Immunodeficiency 65 Viral Infections (IMD65)

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OMIM 56 618648 OMIM Phenotypic Series 56 PS300755

MeSH 43 D007153 MedGen 41 CN262580

OMIM : ⁵⁶ Immunodeficiency-65 (IMD65) is an autosomal recessive immunologic disorder characterized by onset of recurrent and severe viral infections from early infancy. Affected individuals have impaired ability to fight viral infections, resulting in clinically significant disease, including pneumonia, bronchiectasis, and septic shock. Laboratory studies may show lymphopenia or hypogammaglobulinemia, particularly during infection; more detailed studies show an impaired cellular type I interferon response. Treatment with intravenous immunoglobulin (IVIg) is beneficial. Important features of this disorder include the rapid development of septic shock, as well as poor outcomes after vaccination with live attenuated vaccines; such vaccines should never be administered to patients with known impaired interferon responses (summary by Hernandez et al., 2018 and Bravo Garcia-Morato et al., 2019). (618648)

MalaCards based summary : Immunodeficiency 65 Viral Infections, is also known as immunodeficiency 65, susceptibility to viral infections. An important gene associated with Immunodeficiency 65 Viral Infections is IRF9 (Interferon Regulatory Factor 9). Affiliated tissues include t cells.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 65: An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines.

Clinical features from OMIM:

618648

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 65 Viral Infections

Search GEO for disease gene expression data for Immunodeficiency 65 Viral Infections.