Lymphoproliferative Syndrome 2 (LPFS2)

Alias:
Cd27 Deficiency
Lpfs2
Autosomal Recessive Lymphoproliferative Disease Due to Cd27 Deficiency
Combined Immunodeficiency Due to Cd27 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lymphoproliferative Syndrome 2, also known as cd27 deficiency, is related to lymphoproliferative syndrome, x-linked, 2 and agammaglobulinemia, and has symptoms including fever An important gene associated with Lymphoproliferative Syndrome 2 is CD27 (CD27 Molecule), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Miscellaneous transport and binding events. Affiliated tissues include bone marrow and bone, and related phenotypes are ascites and splenomegaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
25
212
4

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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