Shabnam Eskandarzadeh, Iran

Shahid Beheshti University of Medical Sciences Allergy and Clinical Immunology

Presenter Of 1 Presentation

Poster Display Autoinflammation

A CASE REPORT OF NF-ΚB2 MUTATION IN A CVID PATIENT

Lecture Time
10:00 - 10:01
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
5
Presentation Topic
Autoinflammation

Abstract

Background and Aims

NF-κB plays critical roles in the development and function of the immune system , skeletal system, and epithelium, including intestinal epithelium. NFκB has important roles in vasculogenesis, angiogenesis, and development of the lymphatic system too. Dysregulation of NF-κB function is known to underlie numerous pathological processes, including immune deficiency, autoimmune diseases, cancer, cardiovascular disease, and a variety of other inflammatory-mediated diseases.

Methods

We report a patient with mutation in NF-κB2 gene.

We report a 11-year-old boy from non-consanguineous parents who presented to our clinic with history of chronic cough since 4 months old. he also had history of alopecia, oral aphtus lesions and recurrent sinusitis too. he was healthy otherwise until 9-year-old.

At nine years old his clinical picture complicated with left hemiparesis due to brain stroke. All of coagulation and rheumatologic tests were normal.

His immunological study shows decreased level of IgM, IgA levels and antibody response and increased CD3 and CD4 based on age reference values. Other immunologic tests were normal .

Due to recurrent sinusitis and poor antibiotic response we planned to treat him with IVIG and prophylactic antibiotics.

Unfortunately, before beginning of IVIG treatment he admitted to another hospital with fever, vomiting, diarrhea and seizure and expired.

Results

His whole exome sequencing detected pathogenic heterozygous nonsense variant in NF-κB2 gene at Exon 22.

Conclusions

Clinical Presentation of our patient shows that primary immune deficiency patients may have wide spectrum of clinical signs and symptoms.

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