Marzieh Tavakol, Iran
Alborz University of Medical Sciences Allergy and Clinical ImmunologyPresenter of 1 Presentation
A PATIENT WITH JAK3 DEFICIENCY AND OMENN SYNDROME MANIFESTATIONS
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.