DADA2 Foundation
Cycle 1
DADA2—deficiency of the enzyme ADA2 (Adenosine Deaminase 2)—is a recently discovered and extremely rare genetic disease that usually starts in childhood. It can cause recurrent strokes, severe systemic inflammation, immune deficiency, and damage to many of the body's tissues and organs.
Last updated May 2024
Clinical
Disease Class
Rare Autoinflammatory Disease
Rare genetic diseases
Rare hematological diseases
Rare neurological diseases
Rare skin diseases
Rare systemic and rheumatological diseases
Rare systemic and rheumatological diseases of childhood
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Bile ducts
Bladder
Blood
Blood vessels (veins, arteries)
Bone marrow
Bones
Brain
Connective tissue / joints
Ductus deferens
Ears
Esophagus
Eyes
Gallbladder
Heart
Intestines
Kidneys
Liver
Lungs
Lymph fluid, nodes, ducts, vessels
Mouth / teeth
Muscles
Nose
Pancreas
Scrotum
Skin
Spinal cord
Spleen
Stomach
Testes
Throat
Tonsils
Genes
ADA2 (CECR1)
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Autoimmune
Autoinflammatory disorder
Enzyme deficiency
Immune deficiencies
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Incidence
Less than 10
Prevalence
1001-10000
Populations and/or ancestry with higher prevalence
Aggregate 1/222K Finnish 1/103K South Asian 1/161K Non-Finnish European 1/203K Latino 1/206K African 1/828K East Asian 1/1.34M Ashkenazi Jewish 1/107M
Symptoms / Phenotypes
abnormal systemic arterial morphology
anemia
aneurysm
blood disorders
bone marrow failure / bone marrow hypocellularity
cancer, lymphoma
cardiac abnormalities
colitis
conjunctivitis
cranial nerve palsy
diarrhea
digital ulcerations
failure to thrive
fatigue
fever
gait abnormalities / gait disturbance
gastrointestinal disorders
headaches / migraines
hearing loss / hearing impairment
hemorrhage/bleeding
hypertension
immune deficiency / immunodeficiency
infection, unspecified location
inflammation
joint pain / arthralgia
kidney disease / nephropathy
malaise
miscarriage
muscle weakness
myalgia / muscle pain
myelofibrosis
myositis
neuroinflammation
neutropenia
oral sore / ulcer
pain, abdominal
peripheral neuropathy
pulmonary hemorrhage
Raynaud's phenomenon
seizures / epilepsy
skin necrosis
skin redness and/or swelling
stroke
subcutaneous nodules
testicular infarction
thrombocytopenia
transaminitis / elevated hepatic transaminase
unusual skin infection
vasculitis
vertigo
vision problems
weight loss
Biomarkers
Therapeutic
· Possible ADA2 enzyme levels
Existing Therapies
Drugs used off-label
· TNFi
Organizational & Research
Cell Lines
CD34 cells
iPSCs
Cell Lines, location
Not specified
Cell Lines, share
Yes
Disease Model
Zebrafish
Disease Model, location
None
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
Boston Children's Hospital
NIH
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
Yes
Organizational Roles
No full-time staff
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None