MHC class I and II deficiencies

S Hanna, A Etzioni - Journal of Allergy and Clinical Immunology, 2014 - Elsevier
Deficiencies of MHC complex class I or II are rare primary immunodeficiencies, both of which
are inherited in an autosomal recessive pattern. MHC class II deficiency is a prototype of a
disease of gene regulation. Defects in transacting regulatory factors required for expression
of MHC class II genes, rather than the genes themselves, are responsible for the disease
phenotype. The affected genes are known to encode 4 distinct regulatory factors controlling
transcription of MHC class II genes. These transacting factors are the class II transactivator …