Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers

O’Gorman, Maurice R.G.; Zaas, David; Paniagua, Mary C.; Corrochano, Virginia; Scholl, Paul; Pachman, Lauren M.

doi:10.1006/clin.1997.4422

Cited by 50 publications

(31 citation statements)

References 26 publications

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“…The diagnosis of XHIM was confirmed by demonstrating the absence of CD40L on mononuclear cells separated on Ficoll, stimulated for 4 hr with phorbol myristate acetate, 20 ng/mL, and then ionomycin, 1,000 ng/mL, and stained with CD3 and CD40L monoclonal antibodies, as described before [25]. Mutations in the CD40L gene were also demonstrated by single-strand conformation polymorphism analysis of individual exons of the CD40L gene and sequence of affected exon [26].…”

Section: Methodsmentioning

confidence: 88%

Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experience

et al. 2004

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X-linked hyper-IgM syndrome (XHIM), or hyper-IgM syndrome type 1 (HIGM1), is a rare primary immunodeficiency disorder susceptible to recurrent bacterial infection and opportunistic infection such as Pneumocystis carinii and Cryptosporidium parvum. The longterm outcome is quite poor, and allogeneic hematopoietic stem cell transplantation (HSCT) offers the only cure. Seven patients with XHIM, from age 3 to 19 years (mean 11.3 years), underwent allogeneic HSCT in our institution. Details of pre-and post-transplantation data and transplantation procedure were analyzed retrospectively. The donors were HLA-identical siblings for three patients and HLA-identical unrelated donors for four patients. All but one received conventional conditioning regimen consisting of busulfan and cyclophosphamide and prophylaxis for graft-versus-host disease (GVHD) consisting of cyclosporine and methotrexate. Five out of seven patients are alive and well with normal CD40L expression, and four of these five are free of intravenous immunoglobulin supplementation. The two patients who died had prolonged episodes of severe and recurrent infections and organ damage. We conclude that conventional allogeneic HSCT from HLA matched related or unrelated donors is curative and feasible for XHIM patients, if performed before significant infections and organ damage occur. For the high-risk patients, an alternative approach including nonmyeloablative HSCT may be more feasible. Am.

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Section: Methodsmentioning

confidence: 88%

Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experience

et al. 2004

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“…T cells: T cell activation was performed according to experiments previously described (25). Briefly, whole blood was diluted 1:5 in RPMI medium (Gibco by Life Technologies, Grand Island, NE).…”

Section: In Vitro Cell Activationmentioning

confidence: 99%

Immunophenotypic Profile and Increased Risk of Hospital Admission for Infection in Infants Born to Female Kidney Transplant Recipients

Ono

Santos

Viana

et al. 2015

American Journal of Transplantation

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“…A three-color whole-blood flow cytometric assay originally developed in our laboratory as a diagnostic screening test for XHIM-1 was used to study CD154 expression on resting and activated peripheral blood T cells (28). Briefly, heparin-anticoagulated whole blood was diluted with culture medium alone (RPMI) or culture medium containing phorbol myristate acetate (PMA; 15 ng/ml; Sigma, St. Louis, Mo.)…”

Section: Evaluation Of Cd154 (Cd40l) Expressionmentioning

confidence: 99%

Abnormal CD40 Ligand (CD154) Expression in Human Immunodeficiency Virus-Infected Children

O’Gorman

DuChateau

Paniagua

et al. 2001

Clin Diagn Lab Immunol

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Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers

Cited by 50 publications

References 26 publications

Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experience

Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experience

Immunophenotypic Profile and Increased Risk of Hospital Admission for Infection in Infants Born to Female Kidney Transplant Recipients

Abnormal CD40 Ligand (CD154) Expression in Human Immunodeficiency Virus-Infected Children

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