Phenotypes associated with the disease Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency (ORPHA:319552):
- Abnormal circulating interleukin concentration (HP:0011117): The concentration of an interleukin (a class of cytokines) is outside the limits of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319552)
- Recurrent mycobacterial infections (HP:0011274): Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319552)
- Disseminated non-tuberculous mycobacterial infection (HP:0032283): Disseminated infection with non-tuberculous mycobacteria (NTM), involving multiple organ systems that occurs in the context of immune deficiency. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:319552)
- Salmonella osteomyelitis (HP:0005661): Osteomyelitis caused by infection with the bacteria, salmonella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319552)
- Recurrent Candida infection (HP:0005401): Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:319552)
- Tegumentary leishmaniasis susceptibility (HP:0007408): Increased susceptibility to infection by the protozan parasite of the genus Leishmania. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319552)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:319552)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:319552)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319552)
- BCGosis (HP:0020087): Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:319552)
- Vasculitis in the skin (HP:0200029): A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:319552)
- Recurrent Klebsiella infection (HP:0002742): Increased susceptibility to Klebsiella infections as manifested by recurrent episodes of Klebsiella infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:319552)
- Unusual Histoplasma capsulatum infection (HP:0032256): An increased susceptibility to Histoplasma capsulatum infections as manifested by a recurrent or severe/invasive infection with Histoplasma capsulatum, or occurring in an unusual anatomical location. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:319552)
- Coccidioidomycosis (HP:0032249): Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:319552)
- Severe Toxoplasma infection (HP:0020105): Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:319552)