Immunodeficiency with Hyper-Igm, Type 2 (HIGM2)

Alias:
Hyper-Igm Syndrome Type 2
Higm2
Activation-Induced Cytidine Deaminase Deficiency
Aid Deficiency
Immunodeficiency with Hyper-Igm Type 2
Hyper-Igm Syndrome 2
Hyper-Igm Immunodeficiency Syndrome, Type 2
Immunodeficiency, with Hyper Igm, Type 2
Immunodeficiency with Hyper-Igm 2
Hyper-Igm Immunodeficiency Type 2
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency with Hyper-Igm, Type 2, also known as hyper-igm syndrome type 2, is related to immunodeficiency with hyper-igm, type 5 and dysgammaglobulinemia. An important gene associated with Immunodeficiency with Hyper-Igm, Type 2 is AICDA (Activation Induced Cytidine Deaminase), and among its related pathways/superpathways are Cytokine Signaling in Immune system and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include lymph node and b cells, and related phenotypes are recurrent respiratory infections and decreased circulating iga level
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
18
166
26

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