Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations

Leukemia Research
Hamza OkurA Gürgey

Abstract

The aim of this study was to elucidate the pathologic sequence changes and associated clinical phenotypes in 9 new patients showing homozygosity for perforin gene among a total of 37 (24%) Turkish FHL families studied by linkage analysis. These 9 unrelated patients (5M/4F) were coming from consanguineous families and their presentation ages of systemic symptoms were ranged from birth to 15 years. Direct sequencing of coding exons of the perforin gene led to the identification of five different homozygous alterations. The nonsense W374X mutation was identified in three patients while four different missense mutations namely G149S, V50M, A91V and novel A523D were detected in the rest six patients.

References

Apr 1, 1984·The Journal of Pediatrics·N PerezC Griscelli
Jan 24, 2004·Blood·Rosanna BusielloClaudio Pignata
Jun 30, 2004·Journal of Perinatology : Official Journal of the California Perinatal Association·Colleen Ann MalloyMalliswari Challapalli
Apr 14, 2006·International Journal of Immunogenetics·R BusielloC Pignata
Aug 29, 2006·Pediatric Blood & Cancer·Jan-Inge HenterGritta Janka

❮ Previous
Next ❯

Citations

Jan 18, 2012·Annals of Hematology·Yini WangXiaolin Wang
Jan 10, 2009·Journal of Pediatric Hematology/oncology·Aytemiz GurgeyMurat Yurdakok
Apr 6, 2013·Journal of Pediatric Neurosciences·Muge GokceFatma Gumruk
Oct 22, 2014·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Perihan Yasemen CanozMehmet Turgut
Dec 3, 2010·Journal of Crohn's & Colitis·Nuray UsluAysel Yüce
Nov 30, 2010·Journal of Immunological Methods·Theodore S JohnsonJack J Bleesing
May 26, 2009·Leukemia Research·Ahmet Faik OnerAytemiz Gurgey
Jun 12, 2010·Immunological Reviews·Ilia VoskoboinikJoseph A Trapani
Oct 6, 2011·Pediatric Hematology and Oncology·M GokceA Tokatlı
Nov 21, 2017·Clinical Case Reports·Sarah BenezechAlexandre Belot
May 23, 2015·Nature Reviews. Immunology·Ilia VoskoboinikJoseph A Trapani
Sep 29, 2020·Journal of Clinical Immunology·Fahad AlsohimeYousef Mohammed Hawsawi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.