nach oben

Erschienen in:

01.03.2010 | Original Paper

Purine nucleoside phosphorylase deficiency with fatal course in two sisters

verfasst von: Caner Aytekin, Figen Dogu, Gonul Tanir, Deniz Guloglu, Ines Santisteban, Michael S. Hershfield, Aydan Ikinciogullari

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2010

Einloggen, um Zugang zu erhalten

Abstract

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis. Mutation analysis of the PNP gene from both sisters revealed a homozygous mutation for a G>A at nucleotide 349 (349 G>A transition), which changes alanine 117 to theronine in exon 4 (A117T). An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment.

Abdalian R, Heathcote EJ (2006) Sclerosing cholangitis: a focus on secondary causes. Hepatology 44:1063–1074CrossRefPubMed

Antachopoulos C, Walsh TJ, Roilides E (2007) Fungal infections in primary immunodeficiencies. Eur J Pediatr 166:1099–1117CrossRefPubMed

Aksu G, Genel F, Koturoglu G et al (2006) Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr 48:19–24PubMed

Aytekin C, Yuksek M, Dogu F et al (2008) An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. Pediatr Transplant 12:479–482CrossRefPubMed

Bernatowska EA, Wolska-Kusnierz B, Pac M et al (2007) Disseminated bacillus Calmette–Guérin infection and immunodeficiency. Emerg Infect Dis 13:799–801PubMed

Dalal I, Grunebaum E, Cohen A, Roifman CM (2001) Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet 59:430–437CrossRefPubMed

Deerojanawong J, Chang AB, Eng PA et al (1997) Pulmonary diseases in children with severe combined immune deficiency and Di George syndrome. Pediatr Pulmonol 24:324–330CrossRefPubMed

Dror Y, Grunebaum E, Hitzler J et al (2004) Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. Pediatr Res 55:472–477CrossRefPubMed

Esposito I, Kubisova A, Stiehl A et al (2008) Secondary sclerosing cholangitis after intensive care unit treatment: clues to the histopathological differential diagnosis. Virchows Arch 453:339–345CrossRefPubMed

10.

Flynn JL, Chan J (2001) Immunology of tuberculosis. Annu Rev Immunol 19:93–129CrossRefPubMed

11.

Grunebaum E, Zhang J, Roifman CM (2004) Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. Nucleosides Nucleotides Nucleic Acids 23:1411–1415CrossRefPubMed

12.

Hershfield MS (2004) Combined immune deficiencies due to purine enzyme defects. In: Stiehm ER, Ochs HD, Winkelstein JA (eds) Immunologic disorders in infants and children, 5th edn. Saunders, Philadelphia, pp 480–504

13.

Hirschhorn R, Candotti F (2007) Immunodeficiency due to defect of purine metabolism. In: Ochs HD, Smith CI, Puck JM (eds) Primary immunodeficiecy diseases. A molecular and genetic approach, 2nd edn. Oxford University Press, New York, pp 169–196

14.

Ikinciogullari A, Kendirli T, Dogu F et al (2004) Peripheral blood lymphocyte subsets in healthy Turkish children. Turk J Pediatr 46:125–130PubMed

15.

Kobayashi S, Murayama S, Tatsuzawa O et al (2007) X-linked severe combined immunodeficiency (X-SCID) with high blood levels of immunoglobulins and Aspergillus pneumonia successfully treated with micafungin followed by unrelated cord blood stem cell transplantation. Eur J Pediatr 166:207–210CrossRefPubMed

16.

Maggs JR, Chapman RW (2008) An update on primary sclerosing cholangitis. Curr Opin Gastroenterol 24:377–383CrossRefPubMed

17.

Markert ML (1991) Purine nucleoside phosphorylase deficiency. Immunodefic Rev 3:45–81PubMed

18.

Reichenbach J, Rosenzweig S, Döffinger R et al (2001) Mycobacterial diseases in primary immunodeficiencies. Curr Opin Allergy Clin Immunol 1:503–511CrossRefPubMed

19.

Yoshihara T, Morimoto A, Nakauchi S et al (2002) Successful transplantation of haploidentical CD34+ selected bone marrow cells for an infantile case of severe combined immunodeficiency with Aspergillus pneumonia. Pediatr Hematol Oncol 19:439–443CrossRefPubMed

Titel: Purine nucleoside phosphorylase deficiency with fatal course in two sisters
verfasst von: Caner Aytekin
Figen Dogu
Gonul Tanir
Deniz Guloglu
Ines Santisteban
Michael S. Hershfield
Aydan Ikinciogullari
Publikationsdatum: 01.03.2010
Verlag: Springer-Verlag
Erschienen in: European Journal of Pediatrics / Ausgabe 3/2010
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-009-1029-6

Update Pädiatrie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Purine nucleoside phosphorylase deficiency with fatal course in two sisters

Abstract

Neu im Fachgebiet Pädiatrie

Ähnliche Überlebensraten nach Reanimation während des Transports bzw. vor Ort

Alter der Mutter beeinflusst Risiko für kongenitale Anomalie

Begünstigt Bettruhe der Mutter doch das fetale Wachstum?

Bei Amblyopie früher abkleben als bisher empfohlen?

Update Pädiatrie

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2010

Bleeding complications after ritual circumcision: about six children

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

Late respiratory failure in Jeune syndrome

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

Measuring health-related quality of life in Hungarian children attending a cardiology clinic with the Pediatric Quality of Life Inventory™

Remittent hyperammonemia in congenital portosystemic shunt

Neu im Fachgebiet Pädiatrie

Ähnliche Überlebensraten nach Reanimation während des Transports bzw. vor Ort

Alter der Mutter beeinflusst Risiko für kongenitale Anomalie

Begünstigt Bettruhe der Mutter doch das fetale Wachstum?

Bei Amblyopie früher abkleben als bisher empfohlen?

Update Pädiatrie