Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is my

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prédisposition mendélienne liée à l'X aux infections mycobactériennes

SNOMEDCT-BE (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is my / 719814009

SNOMEDCT-BE (disorder) / 719814009

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antigen-presenting cell gene | APC gene

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gène APC

IATE - Health

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blood-group antigen | blood group antigen

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antigène érythrocytaire

biologie > immunologie

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http://gdt.oqlf.gouv.qc.ca/fic (...) [HTML] [2018-01-01]

Jk antigen | Kell antigen | Kell blood group system | Kell system antingen

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antigène Kell

IATE - Health

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http://iate.europa.eu/FindTerm (...) [HTML] [2017-12-31]

An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in t

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déficit combiné en facteurs V et VIII

SNOMEDCT-BE (chromosome 18; q21) or in t / 715559004

SNOMEDCT-BE (disorder) / 715559004

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blood group antigen [ blood group substance ]

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antigène des groupes sanguins [ antigène érythrocytaire ]

Immunology

Immunologie

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