article abstract

[Guest guest]

looking through my files for stuff-- thought you guys might be

interested in this.

Title: Correction of neutropenia and

hypogammaglobulinemia in X-linked hyper-IgM

syndrome by allogeneic bone marrow

transplantation.

Journal: Bone Marrow Transplant

Author(s): Scholl PR,O'Gorman MR,Pachman

LM,Haut P,Kletzel M

Article Heading: Bone Marrow Transplant 22:12

1215-8, 1998 Dec

Abstract: X-linked hyper-IgM (X-HIM) syndrome is

a primary immunodeficiency disease

characterized by defects in both cellular and

humoral immunity. X-HIM is caused by mutations

in the gene for CD40 ligand (CD40L), a T cell

membrane protein that mediates T

cell-dependent immune functions. We report

the case of a 6-year-old male with X-HIM due to

an intronic mutation resulting in aberrant

CD40L RNA splicing and absence of detectable

CD40L protein. The patient had a history of

multiple infectious complications and chronic

neutropenia requiring treatment with

recombinant granulocyte colony-stimulating

factor, and underwent allogeneic bone marrow

transplantation from an HLA-matched sibling

donor. Following successful engraftment, T cell

CD40L expression and immunoglobulin isotype

switching were reconstituted and neutropenia

resolved. Allogeneic bone marrow

transplantation can correct neutropenia and

reconstitute immune function in X-HIM.

MeSH Terms Used: Agammaglobulinemia, Bone

Marrow Transplantation, Child, IgM, Membrane

Glycoproteins, Mutation, Neutropenia,

Transplantation, Homologous, X Chromosome

Medline Number: 99110018

--

Peace Be With You!

~Pattie~ Mom to , 7; 4 3/4 (SDS,

hypogammaglobulinemia/CVID) and ph 3 1/2 (SDS)

" The friend who finds you when you might be lost is a very welcome

friend. " ~~Lessons from the Hundred-Acre Wood