critically important for survival.
Also known as:
Key symptoms:
Severe, life-threatening infections starting very early in lifeAlmost no white blood cells (especially granulocytes) in the bloodVery low or absent lymphocytes (another type of immune cell)Failure to thrive or poor weight gainRecurring bacterial infectionsRecurring fungal infectionsFever that does not go awaySwollen lymph nodes that are absent or very smallHearing loss (in some cases linked to the AK2 gene mutation)Extreme vulnerability to any germ or pathogen
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Reticular dysgenesis.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Reticular dysgenesis.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Is my child a candidate for a bone marrow transplant, and how soon should it happen?,How do we find the best matched donor for my child?,What infections should we be most worried about, and how do we prevent them?,Should other family members be tested to see if they are carriers of the AK2 gene mutation?,What are the risks and expected outcomes of the bone marrow transplant for my child?,Is my child eligible for any clinical trials or gene therapy studies?,What newborn screening programs exist in our area, and should future pregnancies be tested early?
Common questions about Reticular dysgenesis
What is Reticular dysgenesis?
Reticular dysgenesis (also sometimes called aleukocytosis) is an extremely rare and very severe form of a condition called severe combined immunodeficiency, or SCID. It is one of the most serious immune system disorders known. In reticular dysgenesis, the body cannot make two critical types of blood cells: white blood cells (which fight infections) and certain cells called granulocytes (a type of white blood cell that is the first line of defense against bacteria and fungi). The bone marrow, which is the factory inside your bones that makes blood cells, fails to produce these protective cells
How is Reticular dysgenesis inherited?
Reticular dysgenesis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Reticular dysgenesis typically begin?
Typical onset of Reticular dysgenesis is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Reticular dysgenesis?
2 specialists and care centers treating Reticular dysgenesis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.