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Article

Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.

American journal of hematology - 1 Dec 2007

Muralitharan Shanmugakonar, Wali Yasser A, Dennison David, Lamki Zakia A, Zachariah Mathew, Nagwa El Banna, Pathare Anil, Krishnamoorthy Rajagopal

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive immune disorder, characterized by fever, hepatosplenomegaly, pancytopenia, hypertriglyceridemia, hypofibrinogenemia, markedly elevated levels of inflammatory cytokines, and impaired cytotoxic activity of lymphocytes. FHL is often fatal in early infancy. Histologic features include organ infiltration by activated macrophages and...

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Share to Chromosome Mapping
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lymphohistiocytosis, Hemophagocytic

Share to Perforin

Share to Polymorphism, Single Nucleotide

Share to Sequence Deletion

Source

Identifiers

PMID: 17674359
DOI: 10.1002/ajh.21009

Genes

FHL1
FHL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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