Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency malady

MalaCards: Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency, also known as immunologic deficiency syndromes, is related to alopecia immunodeficiency and immunodeficiency, common variable, 5. An important gene associated with Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency is PNP (purine nucleoside phosphorylase). The drugs varicella zoster immune globulin (human) and venoglobulin-i have been mentioned in the context of this disorder.

OMIM: 613179

immunodeficiency due to purine nucleoside phosphorylase deficiency 33 immunologic deficiency syndromes 43

Diseases related to immunodeficiency due to purine nucleoside phosphorylase deficiency by text searches and GeneDecks gene sharing:

(show all 22)

id	Related Disease	Score	Top Affiliating Genes
1	alopecia immunodeficiency	6.0
2	immunodeficiency, common variable, 5	6.0
3	cd40 deficiency	6.0
4	immunodeficiency, common variable, 6	6.0
5	cd40 ligand deficiency	6.0
6	nijmegen breakage syndrome	6.0
7	common variable immunodeficiency	6.0
8	primary immunodeficiency disease	6.0
9	immunodeficiency due to defect in cd3-epsilon	6.0
10	severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive	6.0
11	immunodeficiency due to defect in cd3-gamma	6.0
12	immunodeficiency with hyper igm	6.0
13	immunodeficiency	6.0
14	immunodeficiency, centromere instability and facial anomalies syndrome	6.0
15	immunodeficiency with hyper igm type 1	6.0
16	immunodeficiency with hyper igm type 2	6.0
17	immunodeficiency with hyper igm type 4	6.0
18	immunodeficiency with hyper igm type 5	6.0
19	immunodeficiency without anhidrotic ectodermal dysplasia	6.0
20	immunodeficiency due to defect in mapbp-interacting protein	6.0
21	albinism immunodeficiency	6.0
22	immunodeficiency due to defect in cd3-zeta	6.0

Clinical features from OMIM: 613179

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 cytomegalovirus immune globulin, globulin,immune, globulin,immune (im), varicella zoster immune globulin, varicella zoster immune globulin (human), venoglobulin-i

Genes related to immunodeficiency due to purine nucleoside phosphorylase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PNP	purine nucleoside phosphorylase	11.1	Disorders