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Purine-nucleoside phosphorylase deficiency

MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
Synonyms: NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; PNP deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Purine-nucleoside phosphorylase deficiency (60743005); PNP deficiency (60743005); NP deficiency (60743005); Nucleoside phosphorylase deficiency (60743005); Purine nucleoside phosphorylase deficiency (60743005); PNP - Purine nucleoside phosphorylase deficiency (60743005); Deficiency of purine-nucleoside phosphorylase (60743005); NP - Nucleoside phosphorylase deficiency (60743005); Deficiency of inosine phosphorylase (60743005)
 
Gene (location): PNP (14q11.2)
OMIM®: 613179
Orphanet: ORPHA760

Definition

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992). [from OMIM]

Additional description

From GHR
Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. Infants with SCID typically grow much more slowly than healthy children and experience pneumonia, chronic diarrhea, and widespread skin rashes. Without successful treatment to restore immune function, children with SCID usually do not survive past early childhood.About two-thirds of individuals with purine nucleoside phosphorylase deficiency have neurological problems, which may include developmental delay, intellectual disability, difficulties with balance and coordination (ataxia), and muscle stiffness (spasticity). People with purine nucleoside phosphorylase deficiency are also at increased risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs.  https://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency

Clinical features

Autoimmune hemolytic anemia
MedGen UID:
1918
Concept ID:
C0002880
Disease or Syndrome
Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
Ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spastic diplegia
MedGen UID:
44181
Concept ID:
C0023882
Disease or Syndrome
A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hypouricemia
MedGen UID:
113163
Concept ID:
C0221333
Finding
An abnormally low level of uric acid in the blood.
Behavioral abnormality
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Cerebral vasculitis
MedGen UID:
68652
Concept ID:
C0238051
Disease or Syndrome
Inflammation of the blood vessels within the brain.
Autoimmune thrombocytopenia
MedGen UID:
116621
Concept ID:
C0242584
Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Recurrent UTI
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Tetraparesis
MedGen UID:
78731
Concept ID:
C0270790
Finding
Weakness of all four limbs.
Autoimmune neutropenia
MedGen UID:
137947
Concept ID:
C0340971
Disease or Syndrome
Autoimmune-induced neutropenia.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent opportunistic infections
MedGen UID:
330439
Concept ID:
C1832324
Finding
Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.
Recurrent viral infections
MedGen UID:
332357
Concept ID:
C1837066
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Abnormality of B cell physiology
MedGen UID:
341411
Concept ID:
C1849242
Finding
An abnormality of the physiological functioning of B cells.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Impaired T cell function
MedGen UID:
395415
Concept ID:
C1860127
Cell or Molecular Dysfunction
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Lymph node hypoplasia
MedGen UID:
892318
Concept ID:
C4025683
Finding
Underdevelopment of the lymph nodes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPurine-nucleoside phosphorylase deficiency
Follow this link to review classifications for Purine-nucleoside phosphorylase deficiency in Orphanet.

Recent clinical studies

Etiology

Martin J, Sharma R, Nelson RP, Schubert F, Weida J
Fetal Pediatr Pathol 2016;35(2):120-3. Epub 2016 Feb 16 doi: 10.3109/15513815.2016.1139020. PMID: 26882246
Parvaneh N, Ashrafi MR, Yeganeh M, Pouladi N, Sayarifar F, Parvaneh L
Brain Dev 2007 Mar;29(2):124-6. Epub 2006 Sep 1 doi: 10.1016/j.braindev.2006.07.008. PMID: 16949240
Broome CB, Graham ML, Saulsbury FT, Hershfield MS, Buckley RH
J Pediatr 1996 Mar;128(3):373-6. PMID: 8774508
Kishi T, Sakura N, Ito K, Usui T
Acta Paediatr Jpn 1987 Feb;29(1):152-4. PMID: 3144840
Osborne WR, Scott CR
Biochem J 1983 Sep 15;214(3):711-8. PMID: 6312962Free PMC Article

Diagnosis

Martin J, Sharma R, Nelson RP, Schubert F, Weida J
Fetal Pediatr Pathol 2016;35(2):120-3. Epub 2016 Feb 16 doi: 10.3109/15513815.2016.1139020. PMID: 26882246
la Marca G, Giocaliere E, Malvagia S, Villanelli F, Funghini S, Ombrone D, Della Bona M, Forni G, Canessa C, Ricci S, Romano F, Guerrini R, Resti M, Azzari C
Clin Chem Lab Med 2016 Apr;54(4):627-32. doi: 10.1515/cclm-2015-0436. PMID: 26466166
Somech R, Lev A, Grisaru-Soen G, Shiran SI, Simon AJ, Grunebaum E
Immunol Res 2013 May;56(1):150-4. doi: 10.1007/s12026-012-8380-9. PMID: 23371835
Madkaikar MR, Kulkarni S, Utage P, Fairbanks L, Ghosh K, Marinaki A, Desai M
BMJ Case Rep 2011 Dec 8;2011 doi: 10.1136/bcr.09.2011.4804. PMID: 22669887Free PMC Article
Aytekin C, Dogu F, Tanir G, Guloglu D, Santisteban I, Hershfield MS, Ikinciogullari A
Eur J Pediatr 2010 Mar;169(3):311-4. Epub 2009 Aug 6 doi: 10.1007/s00431-009-1029-6. PMID: 19657670

Therapy

Aytekin C, Yuksek M, Dogu F, Yagmurlu A, Yildiran A, Fitoz S, Kologlu M, Babacan E, Hershfield MS, Ikinciogullari A
Pediatr Transplant 2008 Jun;12(4):479-82. Epub 2008 Jan 14 doi: 10.1111/j.1399-3046.2007.00890.x. PMID: 18208442
Carpenter PA, Ziegler JB, Vowels MR
Bone Marrow Transplant 1996 Jan;17(1):121-4. PMID: 8673045
Stoop JW, Zegers BJ, Spaapen LJ, Kuis W, Roord JJ, Rijkers GT, Staal GE, Rijksen G, Duran M, Wadman SK
Adv Exp Med Biol 1984;165 Pt A:61-6. PMID: 6426260
Reiter S, Simmonds HA, Webster DR, Watson AR
Biochem Pharmacol 1983 Jul 15;32(14):2167-74. PMID: 6409116
van Gennip AH, Grift J, de Bree PK, Zegers BJ, Stoop JW, Wadman SK
Clin Chim Acta 1979 May 2;93(3):419-28. PMID: 109238

Prognosis

Aytekin C, Dogu F, Tanir G, Guloglu D, Santisteban I, Hershfield MS, Ikinciogullari A
Eur J Pediatr 2010 Mar;169(3):311-4. Epub 2009 Aug 6 doi: 10.1007/s00431-009-1029-6. PMID: 19657670
Aytekin C, Yuksek M, Dogu F, Yagmurlu A, Yildiran A, Fitoz S, Kologlu M, Babacan E, Hershfield MS, Ikinciogullari A
Pediatr Transplant 2008 Jun;12(4):479-82. Epub 2008 Jan 14 doi: 10.1111/j.1399-3046.2007.00890.x. PMID: 18208442
Moallem HJ, Taningo G, Jiang CK, Hirschhorn R, Fikrig S
Clin Immunol 2002 Oct;105(1):75-80. PMID: 12483996
Broome CB, Graham ML, Saulsbury FT, Hershfield MS, Buckley RH
J Pediatr 1996 Mar;128(3):373-6. PMID: 8774508
Rich KC, Arnold WJ, Palella T, Fox IH
Am J Med 1979 Jul;67(1):172-6. PMID: 111549

Clinical prediction guides

van Kuilenburg AB, Zoetekouw L, Meijer J, Kuijpers TW
Nucleosides Nucleotides Nucleic Acids 2010 Jun;29(4-6):466-70. doi: 10.1080/15257771003741455. PMID: 20544539
Liao P, Toro A, Min W, Lee S, Roifman CM, Grunebaum E
J Gene Med 2008 Dec;10(12):1282-93. doi: 10.1002/jgm.1261. PMID: 18924118
Kleijer WJ, Hussaarts-Odijk LM, Los FJ, Pijpers L, De Bree PK, Duran M
Prenat Diagn 1989 Jun;9(6):401-7. PMID: 2503819
Fox IH, Kaminska J, Edwards NL, Gelfand E, Rich KC, Arnold WN
Biochem Genet 1980 Apr;18(3-4):221-34. PMID: 6160848
Simmonds HA, Potter CF, Sahota A, Cameron JS, Webster DR, Becroft DM
Clin Exp Immunol 1978 Oct;34(1):42-5. PMID: 108039Free PMC Article

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