Immunodeficiency 41 with Lymphoproliferation and Autoimmunity (IMD41)

Alias:
Immunodeficiency Due to Cd25 Deficiency
Interleukin 2 Receptor, Alpha, Deficiency of
Il2ra Deficiency
Cd25 Deficiency
Imd41
Interleukin-2 Receptor Alpha Chain Deficiency
Immunodeficiency 41
Immunodeficiency, Type 41 with Lymphoproliferation and Autoimmunity
Interleukin-2 Receptor, Alpha Chain, Deficiency of
Interleukin 2 Receptor Alpha Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 41 with Lymphoproliferation and Autoimmunity, also known as immunodeficiency due to cd25 deficiency, is related to polyendocrinopathy and dermatitis. An important gene associated with Immunodeficiency 41 with Lymphoproliferation and Autoimmunity is IL2RA (Interleukin 2 Receptor Subunit Alpha), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include t cells and skin, and related phenotypes are hypothyroidism and recurrent respiratory infections
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
20
317
6

Medical Symptom

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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

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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
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IF
No Data Found!
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