Marzieh Tavakol, Iran

Alborz University of Medical Sciences Allergy and Clinical Immunology

Presenter Of 1 Presentation

Poster Display T Cell Biology

A PATIENT WITH JAK3 DEFICIENCY AND OMENN SYNDROME MANIFESTATIONS

Lecture Time
10:10 - 10:11
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
169
Presentation Topic
T Cell Biology

Abstract

Background and Aims

Severe Combined Immunodeficiency is an uncommon but most serious form of primary immunodeficiencies. Mutations in genes that encode proteins necessary for the development of the immune recognition receptors on T and B-lymphocytes calles ,recombinase activating genes 1 and 2 (RAG1 and RAG2) lead to a very rare type of SCID known as Omenn syndrome.

Methods

A 11 month old girl who was admitted because of aphthous stomatitis and diarrhea. On examination, the patient's skin was dry and the patient was suffering from severe respiratory distress and stridor that improved by nebulized bronchodilator. Laboratory studies reported that the patient was B negative, T negative and because of severe dermatitis with leukocytosis was diagnosed as Omenn syndrome. Patient frequently refered to hospital due to diarrhea, and suffer from severe FTT. The patient eventually died due to the severity of symptoms.

Results

Genetic investigations showed the mutation in gene JAK3.

Conclusions

This is a very interesting conflict between the genetic results and clinical symptoms of two different types of SCID.

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