Immunodeficiency 33 (IMD33)

Alias:
Imd33
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Ikbkg Deficiency
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Nemo Deficiency
Invasive Pneumococcal Disease, Recurrent Isolated, 2
X-Linked Msmd Due to Ikbkg Deficiency
X-Linked Msmd Due to Nemo Deficiency
Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly
X-Linked Disseminated Atypical Mycobacterial Infection Type 1
Invasive Pneumococcal Disease, Recurrent Isolated, Type 2
X-Linked Susceptibility to Mycobacterial Disease Type 1
Recurrent Isolated Invasive Pneumococcal Disease 2
Familial, X-Linked, Atypical Mycobacteriosis 1
Atypical Mycobacteriosis, Familial, X-Linked 1
X-Linked Immunodeficiency 33, Mycobacteriosis
Ipd2, Formerly
Amcbx1
Ipd2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 33, also known as imd33, is related to x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficie and glycogen storage disease iv. An important gene associated with Immunodeficiency 33 is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are IL-1 Family Signaling Pathways and VEGF Pathway (Qiagen). Affiliated tissues include b cells, and related phenotypes are immunodeficiency and recurrent bacterial infections
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Child
<1/1000000
12
62
15

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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