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Severe combined immunodeficiency due to adenosine deaminase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Omenn syndrome
1 OMIM reference -
9 associated genes
28 signs/symptoms
Severe combined immunodeficiency due to adenosine deaminase deficiency
Omenn syndrome

ADA
(UniProt - OMIM)
 ADA
(UniProt - OMIM)
CHD7
(UniProt - OMIM)
DCLRE1C
(UniProt - OMIM)
IL2RG
(UniProt - OMIM)
IL7R
(UniProt - OMIM)
LIG4
(UniProt - OMIM)
RAG1
(UniProt - OMIM)
RAG2
(UniProt - OMIM)
RMRP
(OMIM)

COMMON
GENES 		ADA


Citations in the biomedical literature:


Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA
Omenn syndrome
CHD7 DCLRE1C IL2RG IL7R LIG4
RAG1 RAG2 RMRP



Severe combined immunodeficiency due to adenosine deaminase deficiency
Omenn syndrome

Synonym(s):
- ADA deficiency
- SCID due to adenosine deaminase deficiency
Synonym(s):
- Combined immunodeficiency with hypereosinophilia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C531816
External references:
1 OMIM reference -
No MeSH references
Omenn syndrome

Very frequent
- Alopecia
- Autosomal recessive inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphocytes anomalies
- Malabsorption / chronic diarrhea / steatorrhea
- Severe combined immune deficiency syndrome / SCID

Frequent
- Absent / decreased / thin eyebrows
- Cutaneous edema
- Dry / squaly skin / exfoliation
- Eosinophils anomalies / hypereosinophilia
- Fever / chilling
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Hyperleukocytosis / leukocytosis
- Pruritus / itching
- Splenomegaly
- Thick skin / pachydermia / orange skin

Occasional
- Anaemia
- Autoimmunity / autoimmune reaction / autoantibodies
- Dysplastic / thick / grooved fingernails
- Hypothyroidy
- Lymphoma
- Metaphyseal anomaly
- Nephrotic syndrome
- Sepsis severe / septicemia
- Thyroiditis


Severe combined immunodeficiency due to adenosine deaminase deficiency

(no data available)