Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: Implications for treatment

British Journal of Haematology

Volumn 102, Issue 5, 1998, Pages 1363-1366

  Bozzi, F ^b   Lefranc, G ^c   Villa, A ^b   Badolato, R ^a   Schumacher, R F ^a   Khalil, G ^d   Loiselet, J ^d   Bresciani, S ^a   O'Shea, J J ^e   Vezzoni, P ^b   Notarangelo, L D ^a   Candotti, F ^a,f  

^a UNIVERSITY OF BRESCIA   (Italy)

^b CNR   (Italy)

^c CNRS and University Montpellier II   (France)

^d SAINT JOSEPH UNIVERSITY   (Lebanon)

^e NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Bone marrow transplantation; Cytokine signalling; JAK3; Mutation; Severe combined immune deficiency

Indexed keywords

CYTOKINE; INTERLEUKIN 2; PROTEIN TYROSINE KINASE;

ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CELLULAR IMMUNITY; COMBINED IMMUNODEFICIENCY; ENZYME DEFICIENCY; FEMALE; HLA TYPING; HUMAN; HUMAN CELL; HUMORAL IMMUNITY; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; TREATMENT OUTCOME;

EID: 7344264624     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.1998.tb08990.x     Document Type: Article

References (12)

1. Buckley, R.H., Schiff, R.I., Schiff, S.E., Markert, M.L., Williams, L.W., Harville, T.O., Roberts, J.L. & Puck, J.M. (1997) Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. Journal of Pediatrics, 130, 378-387.
2. Candotti, F., Oakes, S.A., Johnston, J.A., Giliani, S., Schumacher, R.F., Mella, P., Fiorini, M., Ugazio, A.G., Badolato, R., Notarangelo, L.D., Bozzi, F., Macchi, P. Strina, D., Vezzoni, P., Blease, R.M., O'Shea, J.J. & Villa, A. (1997) Stuctural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood, 90, 3996-4003.
3. Candotti, F., Oakes, S.A., Johnston, J.A., Notarangelo, L.D., O'Shea, J.J. & Blaese, R.M. (1996) In vitro correction of JAK3-deficient severe combined immunodeliciency by retroviral-mediated gene transduction. Journal of Experimental Medicine, 183, 2687-2692.
4. Fischer, A., Landais, P., Friedrich, W., Morgan, G., Gerritsen, B., Fasth, A., Porta, F., Griscelli, C., Goldman, S.F., Levinsky, R. & Vossen, J. (1990) European experience of bone-marrow transplantation for severe combined immunodeliciency. Lancet, 336, 850-854.
5. Geha, R.S., Malakian, A., LeFranc, D., Chayban, D. & Serre, J.-L., (1974) Immunologic reconstitution in severe combined immunodeficiency following transplantation with parental bone marrow. Pediatrics, 58, 451-455.
6. Macchi, P., Villa, A., Giliani, S., Sacco, M.G., Frattini, A., Porta, E., Ugazio, A.G., Johnston, J.A., Candotti, E., O'Shea, J.J., Vezsconi, P. & Notarangelo, L.D. (1995) Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature, 377, 65-68.
7. Noguchi, M., Yi, H., Rosenblatt, H.M., Filipovich, A.H., Adelslein, S., Modi, W.S., McBride, O.W. & Leonard, W.J. (1993) Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell, 73, 147-157.
8. Puck, J.M., Deschenes, S.M., Porter, J.C., Dutra, A.S., Brown, C.J., Willard, H.F. & Henthorn, P.S. (1993) The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Human Molecular Genetics, 2, 1099-1104.
9. Russell, S.M., Tayebi, N., Nakajima, H., Riedy, M.C., Roberts, J.L., Aman, M.J., Migone, T.-S., Noguchi, M., Markert, M.L., Buckley, R.H., O'Shea, J.J. & Leonard, W.J. (1995) Mutation of Jak3 in a patient with SCID: essential role of Jak 3 in lymphoid development. Science, 270, 797-800.
10. Stephan, J.L., Vlekova, V., Le Deist, P., Blanche, S., Donadieu, J., De Saint-Basile, G., Durandy, A., Griscelli, C. & Fischer, A. (1993) Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. Journal of Pediatrics, 123, 564-572.
11. Villa, A., Sironi, M., Macchi, P., Matteucci, C., Notarangelo, L.D., Vezzoni, P. & Mantovani, A. (1996) Monocyte function in a SCID patient with a donor splice site mutation in the JAK3 gene. Blood, 88, 817-823.
12. Wijnaendts, L., Le Deist, F., Griscelli, C. & Fischer, A. (1989) Development of immunologic functions after bone marrow transplantation in 33 patients with severe combined immunodeficiency Blood, 74, 2212-2219.