Immunodeficiency 68 (IMD68)

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OMIM® 57 612260 OMIM Phenotypic Series 57 PS300755 KEGG 36 H00721 MeSH 44 D007153 ICD10 via Orphanet 33 D84.8

UMLS via Orphanet 72 C2677092 Orphanet 58 ORPHA183713 MedGen 41 C2677092 SNOMED-CT via HPO 68 19471005 234532001 258211005 372939007 386661006 396234004 50177009 more

OMIM® : ⁵⁷ Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed. IMD68 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis and upper respiratory infections being common manifestations. 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. Viral, fungal, and parasitic infections are generally not 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, IMD68 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 Picard et al., 2010). See also IMD67 (607676), caused by mutation in the IRAK4 gene (602170), which shows a similar phenotype to IMD68. 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). (612260) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 68, also known as myd88 deficiency, is related to immunodeficiency 67 and bacterial infectious disease. An important gene associated with Immunodeficiency 68 is MYD88 (MYD88 Innate Immune Signal Transduction Adaptor), and among its related pathways/superpathways are Apoptosis and Toll-like receptor signaling pathway. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are immunodeficiency and recurrent bacterial skin infections

MedlinePlus Genetics : ⁴³ MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 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 by about age 10.Children with MyD88 deficiency develop 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 ears, nose, or throat. Although fever is a common reaction to bacterial infections, many people with MyD88 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.

GARD : ²⁰ MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites is normal. MYD88 deficiency is caused by changes (mutations) in the MYD88 gene and is inherited in an autosomal recessive manner. Management is focused on the prevention and early treatment of infections with appropriate antibiotics.

KEGG : ³⁶ Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 68: An autosomal recessive primary immunodeficiency characterized by life- threatening, often recurrent, pyogenic bacterial infections, including invasive pneumococcal disease, beginning in infancy or early childhood.

Clinical features from OMIM®:

612260 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 68

Search GEO for disease gene expression data for Immunodeficiency 68.