Immunodeficiency 104 (IMD104)

Alias:
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Imd104
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, Nk Cell Positive
Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Positive
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Positive
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Autosomal Recessive T Cell-Negative, B-Cell Positive, Nk Cell-Positive Scid
T-B+ Severe Combined Immunodeficiency Due to Il-7ralpha Deficiency
T-B+ Severe Combined Immunodeficiency Due to Cd45 Deficiency
Immunodeficiency, Type 104, Severe Combined
Immunodeficiency 104, Susceptibility to
T-B+ Scid Due to Il-7ralpha Deficiency
Immunodeficiency 104, Severe Combined
T-B+ Scid Due to Cd45 Deficiency
Scidbnk
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 104, also known as severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, is related to immunodeficiency 105 and t cell deficiency. An important gene associated with Immunodeficiency 104 is IL7R (Interleukin 7 Receptor), and among its related pathways/superpathways are Overview of interferons-mediated signaling pathway and Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include t cells and nk cells, and related phenotypes are recurrent infections and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/1000000
2
42
29

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top