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)