MAPPING OF THE X-LINKED FORM OF HYPER-IGM SYNDROME (HIGM1)

被引:8
|
作者
PADAYACHEE, M
LEVINSKY, RJ
KINNON, C
FINN, A
MCKEOWN, C
FEIGHERY, C
NOTARANGELO, LD
HENDRIKS, RW
READ, AP
MALCOLM, S
机构
[1] INST CHILD HLTH,MOLEC GENET UNIT,30 GUILFORD ST,LONDON WC1N 1EH,ENGLAND
[2] INST CHILD HLTH,MOLEC IMMUNOL UNIT,LONDON WC1N 1EH,ENGLAND
[3] BIRMINGHAM MATERN HOSP,DEPT CLIN GENET,BIRMINGHAM B15 2TG,W MIDLANDS,ENGLAND
[4] ST JAMES HOSP,DEPT IMMUNOL,DUBLIN 8,IRELAND
[5] UNIV BRESCIA,DEPT PAEDIAT,I-25123 BRESCIA,ITALY
[6] LEIDEN UNIV HOSP,DEPT IMMUNOHAEMATOL,2333 AA LEIDEN,NETHERLANDS
[7] ST MARYS HOSP,DEPT MED GENET,MANCHESTER M13 0JH,LANCS,ENGLAND
关键词
D O I
10.1136/jmg.30.3.202
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
X linked immunodeficiency with hyper-immunoglobulinaemia M (HIGM1), which is characterised by agammaglobulinaemia together with excess IgM production reflecting an impairment of the immunoglobulin heavy chain class switch of B lymphocytes, has been mapped to Xq26. We report multipoint linkage data in six families with HIGM1 which show that the most likely position for the gene is close to HPRT with a maximum lod score of 4-89. The finding of recombinations between HIGM1 and both HPRT and DXS42 implies that HIGM1 is not allelic to X linked lymphoproliferative disease. These data will be useful in genetic counselling in families and will also be useful in testing candidate genes.
引用
收藏
页码:202 / 205
页数:4
相关论文
共 50 条
  • [21] TARGETED GENE THERAPY IN THE TREATMENT OF X-LINKED HYPER-IgM SYNDROME
    Kuo, Caroline Y.
    Hoban, Megan D.
    Joglekar, Alok V.
    Kohn, Donald B.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (03) : 322 - 323
  • [22] Visceral Leishmaniasis May Unmask X-linked Hyper-IgM Syndrome
    Luis Ignacio Gonzalez-Granado
    Nerea Dominguez-Pinilla
    Fernando Gallego-Bustos
    Jesús Ruiz-Contreras
    Luis M. Allende
    Journal of Clinical Immunology, 2016, 36 : 363 - 365
  • [23] Visceral Leishmaniasis May Unmask X-linked Hyper-IgM Syndrome
    Ignacio Gonzalez-Granado, Luis
    Dominguez-Pinilla, Nerea
    Gallego-Bustos, Fernando
    Ruiz-Contreras, Jesus
    Allende, Luis M.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (04) : 363 - 365
  • [24] Targeted gene therapy in the treatment of X-linked hyper-IgM syndrome
    Kuo, C. Y.
    Long, J. D.
    Campo, B.
    Hoban, M. D.
    Joglekar, A. V.
    Romero, Z.
    Hollis, R. P.
    Kohn, D. B.
    HUMAN GENE THERAPY, 2016, 27 (11) : A41 - A41
  • [25] Targeted Gene Therapy in the Treatment of X-Linked Hyper-IgM Syndrome
    Kuo, Caroline Y.
    Hoban, Megan D.
    Joglekar, Alok V.
    Kohn, Donald B.
    MOLECULAR THERAPY, 2014, 22 : S36 - S36
  • [26] Targeted Gene Therapy in the Treatment of X-Linked Hyper-Igm Syndrome
    Kuo, Caroline Y.
    Joglekar, Alok V.
    Kohn, Donald B.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (03) : 362 - 362
  • [27] Targeted Gene Insertion for the Treatment of X-Linked Hyper-IgM Syndrome
    Kuo, Caroline Y.
    Long, Joseph D.
    Campo-Fernandez, Beatriz
    de Oliveira, Satiro
    Cooper, Aaron R.
    Romero, Zulema
    Hoban, Megan D.
    Joglekar, Alok V.
    Lill, Georgia R.
    Kaufman, Michael L.
    Fitz-Gibbon, Sorel
    Wang, Xiaoyan
    Hollis, Roger P.
    Kohn, Donald B.
    MOLECULAR THERAPY, 2018, 26 (05) : 373 - 373
  • [28] A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency
    Ostenstad, B
    Giliani, S
    Mellbye, OJ
    Nilsen, BR
    Abrahamsen, T
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 1997, 107 (02): : 230 - 234
  • [29] DISSEMINATED CUTANEOUS WARTS IN X-LINKED HYPER-IGM SYNDROME: A CASE REPORT
    Ho, H.
    Cunningham-Rundles, C.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2017, 119 (05) : S69 - S69
  • [30] Progressive multifocal leukoencephalopathy complicating X-linked hyper-IgM syndrome in an adult
    Suzuki, Hitoshi
    Takahashi, Yoshitomo
    Miyajima, Hiroaki
    INTERNAL MEDICINE, 2006, 45 (20) : 1187 - 1188