CD40LG + HLA
Deellabo: | PGD DNA |
Gen (Gen Code): | CD40LG + HLA |
Aliases Gen: | IGM; IMD3; TRAP; gp39; CD154; CD40L; HIGM1; T-BAM; TNFSF5; hCD40L; CD40LG |
Gen ID (NCBI): | 959 |
OMIM Gen ID: | 300386 |
Chromosomale locatie: | Xq26.3 |
Genetische aandoening / Analyse: | Hyper IgM syndroom |
OMIM aandoening ID: | 308230 |
Overerving: | X-linked R |
Opmerking 1: | * If the affected child has been transplanted with bone marrow, we cannot use the blood for DNA extraction. DNA from blood taken before transplantation or a sample from an other tissue (non-haematopoietic) will be necessary. |
Aliases aandoening: | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 HYPER-IgM IMMUNODEFICIENCY, X-LINKED; XHIM HYPER-IgM SYNDROME 1 HYPER-IgM SYNDROME; HIGM; IHIS |