Correction of the Hyper-IgM Syndrome after Liver and Bone Marrow Transplantation

Hadžić, Nedim; Pagliuca, Antonio; Rela, Mohammed; Portmann, Bernard; Jones, A; Veys, Paul; Heaton, Nigel; Mufti, Ghulam J.; Mieli‐Vergani, Giorgina

doi:10.1056/nejm200002033420504

Cited by 93 publications

(15 citation statements)

References 22 publications

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“…In the present series a non-myeloablative HSCT, performed 5 weeks after LT for end-stage SC, was successful. 21 The long-term prognosis of SC in children with PIDs after HSCT is unknown. Two of our patients with cholangiopathy before HSCT have normalized liver tests and cleared CSP infection after T-cell engraftment, but they have persistent bile duct dilatation on ultrasonography.…”

Section: Discussionmentioning

confidence: 99%

“…20 The postoperative management of patients with PIDs has been described previously. 21,22 Before 1998, conventional HSCT was performed after myeloablative conditioning with busulphan and cyclophosphamide. GvHD prophylaxis included methotrexate and cyclosporin A, according to standard protocols.…”

Section: Methodsmentioning

confidence: 99%

“…A successive LT and HSCT proved curative in patient 27, who had hyper-IgM syndrome as a result of CD40LD and endstage liver disease secondary to SC. 21 Seventeen patients received HSCT. Conventional HSCT was performed in 6 patients at a median age of 12.1 years (range, 4.2-16.5).…”

Section: Treatment and Outcomementioning

confidence: 99%

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Liver disease in children with primary immunodeficiencies

Rodrigues

Davies²,

Jones³

et al. 2004

The Journal of Pediatrics

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Liver disease in children with primary immunodeficiencies

Rodrigues

Davies²,

Jones³

et al. 2004

The Journal of Pediatrics

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“…In a review of 38 patients in Europe, hematopoietic stem cell transplantation was curative in 58% of patients with XHIGM and it was successful in 72% of patients without preexisting hepatic disease [20]. Hadzic et al [21] reported successful liver transplantation together with nonmyeloablative bone marrow transplantation from a matched, unrelated donor in an 18-year-old male with XHIGM and end-stage liver disease. Umbilical stem cell infusions may also be curative [22, 23].…”

Section: Discussionmentioning

confidence: 99%

X-Linked Hyper-Immunoglobulin M Syndrome: Molecular Genetic Study and Long-Time Follow-Up of Three Generations of a Chinese Family

Lin

Shyur

Lee

et al. 2006

Int Arch Allergy Immunol

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Background: X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare immunodeficiency disease caused by mutations of the CD40 ligand gene. Patients are subject to recurrent infections and have normal or elevated levels of IgM but markedly decreased serum IgG. Objective: We describe molecular genetic studies and clinical manifestations in three generations of one family, as well as results of long-term treatment of 2 young men with the disorder. Methods: Of 37 living family members, mutational analysis of the CD40 ligand gene was performed in 36 members. Laboratory data for patients and carriers were reviewed. Results: Four male family members had died of unexplained causes. The 3 patients with XHIGM syndrome and the 5 carriers all had a novel mutation located at Tyr 169 Asn (T526A) in exon 5, the tumor necrosis factor domain of the CD40 ligand gene. In the 3 patients, CD40 ligand expression in activated CD4+ T cells was below 1%. In the carriers, about half of activated CD4+ cells expressed CD40 ligand. One carrier had malignant lymphoma. Long-term (>20 years) intravenous immunoglobulin therapy in 2 patients improved IgG levels but did not fully suppress the high levels of IgM, nor did it prevent late complications (bronchiectasis and sclerosing cholangitis). Conclusions: Diagnosis of a genetic immunodeficiency, especially an X-linked disease such as XHIGM syndrome, should prompt a survey of the entire family.

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“…47,48 Dual (prospectively planned) transplantation of HSCs and SOs (dual HSCT/SOT) was initially performed to treat both end-organ damage and hematologic disease, such as multiple myeloma with end-stage renal disease or hyper-immunoglobulin M syndrome with cholangiopathy. 49,50 Recently, this procedure has been used to induce graft tolerance in patients without underlying hematologic disease. [51][52][53] This approach allows HLA-mismatched grafting for transplantation by inducing durable or transient lymphohematopoietic chimerism in recipients without developing GVHD.…”

Section: Dual Transplantation Of Hscs and Sosmentioning

confidence: 99%

Toward dual hematopoietic stem-cell transplantation and solid-organ transplantation for sickle-cell disease

Hosoya

Levine

Abt³

et al. 2018

Blood Advances

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Sickle-cell disease (SCD) leads to recurrent vaso-occlusive crises, chronic end-organ damage, and resultant physical, psychological, and social disabilities. Although hematopoietic stem-cell transplantation (HSCT) is potentially curative for SCD, this procedure is associated with well-recognized morbidity and mortality and thus is ideally offered only to patients at high risk of significant complications. However, it is difficult to identify patients at high risk before significant complications have occurred, and once patients experience significant organ damage, they are considered poor candidates for HSCT. In turn, patients who have experienced long-term organ toxicity from SCD such as renal or liver failure may be candidates for solid-organ transplantation (SOT); however, the transplanted organs are at risk of damage by the original disease. Thus, dual HSCT and organ transplantation could simultaneously replace the failing organ and eliminate the underlying disease process. Advances in HSCT conditioning such as reduced-intensity regimens and alternative donor selection may expand both the feasibility of and potential donor pool for transplantation. This review summarizes the current state of HSCT and organ transplantation in SCD and discusses future directions and the clinical feasibility of dual HSCT/SOT.

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Correction of the Hyper-IgM Syndrome after Liver and Bone Marrow Transplantation

Cited by 93 publications

References 22 publications

Liver disease in children with primary immunodeficiencies

Liver disease in children with primary immunodeficiencies

X-Linked Hyper-Immunoglobulin M Syndrome: Molecular Genetic Study and Long-Time Follow-Up of Three Generations of a Chinese Family

Toward dual hematopoietic stem-cell transplantation and solid-organ transplantation for sickle-cell disease

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