RGD Reference Report - Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. - Rat Genome Database

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Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand.

Authors: Jain, A  Kovacs, JA  Nelson, DL  Migueles, SA  Pittaluga, S  Fanslow, W  Fan, X  Wong, DW  Massey, J  Hornung, R  Brown, MR  Spinner, JJ  Liu, S  Davey, V  Hill, HA  Ochs, H  Fleisher, TA 
Citation: Jain A, etal., Blood. 2011 Aug 12.
RGD ID: 5490298
Pubmed: PMID:21841160   (View Abstract at PubMed)
PMCID: PMC3193261   (View Article at PubMed Central)
DOI: DOI:10.1182/blood-2011-04-351254   (Journal Full-text)

X-linked hyper IgM syndrome (XHM) is a combined immune deficiency disorder caused by genetic alterations in CD40 ligand. The purpose of this study was to investigate the safety and efficacy of recombinant CD40 ligand (rCD40L) in the treatment of the disease. Three children were administered rCD40L subcutaneously three times per week at 0.03 mg/kg for 22 weeks, and after a 12 week drug free interval, the dose was increased to 0.05 mg/kg for an additional 22 weeks of treatment. Although specific antibody responses to T cell dependant antigens was lacking, administration of rCD40 resulted in acquisition of the capacity to mount cutaneous delayed type hypersensitivity reactions that disappeared during the drug free interval as well as the post-biologic follow-up period. With rCD40L treatment, patient T cells developed a new capacity to respond to T cell mitogens with synthesis of IFN-gamma and TNF-alpha. Intracellular cytokine staining studies showed that both CD4+ and CD8+ T cells participated in this response. Finally, CD40L therapy was associated with changes in lymph node size and architecture based on comparison of biopsies taken before and after therapy. This clinical study showed that rCD40L is capable of improving T cell immune function in patients with XHM.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CD40LGHumanCD40 ligand deficiency  IDA  RGD 
Cd40lgRatCD40 ligand deficiency  ISOCd40lg (Mus musculus) and CD40LG (Homo sapiens) RGD 
Cd40lgMouseCD40 ligand deficiency disease_progressionIDA  RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cd40lg  (CD40 ligand)

Genes (Mus musculus)
Cd40lg  (CD40 ligand)

Genes (Homo sapiens)
CD40LG  (CD40 ligand)


Additional Information