Information on Immunodeficiency due to Purine nucleoside phosphorylase deficiency

Basic details

Name: Immunodeficiency due to Purine nucleoside phosphorylase deficiency | Acronym:
Alt. names:

Gene: PNP | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1987

Last updated on: 2023-02-28 16:41:18 by

OMIM: 613179

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Surveillance for malignancy (eg, lymphoma has been described) can be beneficial; BMT/HSCT has been reported. Refs. PMIDs: 5579411; 825775; 102751; 111549; 6774252; 3029074; 1931007; 1384322; 8774508; 8931706; 9067751; 9737781; 11498751; 11453975; 11902746; 17910661; 18208442; 19584574; 19733163; 19657670; 20544539; 22132981

Management

Description of management option has not been reviewed yet.

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0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Ataxiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
2 Decreased lymphocyte proliferation in response to mitogensarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Decreased urinary uratearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Delayed gross motor developmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 Elevated urinary guanosine levelarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 Elevated urinary inosine levelarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Hypouricemiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Infantile onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Lymphopeniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Pure red cell aplasiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

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