Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0017160 (
gastroenteritis
)
11,398
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the
NEMO
(NF-kappaB essential modulator) gene. Skin lesions are typically the first manifestation of IP though they may be accompanied by multiple malformations. This report presents the case of a female newborn with early onset of IP lesions within the 1st day of life. After the age of 1 month she developed frequent episodes of severe
gastroenteritis
. Examination of the immune system revealed low concentrations of IgG subclasses. This study suggests that, contrary to previous belief, IP is associated with immune deficiency.
...
PMID:Incontinentia pigmenti in combination with decreased IgG subclass concentrations in a female newborn. 1610 46
