Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.

Mhatre, Snehal; Madkaikar, Manisha; Desai, Mukesh; Ghosh, Kanjaksha

Mhatre, Snehal; Madkaikar, Manisha; Desai, Mukesh; Ghosh, Kanjaksha.

Affiliation

Mhatre S; National Institute of Immunohaematology, 13th floor KEM Hospital, Parel, Mumbai 400012, India.
Madkaikar M; National Institute of Immunohaematology, 13th floor KEM Hospital, Parel, Mumbai 400012, India. Electronic address: madkaikarmanisha@gmail.com.
Desai M; Department of Immunology, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai 400012, India.
Ghosh K; National Institute of Immunohaematology, 13th floor KEM Hospital, Parel, Mumbai 400012, India.

Blood Cells Mol Dis ; 54(3): 250-7, 2015 Mar.

Article in En | MEDLINE | ID: mdl-25577959

Subject(s)

Lymphohistiocytosis, Hemophagocytic/diagnosis; Lymphohistiocytosis, Hemophagocytic/genetics; Mutation; Perforin/genetics; Adolescent; Adult; Asian People/genetics; Child; Child, Preschool; Female; Humans; India/epidemiology; Infant; Infant, Newborn; Killer Cells, Natural/metabolism; Killer Cells, Natural/pathology; Lymphohistiocytosis, Hemophagocytic/epidemiology; Lymphohistiocytosis, Hemophagocytic/pathology; Male; Mutation, Missense; Prenatal Diagnosis; Young Adult

Key words

FHL; Genotyephenotype correlation; Molecular studies; Perforin gene; Pre-natal diagnosis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lymphohistiocytosis, Hemophagocytic / Perforin / Mutation Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Asia Language: En Journal: Blood Cells Mol Dis Journal subject: HEMATOLOGIA Year: 2015 Type: Article Affiliation country: India

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