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DysgammaglobulinemiaAcquired Immunodeficiency SyndromeHyper-IgM Immunodeficiency Syndrome, Type 1HypergammaglobulinemiaSyndromeHyper-IgM Immunodeficiency SyndromeImmunologic Deficiency SyndromesImmunoglobulin MMurine Acquired Immunodeficiency SyndromeCD40 LigandHIV-1Ehlers-Danlos SyndromeJob SyndromeHIV InfectionsUsher SyndromesOrofaciodigital SyndromesSimian immunodeficiency virusX ChromosomeHIVPolyendocrinopathies, AutoimmuneAIDS-Related Opportunistic InfectionsSimian Acquired Immunodeficiency SyndromeReflex Sympathetic DystrophyAIDS-Related ComplexAntigens, CD40Waardenburg SyndromeFeline Acquired Immunodeficiency SyndromeImmunodeficiency Virus, FelineCrigler-Najjar SyndromeHomosexualitySevere Combined ImmunodeficiencyMolecular Sequence DataT-LymphocytesMutationMucopolysaccharidosis IIIHermanski-Pudlak SyndromeHIV SeropositivityZidovudineAnti-HIV AgentsCommon Variable ImmunodeficiencyCD4 Lymphocyte CountPneumonia, PneumocystisHIV AntibodiesCongenital Disorders of GlycosylationVirus ReplicationLymphoma, AIDS-Relatedtat Gene Products, Human Immunodeficiency VirusBase SequenceMevalonate Kinase DeficiencyHIV AntigensAntiretroviral Therapy, Highly ActiveHIV-2Phosphotransferases (Phosphomutases)DeltaretrovirusAmino Acid SequenceHIV Envelope Protein gp120PedigreePolymerase Chain ReactionSarcoma, KaposiMacaca mulattaRNA, ViralHIV Core Protein p24Gene Products, gagViral LoadDNA Mutational AnalysisCytomegalovirus RetinitisOpportunistic InfectionsImmunoglobulin GAbnormalities, MultipleDown SyndromeAntigens, CD4CD4-Positive T-LymphocytesCell LineDNA, ViralMetabolic Syndrome XAddison DiseaseRetinitis PigmentosaCells, CulturedReverse Transcriptase InhibitorsPhenotypeB-LymphocytesLong QT SyndromeFatal OutcomeRetroviridae InfectionsToxoplasmosis, CerebralHyperthyroidismAntibodies, ViralHearing Loss, SensorineuralBartter SyndromeHIV Reverse TranscriptaseImmunoglobulin EImmunoglobulin DLymphatic DiseasesGene Products, envnef Gene Products, Human Immunodeficiency VirusRetroviridae ProteinsMannose-6-Phosphate IsomeraseHIV SeronegativityCardio-Renal SyndromeLanger-Giedion Syndrome

Osteopenia in X-linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis. (1/8)

We report that osteopenia is a prominent and previously unappreciated clinical feature of patients with X-linked hyper-IgM syndrome, an inherited immune deficiency disorder caused by mutations in the gene encoding CD40 ligand (CD40L). We therefore conducted studies to determine the relationship between CD40L and osteoclastogenesis. Recognizing that activated T cells express surface receptor activator of NF-kappaB ligand (RANKL) and can induce osteoclast differentiation of myeloid cells expressing RANK, we assessed the capacity of wild-type T cells and CD40L(-/-) T cells to induce osteoclastogenesis in vitro. Relative to wild-type T cells, activated CD40L(-/-) T cells from both humans and mice promoted robust osteoclast differentiation of myeloid cells. Whereas activated CD40L(-/-) T cells had normal expression of RANKL, they were deficient in IFN-gamma production. In subsequent studies, we cultured activated CD40L(-/-) T cells in the presence of IFN-gamma, and we found that the osteoclastic capacity of CD40L(-/-) T cells could be greatly diminished. These results show that CD40L can influence RANKL signaling through T cell priming, and thus they demonstrate a regulatory role for CD40L in bone mineralization that is absent in patients with X-linked hyper-IgM syndrome.  (+info)

Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting. (2/8)

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Impaired maintenance of naturally acquired T-cell memory to the meningococcus in patients with B-cell immunodeficiency. (3/8)

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CD40 ligand deficiency: neurologic sequelae with radiographic correlation. (4/8)

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Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. (5/8)

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CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. (6/8)

X-linked Hyper IgM is characterized by an absence of the CD40 ligand on activated T lymphocytes resulting in defects of both cellular and humoral immunity. Patients usually present with recurrent bacterial and opportunistic infections. Chronic liver disease is seen in about 75% of patients as a complication. Here, we report a 3.5-year-old boy with X-linked Hyper IgM referred to our clinic for bone marrow transplant. He was transplanted from an HLA-identical sibling donor using a new conditioning agent, treosulphan, together with cyclophosphamide. Since 6 months of age, he has had recurrent respiratory infections, and his XHIGM was diagnosed when he was 1.5 years old. The diagnosis was confirmed by sequence analysis of the CD40L gene. On physical examination, growth failure, bilateral fine crackles in both lungs, and hepatosplenomegaly were detected. The results of his liver function tests were abnormal, and a liver biopsy showed grade III fibrosis and compensated cirrhosis. After conditioning with treosulphan (12 g/m(2)/d x 3 d) and cyclophosphamide (50 mg/kg/d x 4 d), bone marrow from his HLA-identical sister was infused. CD40L expression on activated lymphocytes of the patient was 84% on day +21. His posttransplant period was uneventful. He is now at posttransplant 2 years, with full donor chimerism, and mild, chronic, graft-versus-host disease on his tongue. In conclusion, treosulphan is a new agent for conditioning regimen with less toxicity in patients with severe liver disease.  (+info)

The role of CD40/CD40 ligand interactions in bone marrow granulopoiesis. (7/8)

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CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome. (8/8)

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