Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.

Main Article Content

Kanjaksha Ghosh *
Kanchan Mishra
Avani Shah
Parizad Patel
Shrimati Shetty
(*) Corresponding Author:
Kanjaksha Ghosh | kanjakshaghosh@hotmail.com

Abstract

An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any paroxysmal attack of the kind.  Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been reported in the literature and is the first such case of NLRP12 related autoinflammatory syndrome from India.


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Article Details

Author Biographies

Kanjaksha Ghosh, National Institute Of Immunohaematology. ( ICMR )

Director

National Institute of Immunohaematology

13 th Fl KEM Hospital, parel

Mumbai 400012

India

Kanchan Mishra

AssistantDirector

Stem Cell and Mol Biology

Surat raktadan & Research Centre

Avani Shah

Senior Research Fellow,

Indian Council Of Medical Research

Surat raktadan Kendra & Research Centre

Parizad Patel

Senior Research Fellow

Surat raktadan Kendra & Research  Centre

Shrimati Shetty

Deputy Director

National Institute of Immunohaematology

Parel, Mumbai , India.

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