Entry - %272370 - SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 - OMIM
 
% 272370

SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1


Alternative titles; symbols

NATURAL KILLER CELL SUSCEPTIBILITY 1; NKS1


Cytogenetic location: 6p21.3     Genomic coordinates (GRCh38): 6:30,500,001-36,600,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
6p21.3 {Lysis by alloreactive natural killer cells, susceptibility to} 272370 AR 2
Clinical Synopsis
 

Immunology
- Alloreactive natural killer cell lysis susceptibility
Inheritance
- Autosomal recessive

TEXT

Description

Susceptibility to lysis by alloreactive natural killer (NK) cells is an autosomal recessive trait (thus differing from the behavior of conventional MHC products) (Ciccone et al., 1990; Ciccone et al., 1990).


Mapping

Ciccone et al. (1990) mapped the locus for susceptibility to lysis by alloreactive natural killer cells, termed EC1, to chromosome 6. Ciccone et al. (1990) mapped it to the major histocompatibility complex region with its centromeric limit at BF (138470). Ciccone et al. (1990) raised the possibility that 'hybrid resistance' in mice (Hh-I) may be the homologous state and noted that the Hh-I alloantigens are recessively inherited and encoded in the murine MHC on chromosome 17.


REFERENCES

  1. Ciccone, E., Colonna, M., Viale, O., Pende, D., Di Donato, C., Reinharz, D., Amoroso, A., Jeannet, M., Guardiola, J., Moretta, A., Spies, T., Strominger, J., Moretta, L. Susceptibility or resistance to lysis by alloreactive natural killer cells is governed by a gene in the human major histocompatibility complex between BF and HLA-B. Proc. Nat. Acad. Sci. 87: 9794-9797, 1990. Note: Erratum: Proc. Nat. Acad. Sci. 88: 5477 only, 1991. [PubMed: 1979875, related citations] [Full Text]

  2. Ciccone, E., Pende, D., Viale, O., Tambussi, G., Ferrini, S., Biassoni, R., Longo, A., Guardiola, J., Moretta, A., Moretta, L. Specific recognition of human CD3(-)CD16+ natural killer cells requires the expression of an autosomic (sic) recessive gene on target cells. J. Exp. Med. 172: 47-52, 1990. [PubMed: 1694227, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 1/25/1991
carol : 08/21/2018
carol : 10/21/2004
mgross : 3/18/2004
dkim : 12/10/1998
mimadm : 3/12/1994
carol : 8/25/1992
supermim : 3/17/1992
carol : 1/28/1991
carol : 1/25/1991

% 272370

SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1


Alternative titles; symbols

NATURAL KILLER CELL SUSCEPTIBILITY 1; NKS1


Cytogenetic location: 6p21.3     Genomic coordinates (GRCh38): 6:30,500,001-36,600,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
6p21.3 {Lysis by alloreactive natural killer cells, susceptibility to} 272370 Autosomal recessive 2

TEXT

Description

Susceptibility to lysis by alloreactive natural killer (NK) cells is an autosomal recessive trait (thus differing from the behavior of conventional MHC products) (Ciccone et al., 1990; Ciccone et al., 1990).


Mapping

Ciccone et al. (1990) mapped the locus for susceptibility to lysis by alloreactive natural killer cells, termed EC1, to chromosome 6. Ciccone et al. (1990) mapped it to the major histocompatibility complex region with its centromeric limit at BF (138470). Ciccone et al. (1990) raised the possibility that 'hybrid resistance' in mice (Hh-I) may be the homologous state and noted that the Hh-I alloantigens are recessively inherited and encoded in the murine MHC on chromosome 17.


REFERENCES

  1. Ciccone, E., Colonna, M., Viale, O., Pende, D., Di Donato, C., Reinharz, D., Amoroso, A., Jeannet, M., Guardiola, J., Moretta, A., Spies, T., Strominger, J., Moretta, L. Susceptibility or resistance to lysis by alloreactive natural killer cells is governed by a gene in the human major histocompatibility complex between BF and HLA-B. Proc. Nat. Acad. Sci. 87: 9794-9797, 1990. Note: Erratum: Proc. Nat. Acad. Sci. 88: 5477 only, 1991. [PubMed: 1979875] [Full Text: https://doi.org/10.1073/pnas.87.24.9794]

  2. Ciccone, E., Pende, D., Viale, O., Tambussi, G., Ferrini, S., Biassoni, R., Longo, A., Guardiola, J., Moretta, A., Moretta, L. Specific recognition of human CD3(-)CD16+ natural killer cells requires the expression of an autosomic (sic) recessive gene on target cells. J. Exp. Med. 172: 47-52, 1990. [PubMed: 1694227] [Full Text: https://doi.org/10.1084/jem.172.1.47]


Creation Date:
Victor A. McKusick : 1/25/1991

Edit History:
carol : 08/21/2018
carol : 10/21/2004
mgross : 3/18/2004
dkim : 12/10/1998
mimadm : 3/12/1994
carol : 8/25/1992
supermim : 3/17/1992
carol : 1/28/1991
carol : 1/25/1991