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

被引：15

作者：

Bozzi, F

Lefranc, G

Villa, A

Badolato, R

Schumacher, RF

Khalil, G

Loiselet, J

Bresciani, S

O'Shea, JJ

Vezzoni, P

Notarangelo, LD ^{[1
]}

Candotti, F

机构：

[1] Univ Brescia, Dept Paediat, Spedali Civili, I-25123 Brescia, Italy

[2] CNR, Ist Tecnol Biomed Avanzate, Dept Human Gnome & Multifactorial Dis Res, Segrate, MI, Italy

[3] CNRS, Inst Genet Humaine, Immunogenet Mol Lab, UPR 1142, F-75700 Paris, France

[4] St Josephs Univ, Fac Pharm, Beirut, Lebanon

[5] St Josephs Univ, Fac Med Dent, Beirut, Lebanon

[6] St Josephs Univ, Fac Med, Lab Biol Mol & Cytogenet, Beirut, Lebanon

[7] NIAMS, Lymphocyte Cell Biol Sect, ARB, NIH, Bethesda, MD USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1998年 / 102卷 / 05期

关键词：

severe combined immune deficiency; JAK3; cytokine signalling; mutation; bone marrow transplantation;

D O I：

10.1111/j.1365-2141.1998.tb08990.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Severe combined immunodeficiency (SCID) comprises a heterogenous group of disorders that are fatal unless treated by bone marrow transplantation (BMT). The most common form of SCID (T-B+ SCID) is due to mutations of either the common gamma chain (gamma c) or of gamma c-coupled JAK3 kinase. We report an unusual JAK3 defect in a female who was successfully treated > 20 years ago with a BMT using her HLA-identical father as the donor. Persistence of genetically and biochemically defective autologous B cells, associated with reconstitution of cellular and humoral immunity, suggests that integrity of the gamma c-JAK3 signalling pathway is not strictly required for immunoglobulin production.

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收藏

页码：1363 / 1366

页数：4

相关论文

共 12 条

[1] Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants [J].

Buckley, RH ;

Schiff, RI ;

Schiff, SE ;

Markert, ML ;

Williams, LW ;

Harville, TO ;

Roberts, JL ;

Puck, JM .

JOURNAL OF PEDIATRICS, 1997, 130 (03) :378-387

[2] In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction [J].

Candotti, F ;

Oakes, SA ;

Johnston, JA ;

Notarangelo, LD ;

OShea, JJ ;

Blaese, RM .

JOURNAL OF EXPERIMENTAL MEDICINE, 1996, 183 (06) :2687-2692

[3] Structural and functional basis for JAK3-deficient severe combined immunodeficiency [J].

Candotti, F ;

Oakes, SA ;

Johnston, JA ;

Giliani, S ;

Schumacher, RF ;

Mella, P ;

Fiorini, M ;

Ugazio, AG ;

Badolato, R ;

Notarangelo, LD ;

Bozzi, F ;

Macchi, P ;

Strina, D ;

Vezzoni, P ;

Blaese, RM ;

OShea, JJ ;

Villa, A .

BLOOD, 1997, 90 (10) :3996-4003

[4] USE OF HYBRID REFLECTORS TO ACHIEVE LOW THRESHOLDS IN ALL MOLECULAR-BEAM EPITAXY GROWN VERTICAL CAVITY SURFACE EMITTING LASER-DIODES [J].

FISCHER, RJ ;

TAI, K ;

HONG, M ;

VANDENBERG, JM ;

YING, JY ;

MANNAERTS, JP ;

CHO, AY .

JOURNAL OF VACUUM SCIENCE & TECHNOLOGY B, 1990, 8 (02) :336-338

[5]

GEHA RS, 1974, PEDIATRICS, V58, P451

[6] MUTATIONS OF JAK-3 GENE IN PATIENTS WITH AUTOSOMAL SEVERE COMBINED IMMUNE-DEFICIENCY (SCID) [J].

MACCHI, P ;

VILLA, A ;

GILIANI, S ;

SACCO, MG ;

FRATTINI, A ;

PORTA, F ;

UGAZIO, AG ;

JOHNSTON, JA ;

CANDOTTI, F ;

O'SHEA, JJ ;

VEZZONI, P ;

NOTARANGELO, LD .

NATURE, 1995, 377 (6544) :65-68

[7] INTERLEUKIN-2 RECEPTOR GAMMA CHAIN MUTATION RESULTS IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY IN HUMANS [J].

NOGUCHI, M ;

YI, HF ;

ROSENBLATT, HM ;

FILIPOVICH, AH ;

ADELSTEIN, S ;

MODI, WS ;

MCBRIDE, OW ;

LEONARD, WJ .

CELL, 1993, 73 (01) :147-157

[8] THE INTERLEUKIN-2 RECEPTOR GAMMA-CHAIN MAPS TO XQ13.1 AND IS MUTATED IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY, SCIDX1 [J].

PUCK, JM ;

DESCHENES, SM ;

PORTER, JC ;

DUTRA, AS ;

BROWN, CJ ;

WILLARD, HF ;

HENTHORN, PS .

HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1099-1104

[9] MUTATION OF JAK3 IN A PATIENT WITH SCID - ESSENTIAL ROLE OF JAK3 IN LYMPHOID DEVELOPMENT [J].

RUSSELL, SM ;

TAYEBI, N ;

NAKAJIMA, H ;

RIEDY, MC ;

ROBERTS, JL ;

AMAN, MJ ;

MIGONE, TS ;

NOGUCHI, M ;

MARKERT, ML ;

BUCKLEY, RH ;

O'SHEA, JJ ;

LEONARD, WJ .

SCIENCE, 1995, 270 (5237) :797-800

[10] SEVERE COMBINED IMMUNODEFICIENCY - A RETROSPECTIVE SINGLE-CENTER STUDY OF CLINICAL PRESENTATION AND OUTCOME IN 117 PATIENTS [J].

STEPHAN, JL ;

VLEKOVA, V ;

LEDEIST, F ;

BLANCHE, S ;

DONADIEU, J ;

DESAINTBASILE, G ;

DURANDY, A ;

GRISCELLI, C ;

FISCHER, A .

JOURNAL OF PEDIATRICS, 1993, 123 (04) :564-572