Details of Disease

General Information of Disease (ID: DISFWBT9)

Disease Name Immunodeficiency 96
Synonyms IMD96; immunodeficiency 96; immunodeficiency, autosomal recessive due to LIG1 deficiency
Definition
An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.
Disease Hierarchy
DIS093I0: Immunodeficiency
DISFWBT9: Immunodeficiency 96
Disease Identifiers
MONDO ID
MONDO_0030693
UMLS CUI
C5676930
OMIM ID
619774
MedGen ID
1810465

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LIG1 OTEEQS43 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet. 1992 Jun 20;339(8808):1508-9. doi: 10.1016/0140-6736(92)91266-b.