Unexpected and variable phenotypes in a family with JAK3 deficiency

Genes and Immunity

Volumn 2, Issue 8, 2001, Pages 422-432

  Frucht, D M ^a,f   Gadina, M ^a   Jagadeesh, G J ^b   Aksentijevich, I ^a   Takada, K ^a   Bleesing, J J H ^c   Nelson, J ^a   Muul, L M ^b   Perham, G ^d   Morgan, G ^e,g   Gerritsen, E J A ^e,h   Schumacher, R F ⁱ   Mella, P ⁱ   Veys, P A ^e   Fleisher, T A ^c   Kaminski, E R ^d   Notarangelo, L D ⁱ   O'Shea, J J ^a   Candotti, F ^b  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d DERRIFORD HOSPITAL   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f Office of Cellular Tissues and Gene Therapies   (United States)

^g MEDICAL RESEARCH COUNCIL LABORATORIES   (Gambia)

^h Medisch Centrum Rijnmond Zuid   (Netherlands)

ⁱ NONE

Author keywords

Fas ligand; IL 2; JAK3; Lymphoproliferation; SCID

Indexed keywords

JANUS;

COMPLEMENTARY DNA; FAS LIGAND; FASLG PROTEIN, HUMAN; INTERLEUKIN 2; INTERLEUKIN 2 RECEPTOR; JAK3 PROTEIN, HUMAN; JANUS KINASE 3; LYMPHOCYTE ANTIGEN RECEPTOR; MEMBRANE PROTEIN; PROTEIN TYROSINE KINASE;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; B LYMPHOCYTE; CELL LINE; CHILD; COMBINED IMMUNODEFICIENCY; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENETICS; HUMAN; IMMUNOLOGY; IMMUNOPHENOTYPING; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; SIGNAL TRANSDUCTION; T LYMPHOCYTE; UPREGULATION;

ADOLESCENT; AMINO ACID SEQUENCE; B-LYMPHOCYTES; CELL LINE, TRANSFORMED; CHILD; DNA, COMPLEMENTARY; FAS LIGAND PROTEIN; FEMALE; GENE EXPRESSION; HUMANS; IMMUNOPHENOTYPING; INTERLEUKIN-2; JANUS KINASE 3; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN-TYROSINE KINASES; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; RECEPTORS, INTERLEUKIN-2; SEQUENCE ANALYSIS, DNA; SEVERE COMBINED IMMUNODEFICIENCY; SIGNAL TRANSDUCTION; T-LYMPHOCYTES; UP-REGULATION;

EID: 18044399607     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6363802     Document Type: Article

References (46)

1. Leonard WJ, O'Shea JJ. Jaks and STATs: biological implications. Annu Rev Immunol 1998; 16: 293-322.
2. Ihle JN, Thierfelder W, Teglund S et al. Signaling by the cytokine receptor superfamily. Ann NY Acad Sci 1998; 865: 1-9.
3. Macchi P, Villa A, Giliani S et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995; 377: 65-68.
4. Russell SM, Tayebi N, Nakajima H et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 1995; 270: 797-800.
5. Candotti F, Oakes SA, Johnston JA et al. Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood 1997; 90: 3996-4003.
6. Thomis DC, Gurniak CB, Tivol E, Sharpe AH, Berg LJ. Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3. Science 1995; 270: 794-797.
7. Nosaka T, van Deursen JM, Tripp RA et al. Defective lymphoid development in mice lacking Jak3. Science 1995; 270: 800-802.
8. Park SY, Saijo K, Takahashi T et al. Developmental defects of lymphoid cells in Jak3 kinase-deficient mice. Immunity 1995; 3: 771-782.
9. Peschon JJ, Morrissey PJ, Grabstein KH et al. Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice. J Exp Med 1994; 180: 1955-1960.
10. von Freeden-Jeffry U, Vieira P, Lucian LA, McNeil T, Burdach SE, Murray R. Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J Exp Med 1995; 181: 1519-1526.
11. Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-) B(+)NK(+) severe combined immunodeficiency. Nat Genet 1998; 20: 394-397.
12. Kennedy MK, Glaccum M, Brown SN et al. Reversible defects in natural killer and memory CDS T cell lineages in interleukin 15-deficient mice. J Exp Med 2000; 191: 771-780.
13. Suzuki H, Kundig TM, Furlonger C et al. Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. Science 1995; 268: 1472-1476.
14. Willerford DM, Chen J, Ferry JA, Davidson L, Ma A, Alt FW. Interleukin-2 receptor alpha chain regulates the size and content of the peripheral lymphoid compartment. Immunity 1995; 3: 521-530.
15. Schorle H, Holtschke T, Hunig T, Schimpl A, Horak I. Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting. Nature 1991; 352: 621-624.
16. Saijo K, Park SY, Ishida Y, Arase H, Saito T. Crucial role of Jak3 in negative selection of self-reactive T cells. J Exp Med 1997; 185: 351-356.
17. Baird AM, Lucas JA, Berg LJ. A profound deficiency in thymic progenitor cells in mice lacking Jak3. J Immunol 2000; 165: 3680-3688.
18. Brugnoni D, Notarangelo LD, Sottini A et al. Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase. Blood 1998; 91: 949-955.
19. McVay LD, Carding SR. Generation of human gammadelta T-cell repertoires. Crit Rev Immunol 1999; 19: 431-460.
20. Sottini A, Quiros-Roldan E, Albertini A, Primi D, Imberti L. Assessment of T-cell receptor beta-chain diversity by heteroduplex analysis. Hum Immunol 1996; 48: 12-22.
21. Van Parijs L, Refaeli Y, Lord JD, Nelson BH, Abbas AK, Baltimore D. Uncoupling IL-2 signals that regulate T cell proliferation, survival, and Fas-mediated activation-induced cell death. Immunity 1999; 11: 281-288.
22. Fischer A, Rieux-Laucat F, Le Deist F. Autoimmune lymphoproliferative syndromes (ALPS): models for the study of peripheral tolerance. Rev Immunogenet 2000; 2: 52-60.
23. Buckley RH, Schiff RI, Schiff SE et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 1997; 130: 378-387.
24. Chen M, Cheng A, Chen YQ et al. The amino terminus of JAK3 is necessary and sufficient for binding to the common gamma chain and confers the ability to transmit interleukin 2-mediated signals. Proc Natl Acad Sci USA 1997; 94: 6910-6915.
25. Cacalano NA, Migone TS, Bazan F et al. Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain. Embo J 1999; 18: 1549-1558.
26. Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 1996; 13: 290-295.
27. Stephan V, Wahn V, Le Deist F et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 1996; 335: 1563-1567.
28. Schmalstieg FC, Leonard WJ, Noguchi M et al. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest 1995; 95: 1169-1173.
29. Sharfe N, Shahar M, Roifman CM. An interleukin-2 receptor gamma chain mutation with normal thymus morphology. J Clin Invest 1997; 100: 3036-3043.
30. Mella P, Imberti L, Brugnoni D et al. Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization. Clin Immunol 2000; 95: 39-50.
31. Gozalo-Sanmillan S, McNally JM, Lin MY, Chambers CA, Berg LJ. Cutting edge: two distinct mechanisms lead to impaired T cell homeostasis in Janus kinase 3-and CTLA-4-deficient mice. J Immunol 2001; 166: 727-730.
32. Baird AM, Thomis DC, Berg LJ. T cell development and activation in Jak3-deficient mice. J Leukoc Biol 1998; 63: 669-677.
33. Thomis DC, Berg LJ. Peripheral expression of Jak3 is required to maintain T lymphocyte function. J Exp Med 1997; 185: 197-206.
34. Thomis DC, Lee W, Berg LJ. T cells from Jak3-deficient mice have intact TCR signaling, but increased apoptosis. J Immunol 1997; 159: 4708-4719.
35. Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 2000; 71: 10-18.
36. Brown MP, Nosaka T, Tripp RA et al. Reconstitution of early lymphoid proliferation and immune function in Jak3-deficient mice by interleukin-3. Blood 1999; 94: 1906-1914.
37. Moriggl R, Topham DJ, Teglund S et al. Stat5 is required for IL-2-induced cell cycle progression of peripheral T cells. Immunity 1999; 10: 249-259.
38. Lenardo M, Chan KM, Hornung F et al. Mature T lymphocyte apoptosis-immune regulation in a dynamic and unpredictable antigenic environment. Annu Rev Immunol 1999; 17: 221-253.
39. Sharfe N, Dadi HK, Shahar M, Roifman CM. Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc Natl Acad Sci USA 1997; 94: 3168-3171.
40. Candotti F, Oakes SA, Johnston JA, Notarangelo LD, O'Shea JJ, Blaese RM. In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mcdiated gene transduction. J Exp Med 1996; 183: 2687-2692.
41. Bunting KD, Sangster MY, Ihle JN, Sorrentino BP. Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer. Nat Med 1998; 4: 58-64.
42. Sneller MC, Wang J, Dale JK et al. Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 1997; 89: 1341-1348.
43. Rowen L, Koop BF, Hood L. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus. Science 1996; 272: 1755-1762.
44. Johnston JA, Kawamura M, Kirken RA et al. Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2. Nature 1994; 370: 151-153.
45. Kawamura M, McVicar DW, Johnston JA et al. Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes. Proc Natl Acad Sci USA 1994; 91: 6374-6378.
46. Liu X, Robinson GW, Gouilleux F, Groner B, Hennighausen L. Cloning and expression of Stat5 and an additional homologue (Stat5b) involved in prolactin signal transduction in mouse mammary tissue. Proc Natl Acad Sci USA 1995; 92: 8831-8835.