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IMD67
MCID: IMM222
MIFTS: 41
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Immunodeficiency 67 (IMD67)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Immunodeficiency 67:
Characteristics:Orphanet epidemiological data:58
immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy or early childhood bacterial meningitis is often an initial infection high death rate before age 8 years the disease tends to abate with age treatment with ivig or prophylactic antibiotics may be beneficial HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Blood diseases Neuronal diseases Immune diseases
ICD10:
33
Orphanet: 58
Rare immunological diseases |
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OMIM® :
57
Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1, 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Ku et al., 2007; Picard et al., 2010; Grazioli et al., 2016).
See also IMD68 (612260), caused by mutation in the MYD88 gene (602170), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010). (607676) (Updated 05-Mar-2021)
MalaCards based summary : Immunodeficiency 67, also known as irak4 deficiency, is related to immunodeficiency 33 and leukocyte adhesion deficiency, type i. An important gene associated with Immunodeficiency 67 is IRAK4 (Interleukin 1 Receptor Associated Kinase 4). The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are immunodeficiency and neutropenia MedlinePlus Genetics : 43 IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age.Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe. GARD : 20 IRAK-4 deficiency is a condition that affects the immune system (primary immunodeficiency). It causes recurring severe infections by a type of bacteria called pyogenic bacteria. Individuals with IRAK-4 deficiency seem to be particularly susceptible to infections caused by bacteria called Streptococcus pneumoniae. The deficiency is caused by mutations in the IRAK4 gene and is inherited in an autosomal recessive pattern. Treatment may include intravenous immunoglobulin therapy (IVIG), taking antibiotics before an infection develops, and vaccines. Althought the infections can be life-threatening, they tend to occur less often as a person gets older. UniProtKB/Swiss-Prot : 73 Immunodeficiency 67: An autosomal recessive primary immunodeficiency characterized by recurrent, life-threatening systemic and invasive bacterial infections beginning in infancy or early childhood. |
Human phenotypes related to Immunodeficiency 67:58 31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:607676 (Updated 05-Mar-2021) |
Drugs for Immunodeficiency 67 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
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MalaCards organs/tissues related to Immunodeficiency 67:40
T Cells,
Nk Cells,
B Cells,
Spinal Cord,
Liver,
Neutrophil,
Myeloid
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Articles related to Immunodeficiency 67:(show all 32)
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Genes related to Immunodeficiency 67 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Immunodeficiency 67:6 (show top 50) (show all 134)
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 67:73
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Search
GEO
for disease gene expression data for Immunodeficiency 67.
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