Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D

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VAHIDI MARYAM; BADALZADEH MOHSEN; Jannesar Masoomeh; Mazinani Marzieh; FAZLOLLAHI MOHAMMAD REZA; Khodayari Namini Nazanin; houshmand Masood; HAMIDIEH AMIR ALI; MORADI LEILA; POURPAK ZAHRA; MOIN MOSTAFA

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Journal: Iranian Journal of Allergy, Asthma and Immunology Year:2019 | Volume:18 | Issue:5 Page(s): 487-492

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Title

Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D

Author(s)

Keywords

FHL3

Haemophagocytic lymphohistiocytosis

UNC13D

Abstract

Familial Haemophagocytic lymphohistiocytosis (FHL) is a rare disorder of immune dysregulation. FHL inherited in an autosomal recessive pattern is classified into five subtypes based on underlying genetic defects. Mutations in four genes including PRF1, UNC13D, STX11 and STXBP2 are responsible for FHL2 to FHL5 respectively. The cause of FHL1 is associated with mutations in an unknown gene located at 9q21. 3-22. This study aims to report the clinical features and genetic results of nine Iranian patients suffering from-Haemophagocytic lymphohistiocytosis. Nine patients (five males and four females) suspected to FHL whose genetic evaluation of PRF1 and STX11 revealed no mutations, were entered the study to investigate UNC13D mutations. Primers were designed to amplify all coding regions and exon-intron boundaries of the gene. PCR products were then sequenced and analyzed by sequence analysis tools including BLAST. The most frequent clinical manifestations observed in the patients were fever and hepatosplenomegaly. In this study, five mutations were detected in UNC13D including four novel mutations (c. 1434_1446delACCCATGGTGCAGinsTGGTGCT, c. 1933C>T, c. 1389+1G>C and c. 2091+1G>A) besides to a previously reported deletion (c. 627delT). The pathogenicity of the missense mutation was assessed using online prediction tools including SIFT and PolyPhen2. The study results may provide valuable information for genetic counseling especially for those who have a history of immunodeficiency diseases in their family and can be used for prenatal diagnosis.

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APA: Copy

VAHIDI, MARYAM, BADALZADEH, MOHSEN, Jannesar, Masoomeh, Mazinani, Marzieh, FAZLOLLAHI, MOHAMMAD REZA, Khodayari Namini, Nazanin, houshmand, Masood, HAMIDIEH, AMIR ALI, MORADI, LEILA, POURPAK, ZAHRA, & MOIN, MOSTAFA. (2019). Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D. IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), 18(5), 487-492. SID. https://sid.ir/paper/758415/en

Vancouver: Copy

VAHIDI MARYAM, BADALZADEH MOHSEN, Jannesar Masoomeh, Mazinani Marzieh, FAZLOLLAHI MOHAMMAD REZA, Khodayari Namini Nazanin, houshmand Masood, HAMIDIEH AMIR ALI, MORADI LEILA, POURPAK ZAHRA, MOIN MOSTAFA. Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D. IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI)[Internet]. 2019;18(5):487-492. Available from: https://sid.ir/paper/758415/en

IEEE: Copy

MARYAM VAHIDI, MOHSEN BADALZADEH, Masoomeh Jannesar, Marzieh Mazinani, MOHAMMAD REZA FAZLOLLAHI, Nazanin Khodayari Namini, Masood houshmand, AMIR ALI HAMIDIEH, LEILA MORADI, ZAHRA POURPAK, and MOSTAFA MOIN, “Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D,” IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), vol. 18, no. 5, pp. 487–492, 2019, [Online]. Available: https://sid.ir/paper/758415/en

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