Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

Classification according to ICD-10
D84.8	Other specified immunodeficiencies
ICD-10 online (WHO version 2019)

The immunodeficiency caused by interleukin-1 receptor-associated kinase-4 deficiency (IRAK4 deficiency) is a very rare congenital disease with an immunodeficiency and a tendency to infections with pyogenic bacteria .

The first description comes from 1998 by the US doctors Soichi Haraguchi and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far only 8 families have been described. Inheritance is autosomal - recessive .

root cause

The disease are mutations in IRAK4 - gene on chromosome 12 locus q12 based on which Toll interleukin-1 (TIR) signal transduction pathway is involved.

Clinical manifestations

Clinical criteria are:

Onset of illness in childhood
Infections pneumoniae Streptococcus or Staphylococcus aureus
Pneumonia , pyarthrosis , cellulitis , osteomyelitis , otitis media , meningitis and sinusitis

diagnosis

The main symptom is recurrent purulent infections without the corresponding antibody formation . The diagnosis can be confirmed by detecting the mutations and by a reduced response of blood cells and fibroblasts to stimulation with various interleukin-1 receptor (IL-1R) and toll-like receptor (TLR) ligands.

Differential diagnosis

The following are to be distinguished:

Leukocyte adhesion defect
Job Syndrome (Hyper-IgE Syndrome)
Septic Granulomatosis (Chronic Granulomatosis)

Prospect of healing

The prognosis is favorable because the number of infections decreases with age.

literature

KS Gobin, M. Hintermeyer, B. Boisson, M. Chrabieh, P. Ghandil, A. Puel, C. Picard, JL Casanova, J. Routes, J. Verbsky: Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. In: Frontiers in pediatrics. Volume 6, 2018, p. 42, doi: 10.3389 / fped.2018.00042 , PMID 29531937 , PMC 5841209 (free full text).
Y. Yuan, H. Gan, J. Dai, H. Zhou, W. Deng, J. Zong, Z. Bian, H. Liao, H. Li, Q. Tang: IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. In: International journal of clinical and experimental medicine. Volume 8, number 11, 2015, pp. 20434-20443, PMID 26884959 , PMC 4723804 (free full text).

Individual evidence

↑ ^a ^b ^c ^d ^e ^f Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency. In: Orphanet (Rare Disease Database).
↑ S. Haraguchi, NK Day, RP Nelson, P. Emmanuel, JE Duplantier, CS Christodoulou, RA Good: Interleukin 12 deficiency associated with recurrent infections. In: Proceedings of the National Academy of Sciences . Volume 95, Number 22, October 1998, pp. 13125-13129, PMID 9789052 , PMC 23732 (free full text).
↑ IRAK4 deficiency. In: Online Mendelian Inheritance in Man . (English)

Web links

[Orpha-1] ↑ ^a ^b ^c ^d ^e ^f Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency. In: Orphanet (Rare Disease Database).

[2] S. Haraguchi, NK Day, RP Nelson, P. Emmanuel, JE Duplantier, CS Christodoulou, RA Good: Interleukin 12 deficiency associated with recurrent infections. In: Proceedings of the National Academy of Sciences . Volume 95, Number 22, October 1998, pp. 13125-13129, PMID 9789052 , PMC 23732 (free full text).

[3] IRAK4 deficiency. In: Online Mendelian Inheritance in Man . (English)