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

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