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Inosine phosphorylase deficiency, immune defect due to

MedGen UID:
344562
•Concept ID:
C1855737
•
Disease or Syndrome
Synonym: Inosine Phosphorylase Deficiency, Immune Defect Due To
 
Monarch Initiative: MONDO:0009462
OMIM®: 243080

Clinical features

From HPO
Abnormality of the immune system
MedGen UID:
867388
•Concept ID:
C4021753
•
Pathologic Function
An abnormality of the immune system.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Inherited purine enzyme deficiencies: prenatal diagnosis and heterozygote detection.
de Bruyn CH
Clin Biochem 1983 Feb;16(1):38-42. doi: 10.1016/s0009-9120(83)94364-3. PMID: 6407779

Recent clinical studies

Etiology

Neurological involvement in patients with primary immunodeficiency.
Kose H, Karali Z, Bodur M, Cekic S, Kilic SS
Allergol Immunopathol (Madr) 2024;52(1):85-92. Epub 2024 Jan 1 doi: 10.15586/aei.v52i1.961. PMID: 38186198
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article
Primary immunodeficiency diseases associated with neurologic manifestations.
Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N
J Clin Immunol 2012 Feb;32(1):1-24. Epub 2011 Oct 26 doi: 10.1007/s10875-011-9593-8. PMID: 22038677
Therapy in adenosine deaminase and purine nucleoside phosphorylase deficient patients.
Zegers BJ, Stoop JW
Clin Biochem 1983 Feb;16(1):43-7. doi: 10.1016/s0009-9120(83)94381-3. PMID: 6407780

Diagnosis

Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Karaaslan BG, Turan I, Aydemir S, Meric ZA, Atay D, Akcay A, Sari AA, Hershfield M, Cipe F, Aksoy BA, Ersoy GZ, Bozkurt C, Demirkol YK, Ozturk G, Aydogmus C, Kiykim A, Cokugras H
J Clin Immunol 2023 Nov;43(8):2062-2075. Epub 2023 Sep 20 doi: 10.1007/s10875-023-01585-6. PMID: 37726596
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM
Curr Opin Allergy Clin Immunol 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. PMID: 24113229
Primary immunodeficiency diseases associated with neurologic manifestations.
Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N
J Clin Immunol 2012 Feb;32(1):1-24. Epub 2011 Oct 26 doi: 10.1007/s10875-011-9593-8. PMID: 22038677
Immunodeficiencies associated with errors in purine metabolism.
Edwards NL
Med Clin North Am 1985 May;69(3):505-18. doi: 10.1016/s0025-7125(16)31029-x. PMID: 3925260

Therapy

Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Karaaslan BG, Turan I, Aydemir S, Meric ZA, Atay D, Akcay A, Sari AA, Hershfield M, Cipe F, Aksoy BA, Ersoy GZ, Bozkurt C, Demirkol YK, Ozturk G, Aydogmus C, Kiykim A, Cokugras H
J Clin Immunol 2023 Nov;43(8):2062-2075. Epub 2023 Sep 20 doi: 10.1007/s10875-023-01585-6. PMID: 37726596
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM
Curr Opin Allergy Clin Immunol 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. PMID: 24113229
Therapy in adenosine deaminase and purine nucleoside phosphorylase deficient patients.
Zegers BJ, Stoop JW
Clin Biochem 1983 Feb;16(1):43-7. doi: 10.1016/s0009-9120(83)94381-3. PMID: 6407780
The role of de novo purine synthesis in lymphocyte transformation.
Allison AC, Hovi T, Watts RW, Webster AD
Ciba Found Symp 1977;(48):207-24. doi: 10.1002/9780470720301.ch13. PMID: 415850

Prognosis

Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.
Moallem HJ, Taningo G, Jiang CK, Hirschhorn R, Fikrig S
Clin Immunol 2002 Oct;105(1):75-80. doi: 10.1006/clim.2002.5264. PMID: 12483996
Deoxyadenosine triphosphate as a mediator of deoxyguanosine toxicity in cultured T lymphoblasts.
Mann GJ, Fox RM
J Clin Invest 1986 Nov;78(5):1261-9. doi: 10.1172/JCI112710. PMID: 3490493Free PMC Article
Decreased adenosine deaminase (ADA) and 5'nucleotidase (5NT) activity in peripheral blood T cells in Hodgkin disease.
Murray JL, Perez-Soler R, Bywaters D, Hersh EM
Am J Hematol 1986 Jan;21(1):57-66. doi: 10.1002/ajh.2830210108. PMID: 3010705
Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation.
Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, Knutsen AP, Hershfield MS, Huang AT, Mickey GH, Ward FE
J Immunol 1986 Apr 1;136(7):2398-407. PMID: 2869085
Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency.
Rich KC, Arnold WJ, Palella T, Fox IH
Am J Med 1979 Jul;67(1):172-6. doi: 10.1016/0002-9343(79)90100-1. PMID: 111549

Clinical prediction guides

Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free PMC Article
Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.
Grunebaum E, Campbell N, Leon-Ponte M, Xu X, Chapdelaine H
Front Immunol 2020;11:1257. Epub 2020 Jun 30 doi: 10.3389/fimmu.2020.01257. PMID: 32695102Free PMC Article
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM
Curr Opin Allergy Clin Immunol 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. PMID: 24113229
The role of de novo purine synthesis in lymphocyte transformation.
Allison AC, Hovi T, Watts RW, Webster AD
Ciba Found Symp 1977;(48):207-24. doi: 10.1002/9780470720301.ch13. PMID: 415850

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