DISEASE: Neonatal inflammatory skin and bowel disease
Entry
H02467 Disease
Name
Neonatal inflammatory skin and bowel disease
Description
Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations that cause NISBD have been identified.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Autoinflammatory disorders
4A60 Monogenic autoinflammatory syndromes
H02467 Neonatal inflammatory skin and bowel disease
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H02467 Neonatal inflammatory skin and bowel disease
Cellular process
nt06535 Efferocytosis
H02467 Neonatal inflammatory skin and bowel disease
Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP
Title
Inflammatory skin and bowel disease linked to ADAM17 deletion.
Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA
Title
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
