Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

Clinical Immunology

Volumn 133, Issue 3, 2009, Pages 287-294

  Borzutzky, Arturo ^a   Crompton, Brian ^a,b   Bergmann, Anke K ^a   Giliani, Silvia ^a   Baxi, Sachin ^a   Martin, Madelena ^c   Neufeld, Ellis J ^a,b   Notarangelo, Luigi D ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c UMASS MEMORIAL MEDICAL CENTER   (United States)

Author keywords

Folic acid; Hereditary folate malabsorption; PCFT; Recent thymic emigrants; Severe combined immunodeficiency

Indexed keywords

ANTIBODY; CEFTRIAXONE; COTRIMOXAZOLE; FOLIC ACID; GANCICLOVIR; HAEMOPHILUS INFLUENZAE VACCINE; MITOGENIC AGENT; PNEUMOCOCCUS VACCINE; PROTON; PROTON COUPLED FOLATE TRANSPORTER; TETANUS TOXOID; UNCLASSIFIED DRUG;

ANEMIA; ANTIBODY RESPONSE; ARTICLE; BACTEREMIA; CASE REPORT; CELL COUNT; CELLULAR DISTRIBUTION; CELLULAR IMMUNITY; CEREBROSPINAL FLUID LEVEL; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; EXON; FAILURE TO THRIVE; FEMALE; FOLIC ACID BLOOD LEVEL; GENE; GENE MUTATION; HIGH FREQUENCY VENTILATION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HUMORAL IMMUNITY; IMMUNOGLOBULIN DEFICIENCY; IMMUNOLOGY; INFANT; INFLUENZA; INTERSTITIAL PNEUMONIA; KLEBSIELLA PNEUMONIAE; LABORATORY TEST; LUNG LAVAGE; LYMPHOCYTE PROLIFERATION; LYMPHOCYTE SUBPOPULATION; NEUTROPENIA; PCFT GENE; PHENOTYPE; PNEUMOCOCCAL INFECTION; PNEUMOCYSTIS JIROVECI; PNEUMOCYSTIS PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE; TETANUS; THORAX RADIOGRAPHY; THYMUS;

BASE SEQUENCE; DNA; FEMALE; FLOW CYTOMETRY; FOLIC ACID; GENETIC VARIATION; HUMANS; IMMUNOPHENOTYPING; INFANT; INTESTINAL ABSORPTION; LEUCOVORIN; MALE; MEMBRANE TRANSPORT PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES;

EID: 70350613227     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2009.08.006     Document Type: Article

References (23)

1. Duthie S.J., and Hawdon A. DNA instability (strand breakage, uracil misincorporation, and defective repair) is increased by folic acid depletion in human lymphocytes in vitro. FASEB J. 12 (1998) 1491-1497
2. Wang Y., Rajgopal A., Goldman I.D., and Zhao R. Preservation of folate transport activity with a low-pH optimum in rat IEC-6 intestinal epithelial cell lines that lack reduced folate carrier function. Am. J. Physiol. Cell Physiol. 288 (2005) C65-C71
3. Wollack J.B., Makori B., Ahlawat S., Koneru R., Picinich S.C., Smith A., et al. Characterization of folate uptake by choroid plexus epithelial cells in a rat primary culture model. J. Neurochem. 104 (2008) 1494-1503
4. Qiu A., Jansen M., Sakaris A., Min S.H., Chattopadhyay S., Tsai E., et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell 127 (2006) 917-928
5. Lasry I., Berman B., Straussberg R., Sofer Y., Bessler H., Sharkia M., et al. A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Blood 112 (2008) 2055-2061
6. Zhao R., Min S.H., Qiu A., Sakaris A., Goldberg G.L., Sandoval C., et al. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood 110 (2007) 1147-1152
7. Whitehead V.M. Acquired and inherited disorders of cobalamin and folate in children. Br. J. Haematol. 134 (2006) 125-136
8. Malatack J.J., Moran M.M., and Moughan B. Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect. Pediatrics 104 (1999) 1133-1137
9. Geller J., Kronn D., Jayabose S., and Sandoval C. Hereditary folate malabsorption: family report and review of the literature. Medicine (Baltimore) 81 (2002) 51-68
10. Stone K.D., Feldman H.A., Huisman C., Howlett C., Jabara H.H., and Bonilla F.A. Analysis of in vitro lymphocyte proliferation as a screening tool for cellular immunodeficiency. Clin. Immunol. 131 (2009) 41-49
11. Quah B.J., Warren H.S., and Parish C.R. Monitoring lymphocyte proliferation in vitro and in vivo with the intracellular fluorescent dye carboxyfluorescein diacetate succinimidyl ester. Nat. Protoc. 2 (2007) 2049-2056
12. Courtemanche C., Elson-Schwab I., Mashiyama S.T., Kerry N., and Ames B.N. Folate deficiency inhibits the proliferation of primary human CD8+ T lymphocytes in vitro. J. Immunol. 173 (2004) 3186-3192
13. Courtemanche C., Huang A.C., Elson-Schwab I., Kerry N., Ng B.Y., and Ames B.N. Folate deficiency and ionizing radiation cause DNA breaks in primary human lymphocytes: a comparison. FASEB J. 18 (2004) 209-211
14. Sofer Y., Harel L., Sharkia M., Amir J., Schoenfeld T., and Straussberg R. Neurological manifestations of folate transport defect: case report and review of the literature. J. Child. Neurol. 22 (2007) 783-786
15. Corbeel L., Van den Berghe G., Jaeken J., Van Tornout J., and Eeckels R. Congenital folate malabsorption. Eur. J. Pediatr. 143 (1985) 284-290
16. Urbach J., Abrahamov A., and Grossowicz N. Congenital isolated folic acid malabsorption. Arch. Dis. Child. 62 (1987) 78-80
17. Safrin S., Lee B.L., and Sande M.A. Adjunctive folinic acid with trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia in AIDS patients is associated with an increased risk of therapeutic failure and death. J. Infect. Dis. 170 (1994) 912-917
18. Then R.L. Antimicrobial dihydrofolate reductase inhibitors-achievements and future options: review. J. Chemother. 16 (2004) 3-12
19. Jebnoun S., Kacem S., Mokrani C.H., Chabchoub A., Khrouf N., and Zittoun J. A family study of congenital malabsorption of folate. J. Inherit. Metab. Dis. 24 (2001) 749-750
20. Poncz M., Colman N., Herbert V., Schwartz E., and Cohen A.R. Therapy of congenital folate malabsorption. J. Pediatr. 98 (1981) 76-79
21. Spivak J.L. Masked megaloblastic anemia. Arch. Intern. Med. 142 (1982) 2111-2114
22. Min S.H., Oh S.Y., Karp G.I., Poncz M., Zhao R., and Goldman I.D. The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption. J. Pediatr. 153 (2008) 435-437
23. Lanzkowsky P. Congenital malabsorption of folate. Am. J. Med. 48 (1970) 580-583