Neonatal inflammatory skin and bowel disease | About the ...
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections.
Orphanet: Neonatal inflammatory skin and bowel disease
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections.
Pharos: neonatal inflammatory skin and bowel disease (2 ...
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections.
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; …
A number sign (#) is used with this entry because of evidence that neonatal inflammatory skin and bowel disease-1 (NISBD1) is caused by homozygous mutation in the ADAM17 gene (603639) on chromosome 2p25. One such family has been reported.
Neonatal inflammatory skin and bowel disease - NIH Genetic ...
Neonatal inflammatory skin and bowel disease Summary A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections.
inflammatory skin and bowel disease, neonatal, 2 - National ...
Disease Overview. Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.
Inflammatory Skin and Bowel Disease, Neonatal, 1 - MalaCards
A disorder with neonatal onset, characterized by inflammatory features affecting the skin, hair, and gut. Skin manifestations include perioral and perianal erythema, psoriasiform erythroderma, erythema, scaling, and widespread pustules. Gastrointestinal symptoms consist of malabsorptive diarrhea worsened by gastrointestinal infections.