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Inherited Immunodeficiency Diseases
- ... in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012 Oct 5;91( ...
- ... off infections effectively. This loss of protein causes immunodeficiency in people with VODI. It is unclear whether a ... This condition is inherited in an autosomal recessive pattern, which means both ...
- ... called Fabry disease, immune disorders such as celiac disease or Sjogren syndrome, an inflammatory condition called sarcoidosis, and human immunodeficiency virus (HIV) infection. SCN10A SCN9A Small fiber neuropathy is inherited in an autosomal dominant pattern, which means one ...
- ... 2, respectively. MLPH MYO5A ... Genetic Testing Registry: Griscelli ...
- ... early embryonic development. When TNFRSF13B gene mutations are inherited, they can cause either ... Genetic Testing Registry: Common ...
- ... C, Puck JM, Sullivan K, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014 Apr 22;5:162. doi: ...
- ... Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity ...
- X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent ...
- IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. ( ...
- MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). ...