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Familial Haemophagocytic Lymphohistiocytosis (familial + haemophagocytic_lymphohistiocytosi)

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Medical Sciences	100%

Selected Abstracts

Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 4 2007
K. Zhang
Summary The heterozygous A91V mutation in PRF1 is identified more frequently in patients with familial haemophagocytic lymphohistiocytosis (FHLH) than in healthy individuals in North America. Additional mutation(s) in either Munc13-4 or PRF1 were found in 10 of 24 patients with FHLH who are heterozygous for A91V. A91V- PRF1 by itself is not disease causing. [source]

Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis

BRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2005
AnnaCarin Horne
Summary Haemophagocytic lymphohistiocytosis (HLH) poses major therapeutic challenges, and the primary inherited form, familial haemophagocytic lymphohistiocytosis (FHL), is usually fatal. We evaluated, including Cox regression analysis, survival in 86 children (29 familial) that received HLH-94-therapy (etoposide, dexamethasone, ciclosporin) followed by allogeneic stem cell transplantation (SCT) between 1995 and 2000. The overall estimated 3-year-survival post-SCT was 64% [confidence interval (CI) = ±10%] (n = 86); 71 ± 18% in those patients with a matched related donor (MRD, n = 24), 70 ± 16% with a matched unrelated donor (MUD, n = 33), 50 ± 24% with a family haploidentical donor (haploidentical, n = 16), and 54 ± 27% with a mismatched unrelated donor (MMUD, n = 13). After adjustment for potential confounding factors, estimated odds ratios (OR) for mortality were 1·93 (CI =0·61,6·19) for MUD, 3·31 (1·02,10·76) for haploidentical, and 3·01 (0·91,9·97) for MMUD, compared with MRD. In children with active disease after 2-months of therapy (n = 43) the OR was 2·75 (1·26,5·99), compared with inactive disease (n = 43). In children with active disease at SCT (n = 37), the OR was 1·80 (0·80,4·06) compared with inactive disease (n = 49), after adjustment for disease activity at 2-months. Mortality was predominantly transplant-related. Most HLH patients survived SCT using MRD or MUD, and survival with partially mismatched donors was also acceptable. Patients that responded well to initial pretransplant-induction therapy fared best, but some persisting HLH activity should not automatically preclude performing SCT. [source]

Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis

ACTA PAEDIATRICA, Issue 3 2003
E Del Giudice
This study reports the first paediatric case of acute inflammatory demyelinating polyradiculoneuropathy (AIDP) associated with a fatal haemophagocytic lymphohistiocytosis (HLH). The patient developed progressive weakness of the lower limbs in the context of a picture of infectious mononucleosis and Epstein-Barr virus (EBV) infection. After an apparent improvement, a fulminant hepatic failure and pancytopenia ensued, leading to death. Molecular genetic studies documented a compound heterozygosity for two mutations in the perforin (PRF1) gene as the background defect for a familial haemophagocytic lymphohistiocytosis (FHL). Conclusion: In this patient EBV infection triggered both AIDP and FHL. The latter condition was due to PRF1 deficiency. Two novel mutations in the PRF1 gene were concomitantly present in the patient. The first caused an amino acid change, while the second introduced a stop codon in the sequence which resulted in a truncated protein. [source]