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Summary
NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED IPEX
304790
OMIM = Online Medalian Inheritance of Men
37042
Xp11.23
rare
X-linked recessive
mutation in the FOXP3 gene
symptoms
anemia
diarrhea
early death
enteropathy, protein-loosing
eosinophilia
hyperglycemia
ileus
infections (severe or recurrent)
skin rash, eczematous or seborrhoic
thrombopenia, thrombocytopenia
laboratory finding
Thrombocytes, Platelets decreasedblood
Immunglobulin IgE increasedserum
Literature
Ward Cet al.A mild form of mucolipidosis type III in four Baluch siblingsClin Genet446313-3191993
Fowler MLet al.Correction of mucolipidosis II in vitro by gene transferGenomics182236-2431993
Zammarchi Eet al.Self mutilation in patient with mucolipidosis IIIPediatr Neurol11168-701994
Owada MI-cell disease and pseudo-Hurler polydystrophyNippon Rinsho53123028-30341995
Brik Ret al.Mucolipidosis III presenting as a rheumatological disorderJ Rheumatol201133-1361993