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Pathways

Ontology Browser

Term:
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS (DOID:9005066)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS 
This disease is an autosomal recessive immunologic disorder characterized by the onset of HPV-related common cutaneous warts in the first decade of life. The severity of the skin lesions appears to be related to the specific HPV subtype. Peripheral blood leukocytes and immunoglobulins are essentially normal, but antibody response to vaccination is variably decreased and there is impaired T-cell function, particularly of CD4+ T cells. The findings are consistent with an exclusive and specific impairment of T-cell adaptive immunity with increased susceptibility to alpha- and gamma-HPV.

Synonyms
Exact Synonyms: IMD123
Replaced By: DOID:0061089
Definition Sources: MIM:620901

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