MedGen

An infection of the upper or lower respiratory tract. [from HPO]

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). [from OMIM]

Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adulthood, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells (review by Zhang et al., 2013; summary by Mork et al., 2015; Sironi et al., 2017, Lim et al., 2019, Partanen et al., 2020). For a general phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see 610551. [from OMIM]