Immunodeficiency 54 (IMD54)

Alias:

Primary Immunodeficiency with Natural-Killer Cell Deficiency and Adrenal Insufficiency

Natural Killer Cell Deficiency, Familial Isolated

Imd54

Nkcd

Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect

Familial Isolated Natural Killer Cell Deficiency

Primary Immunodeficiency Due to Mcm4 Deficiency

Nkgcd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 54, also known as primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, is related to nk cell deficiency and apocrine adenoma. An important gene associated with Immunodeficiency 54 is MCM4 (Minichromosome Maintenance Complex Component 4), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Autophagy pathway. Affiliated tissues include nk cells and lung, and related phenotypes are respiratory insufficiency and respiratory failure

Related ID：

MALACARDS：IMM177

OMIM：609981

MESH：C566492