primary immunodeficiency disease
immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation
TRIANGLE disease
human disease
familial cold urticaria
primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia
combined immunodeficiency
primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity
T cell deficiency
Human disease
complement deficiency
primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation
neutrophil immunodeficiency syndrome
medical condition
Neutrophil-specific granule deficiency
human disease
autoimmune disease
type of human disease
chronic fatigue syndrome
medical condition involving extreme fatigue and a wide range of other symptoms
WHIM syndrome
immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22