The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

S Al-Muhsen, JL Casanova - Journal of allergy and clinical immunology, 2008 - Elsevier
Primary immunodeficiencies (PIDs) were long thought to be exclusively recessive traits—
autosomal recessive (AR) in most cases, with a few X-linked recessive (XR) diseases. In
recent years, autosomal dominant (AD), mitochondrial, polygenic, and even somatic PIDs
have been described. However, AR remains the most frequent inheritance pattern among
recently described PIDs. Some PIDs have been shown to be genetically heterogeneous.
Mendelian susceptibility to mycobacterial diseases (MSMD) displays a high level of genetic …