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Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation.Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells.
Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
The cause of PFAPA is unknown. [4] It is frequently discussed together with other periodic fever syndromes. [3] Possible causes include primarily genetic factors or it may be due to an initial infection. The condition appears to be the result of a disturbance of innate immunity. [5]
The syndromes within CAPS overlap clinically, and patients may have features of more than one disorder. In a retrospective cohort of 136 CAPS patients with systemic involvement from 16 countries, [2] the most prevalent clinical features were fever (84% of cases, often with concurrent constitutional symptoms such as fatigue, malaise, mood disorders or failure to thrive), skin rash (either ...
respiratory distress syndrome; measles; meconium aspiration syndrome; metapneumovirus (hMPV) infection; necrotizing enterocolitis; neonatal conjunctivitis; parainfluenza (PIV) infection; pertussis; poliomyelitis; prenatal Listeria; Group B streptoccus infection; Tay–Sachs disease; tetanus; Ureaplasma urealyticum infection; respiratory ...
TNF receptor associated periodic syndrome; Other names: Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome: Specialty: Immunology: Symptoms: Vertigo, pericarditis [1] Causes: Mutations in the TNFRSF1A gene [2] Diagnostic method: Blood test, Genetic test [3] [4] Treatment: Corticosteroids, NSAIDS [1]
PAPA syndrome is inherited in an autosomal dominant fashion, which means that if one parent is affected, there is a 100% chance that a child will inherit the disease from a homozygous affected parent and a 50% chance that a child will inherit the disease from an affected heterozygous parent. [citation needed]