Familial Spastic Paraplegia as the Presenting Manifestation in Patients With Purine Nucleoside Phosphorylase Deficiency

Tabarki, Brahim; Yacoub, M.; Tlili, Kalthoum; Trabelsi, A.; Dogui, Mohamed; Essoussi, A. S.

doi:10.1177/08830738030180021001

Cited by 17 publications

(12 citation statements)

References 12 publications

(38 reference statements)

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“…In literature, homozygous p.A117T mutation was previously reported in a Tunisian girl and her sister who suffered from progressive spastic paraplegia. In these cases, recurrent respiratory infections become apparent after three yr of age . The same mutation was also reported in a Turkish girl who suffered from mental‐motor retardation, recurrent respiratory tract infections, and failure to thrive.…”

Section: Discussionsupporting

confidence: 58%

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A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside phosphorylase deficiency

Çelmeli

Türkkahraman

Uygun

et al. 2014

Pediatric Transplantation

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PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of inheritance. The immunodeficiency is progressive with normal immune functions at birth, but then, T-cell deficiency with variable B-cell functions usually presents by the age of two yr. The only curative treatment for PNP deficiency is hematopoietic stem cell transplantation. Here, we present a 13-yr-old girl with late-onset PNP deficiency. Despite many complications of infections, she was successfully transplanted with a reduced intensity-conditioning regimen from an HLA-identical unrelated donor.

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Section: Discussionsupporting

confidence: 58%

“…Genetic analysis revealed homozygous missense mutation (p. A117T), which causes a c.349G>A amino acid substitution in PNP gene in exon 4, which has previously been reported . Additionally, a homozygous G/A polymorphic site in IVS3 has also been detected, c.285 + 10G (IVS3 + 10G).…”

Section: Case Reportmentioning

confidence: 53%

A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside phosphorylase deficiency

Çelmeli

Türkkahraman

Uygun

et al. 2014

Pediatric Transplantation

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“…This is the first Turkish purine nucleosidase phosphorylase deficient case and the second case recorded worldwide having the mutation of Ala117Thr. There might be an ancestral link with the case by Tabarki et al 8 In conclusion, purine nucleosidase phosphorylase deficiency shows a wide variety of neurological and immunological symptoms. The patients who have the mutation Ala117Thr in the purine nucleosidase phosphorylase gene can show different phenotypes.…”

Section: Discussionmentioning

confidence: 91%

Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections

et al. 2007

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Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disease. The characteristic features of the disease include severe T cell immune defects with recurrent infections, a failure to thrive, and progressive neurological findings. To date, 35 cases of purine nucleosidase phosphorylase deficiency have been reported worldwide. A 2-year-old female patient was hospitalized due to recurrent infections starting from 6 months and a fever that had continued for a month. The parents were first cousins. Physical examination showed a failure to thrive, herpetic lesions around the lips, painful lesions on the tongue and the buccal mucosa, lung infection, and spastic paraparesis in the lower extremities. She had motor and mental retardation. Laboratory tests revealed lymphopenia; low CD3, CD4, and CD8 counts; normal immunoglobulin levels; low uric acid; and very low purine nucleoside phosphorylase enzyme activity (1.4 nmol/h/mg; normal range, 490-1530). DNA sequencing of the purine nucleosidase phosphorylase gene revealed a missense homozygous mutation, a G to A transition at exon 4 position 64 (349G>A transition), which led to a substitution of alanine by threonine at codon 117 (Ala117Thr). Both parents were heterozygous for the mutation. This is the second purine nucleosidase phosphorylase deficient case to have been presented and carrying this mutation worldwide. Various antibiotics, antifungal drugs, and intravenous immunoglobulin were used to treat the infections during her 3 months. This form of treatment proved to be unresponsive, resulting in her subsequent death at 26 months of age.

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“…Even when Ig levels are normal, patients with PNP deficiency usually cannot mount a normal antigen-specific antibody response following immunization, and this capacity declines over time to cause a true combined immune deficiency [7]. Patients with PNP deficiency are also at increased risk of developing autoimmunity, which may manifest as hemolytic anemia, immune thrombocytopenic purpura and other cytopenias, as well as systemic lupus erythematosus [8,9]. Patients with PNP deficiency can become symptomatic over a broad period between the ages of 4 months and 6 years.…”

Section: Discussionmentioning

confidence: 99%

Case of purine nucleoside phosphorylase deficiency presented with hematuria

Girit¹,

Genel²,

Can³

et al. 2012

OJPed

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Purine Nucleoside Phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder. In PNP-deficiency disorder, the deficient enzyme leads to accumulation of toxic metabolites, especially in lymphocytes and the metabolites exert toxic effect on T-cell generation. Purine nucleoside phosphorylase deficiency causes decreased numbers of T cells and lymphopenia. The patients suffering from PNP-deficiency may be admitted with recurrent infections, as well as neurological and autoimmune findings. We hereby presented a case admitted with the symptom of hematuria in which we established the diagnosis of PNP-deficiency early on the basis of detection of lymphopenia and low level of uric acid

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Familial Spastic Paraplegia as the Presenting Manifestation in Patients With Purine Nucleoside Phosphorylase Deficiency

Cited by 17 publications

References 12 publications

A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside phosphorylase deficiency

A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside phosphorylase deficiency

Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections

Case of purine nucleoside phosphorylase deficiency presented with hematuria

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