Histopathologic Abnormalities of the Lymphoreticular Tissues in Organic Cation Transporter 2 Deficiency: Evidence for Impaired B Cell Maturation

Journal of Pediatrics

Volumn 150, Issue 1, 2007, Pages

  Komlósi, Katalin ^a   Havasi, Viktória ^a   Bene, Judit ^a   Süle, Norbert ^a   Pajor, László ^a   Nicolai, Raffaella ^a   Benatti, Paola ^a   Calvani, Menotti ^a   Melegh, Béla ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ORGANIC CATION TRANSPORTER 2;

ARTICLE; B LYMPHOCYTE DIFFERENTIATION; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; HISTOPATHOLOGY; HUMAN; HUMORAL IMMUNITY; IMMUNOHISTOCHEMISTRY; IMMUNOPATHOLOGY; LABORATORY TEST; MALE; ORGANIC CATION TRANSPORTER DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RETICULOENDOTHELIAL SYSTEM;

EID: 33845640146     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.09.042     Document Type: Article

References (12)

1. Tamai I., Ohashi R., Nezu J., Yabuuchi H., Oku A., Shimane M., et al. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem 273 (1998) 20378-20382
2. Wu X., Prasad P.D., Leibach F.H., and Ganapathy V. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem Biophys Res Commun 246 (1998) 589-595
3. Nezu J., Tamai I., Oku A., Ohashi R., Yabuuchi H., Hashimoto N., et al. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 21 (1999) 91-94
4. Lamhonwah A.M., Olpin S.E., Pollitt R.J., Vianey-Saban C., Divry P., Guffon N., et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet 111 (2002) 271-284
5. Melegh B., Bene J., Mogyorosy G., Havasi V., Komlosi K., Pajor L., et al. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families. Am J Med Genet A 131 (2004) 121-126
6. Wang Y., Korman S.H., Ye J., Gargus J.J., Gutman A., Taroni F., et al. Phenotype and genotype variation in primary carnitine deficiency. Genet Med 3 (2001) 387-392
7. Athanassakis I., Mouratidou M., Sakka P., Evangeliou A., Spilioti M., and Vassiliadis S. L-carnitine modifies the humoral immune response in mice after in vitro or in vivo treatment. Int Immunopharmacol 1 (2001) 1813-1822
8. Athanassakis I., Dionyssopoulou E., Papanikou S., Evangeliou A., and Vassiliadis S. Early events of the exogenously provided L-Carnitine in murine macrophages, T- and B-lymphocytes: modulation of prostaglandin E1 and E2 production in response to arachidonic acid. J Nutr Biochem 14 (2003) 350-357
9. Cress A.P., Fraker P.J., and Bieber L.L. Carnitine and acylcarnitine levels of human peripheral blood lymphocytes and mononuclear phagocytes. Biochim Biophys Acta 992 (1989) 135-139
10. Mutomba M.C., Yuan H., Konyavko M., Adachi S., Yokoyama C.B., Esser V., et al. Regulation of the activity of caspases by L-carnitine and palmitoylcarnitine. FEBS Lett 478 (2000) 19-25
11. Pillich R.T., Scarsella G., and Risuleo G. Reduction of apoptosis through the mitochondrial pathway by the administration of acetyl-l-carnitine to mouse fibroblasts in culture. Exp Cell Res 306 (2005) 1-8
12. Arrigoni-Martelli E., and Caso V. Carnitine protects mitochondria and removes toxic acyls from xenobiotics. Drugs Exp Clin Res 27 (2001) 27-49