Efimia Papadopoulou-Alataki, Greece

Aristotle University of Thessaloniki Pediatrics

Presenter of 1 Presentation

Poster Display Innate Immunity

IDENTIFICATION OF A HETEROZYGOUS VARIANT IN THE IRAK-4 GENE IN A 17-YEAR OLD FEMALE PATIENT

Lecture Time
10:08 - 10:09
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
149
Presentation Topic
Innate Immunity

Abstract

Background and Aims

IRAK-4 is an active kinase associated with the IL1 receptor. It is involved in the signaling pathway of the cellular activation in response to Toll like receptor (TLR) agonists and the IL-1/IL-18 superfamily. Irak-4 deficiency is an autosomal recessive defect of innate immunity. We report a 17-year old female patient with recurrent infections and numerous hospitalizations since the age of 3 years. At the age of 7 years she was investigated for recurrent bacterial infections affecting the skin (Staphylococcus aureus) and the respiratory tract such as sinusitis, otitis media and mastoiditis (S. pneumoniae). She was also diagnosed with intellectual disability within autism spectrum, obesity and hypothyroidism. Her immunological investigation was normal except low immunoglobulin levels (IgG=717mg/dl, IgA=26,60mg/dl, IgM=50,80mg/dl). A prophylactic administration of immunoglobulins was started and lasted 5 years resulting in significant reduction of infections. Since the age of 12 years she is no longer suffering from infections and her immunoglobulin levels are normal.

Methods

Whole exome sequencing was performed on the patient. DNA-analysis was done using Otogenetics Corporation (USA). IRAK4-gene expression was assessed with qRT-PCR.

Results

Whole exome sequencing analysis revealed a heterozygous variant in the patient: c.823delT (p.S275fs*13) in IRAK-4 gene.

Conclusions

IRAK-4 should be considered among patients with unclassified primary immunodeficiency. The diagnosis is confirmed by IRAK-4 gene sequencing. Clinical outcome improves with age. Prophylactic treatment with immunoglobulins is recommended until the teenage years.

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