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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Congenital pulmonary alveolar proteinosis
Severe combined immunodeficiency due to LCK deficiency

ABCA3 LCK
CSF2RA
CSF2RB
SFTPB
SFTPC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CSF2RB
(0.62)
LCK



Citations in the biomedical literature:


Congenital pulmonary alveolar proteinosis
ABCA3 CSF2RA CSF2RB SFTPB SFTPC
Severe combined immunodeficiency due to LCK deficiency
LCK



Congenital pulmonary alveolar proteinosis
Severe combined immunodeficiency due to LCK deficiency

Synonym(s):
- Congenital PAP

Synonym(s):
- SCID due to LCK deficiency
- SCID due to lymphocyte-specific protein tyrosine kinase deficiency
- Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the respiratory system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.