Symbol
Name
ID

Pnp
purine-nucleoside phosphorylase
MGI:97365

Phenotype annotations related to immune system

Darker colors indicate more annotations

Human Phenotypes

Decreased lymphocyte proliferation in response to mitogen

Abnormality of B cell physiology

Impaired T cell function

Autoimmune hemolytic anemia

Neutropenia in presence of anti-neutropil antibodies

Decreased proportion of CD3-positive T cells

Lymphopenia

Abnormal T cell morphology

Autoimmune thrombocytopenia

Sinusitis

Recurrent upper respiratory tract infections

Lymph node hypoplasia

Splenomegaly

Otitis media

Recurrent urinary tract infections

Pneumonia

Autoimmunity

Systemic lupus erythematosus

Severe combined immunodeficiency

Humoral immunodeficiency

Recurrent opportunistic infections

Recurrent infections

Recurrent bacterial infections

Recurrent respiratory infections

Recurrent lower respiratory tract infections

Recurrent viral infections

Disease(s) Associated with PNP

purine nucleoside phosphorylase deficiency

Mouse Phenotypes

increased thymocyte apoptosis

decreased B cell proliferation

thymus hypoplasia

increased double-negative T cell number

decreased double-positive T cell number

abnormal myelopoiesis

abnormal leukocyte cell number

decreased B-1a cell number

decreased B-2 B cell number

decreased marginal zone B cell number

increased B-1b cell number

increased pre-B cell number

increased central memory CD4-positive, alpha-beta T cell number

increased effector memory CD4-positive, alpha-beta T cell number

increased T follicular helper cell number

decreased CD4-positive, alpha-beta T cell number

increased central memory CD8 positive, alpha-beta T cell number

increased effector memory CD8-positive, alpha-beta T cell number

increased CD8-positive, alpha-beta memory T cell number

decreased CD8-positive, naive alpha-beta T cell number

decreased CD8-positive, alpha-beta T cell number

decreased T cell number

decreased single-positive T cell number

abnormal leukocyte physiology

increased IgM level

decreased cytotoxic T cell cytolysis

impaired humoral immune response

Availability

Mouse Genotype

Pnp^bata/Pnp^bata

Pnp^e/Pnp^e

Pnp^f/Pnp^f

Pnp^g/Pnp^g

Pnp^M1Btlr/Pnp^M1Btlr

Pnp^m2Btlr/Pnp^m2Btlr

Pnp^tm1Cmr/Pnp^tm1Cmr

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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