Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.
Coffey
A J
AJ
The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK. ajc@sanger.ac.uk
Brooksbank
R A
RA
Brandau
O
O
Oohashi
T
T
Howell
G R
GR
Bye
J M
JM
Cahn
A P
AP
Durham
J
J
Heath
P
P
Wray
P
P
Pavitt
R
R
Wilkinson
J
J
Leversha
M
M
Huckle
E
E
Shaw-Smith
C J
CJ
Dunham
A
A
Rhodes
S
S
Schuster
V
V
Porta
G
G
Yin
L
L
Serafini
P
P
Sylla
B
B
Zollo
M
M
Franco
B
B
Bolino
A
A
Seri
M
M
Lanyi
A
A
Davis
J R
JR
Webster
D
D
Harris
A
A
Lenoir
G
G
de St Basile
G
G
Jones
A
A
Behloradsky
B H
BH
Achatz
H
H
Murken
J
J
Fassler
R
R
Sumegi
J
J
Romeo
G
G
Vaudin
M
M
Ross
M T
MT
Meindl
A
A
Bentley
D R
DR
D015703:Antigens, CD; D001402:B-Lymphocytes / Q000276:immunology / Q000821:virology; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D003001:Cloning, Molecular; D005260:Female; D008040:Genetic Linkage; D006023:Glycoproteins / Q000378:metabolism; D006566:Herpesviridae Infections / Q000150:complications* / Q000276:immunology / Q000821:virology; D004854:Herpesvirus 4, Human; D006801:Humans; D007136:Immunoglobulins / Q000378:metabolism; D047908:Intracellular Signaling Peptides and Proteins; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000821:virology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011956:Receptors, Cell Surface; D016415:Sequence Alignment; D017384:Sequence Deletion; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D000071177:Signaling Lymphocytic Activation Molecule Family Member 1; D013601:T-Lymphocytes / Q000276:immunology / Q000821:virology; D014960:X Chromosome; D018909:src Homology Domains / Q000235:genetics*
D015703:Antigens, CD; D002352:Carrier Proteins; D006023:Glycoproteins; D007136:Immunoglobulins; D047908:Intracellular Signaling Peptides and Proteins; D011956:Receptors, Cell Surface; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D000071177:Signaling Lymphocytic Activation Molecule Family Member 1