Xeroderma Pigmentosum: A Model for Human Premature Aging.

Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their unique features. Inherited diseases of DNA repair, such as xeroderma pigmentosum (XP), provide an excellent model for human aging due to the accelerated accumulation of DNA damage.

Specific Antibody Immunodeficiency Presenting With -Induced Spontaneous Bacterial Peritonitis.

Specific antibody immunodeficiency (SAD) is a primary immunodeficiency disorder characterized by normal levels of serum immunoglobulins (IgG, IgA, and IgM) associated with a dysfunctional immune response. SAD is associated with recurrent infections in the setting of an insufficient response to polysaccharide vaccinations. is a well-established cause of respiratory infections in SAD.

Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype.

Familial cold inflammatory syndrome (FCAS) is a rare, inherited inflammatory disease characterized by episodes of fever, rash, and arthralgias after exposure to cold stimuli. Previous literature has established FCAS linked to autosomal dominant mutations in the NLRP3 (CIAS1) and NLRP12 genes. Moreover, there has been recent evidence of NLRC4-inflammasomopathies.