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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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
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: PNP
Cytogenetic location: 14q11.2
OMIM: 613179

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.  http://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency

Clinical features

Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the `paranasal sinuses` (FMA:59679) owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
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).
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
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:
504775
Concept ID:
CN001158
Finding
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills.
Tetraparesis
MedGen UID:
505179
Concept ID:
CN002063
Finding
Weakness of all four limbs.
Cerebral vasculitis
MedGen UID:
505795
Concept ID:
CN004719
Finding
Inflammation of the blood vessels within the brain.
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the `paranasal sinuses` (FMA:59679) owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Cerebral vasculitis
MedGen UID:
505795
Concept ID:
CN004719
Finding
Inflammation of the blood vessels within the brain.
Autoimmune hemolytic anemia
MedGen UID:
504990
Concept ID:
CN001709
Finding
An autoimmune form of `hemolytic anemia` (HP:0001878).
Autoimmune neutropenia
MedGen UID:
504998
Concept ID:
CN001722
Finding
Autoimmune-induced `neutropenia` (HP:0001875).
Autoimmune thrombocytopenia
MedGen UID:
500917
Concept ID:
CN001785
Finding
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Hypouricemia
MedGen UID:
505553
Concept ID:
CN003192
Finding
An abnormally low level of uric acid in the blood.
Pneumonia
MedGen UID:
505095
Concept ID:
CN001891
Finding
Inflammation of any part of the lung parenchyma.
Recurrent lower respiratory tract infections
MedGen UID:
425110
Concept ID:
CN002518
Finding
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
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).
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.
Autoimmune hemolytic anemia
MedGen UID:
504990
Concept ID:
CN001709
Finding
An autoimmune form of `hemolytic anemia` (HP:0001878).
Autoimmune neutropenia
MedGen UID:
504998
Concept ID:
CN001722
Finding
Autoimmune-induced `neutropenia` (HP:0001875).
Autoimmune thrombocytopenia
MedGen UID:
500917
Concept ID:
CN001785
Finding
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Recurrent lower respiratory tract infections
MedGen UID:
425110
Concept ID:
CN002518
Finding
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
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).
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGPurine-nucleoside phosphorylase deficiency

Recent clinical studies

Etiology

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. [Epub ahead of print] 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
McGinniss MH, Wasniowska K, Zopf DA, Straus SE, Reichert CM
Transfusion 1985 Mar-Apr;25(2):131-6. PMID: 2580378
Osborne WR, Scott CR
Biochem J 1983 Sep 15;214(3):711-8. PMID: 6312962Free PMC Article

Diagnosis

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 18208442
Tam DA Jr, Leshner RT
Pediatr Neurol 1995 Feb;12(2):146-8. PMID: 7779212

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. [Epub ahead of print] 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
Staal GE, Stoop JW, Zegers BJ, van der Vlist MJ, de Bruyn CH, Wadman SK
Monogr Hum Genet 1978;10:104-7. PMID: 102921

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. [Epub ahead of print] 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. [Epub ahead of print] 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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