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Hypohidrotic ectodermal dysplasia with immune deficiency information


Hypohidrotic ectodermal dysplasia with immune deficiency
This condition is usually inherited in an X-linked recessive manner
SpecialtyMedical genetics

Hypohidrotic/anhidrotic ectodermal dysplasia with immune deficiency is a rare genetic condition characterized by a combination of the features of ectodermal dysplasia alongside immunodeficiency.

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Hypohidrotic ectodermal dysplasia with immune deficiency

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Hypohidrotic/anhidrotic ectodermal dysplasia with immune deficiency is a rare genetic condition characterized by a combination of the features of ectodermal...

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List of primary immunodeficiencies

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PGM3 deficiency Hypohidrotic ectodermal dysplasia NEMO deficiency IKBA deficiency Calcium channel defects ORAI1 deficiency STIM1 deficiency Transcobalamin...

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List of syndromes

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cubiti Hyperventilation syndrome Hyperviscosity syndrome Hypohidrotic ectodermal dysplasia Hypoplastic left heart syndrome Hypoplastic right heart syndrome...

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List of skin conditions

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Heterochromia iridum Holocarboxylase synthetase deficiency Hypohidrotic ectodermal dysplasia (anhidrotic ectodermal dysplasia, Christ–Siemens–Touraine syndrome)...

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IKBKG

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inflammation, immunity, cell survival, and other pathways. Mutations in the IKBKG gene results in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and...

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List of abbreviations for diseases and disorders

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TB Extensively drug-resistant tuberculosis XHED X-linked hypohidrotic ectodermal dysplasia XLMTM X-linked myotubular myopathy XLOS X-linked Opitz G/BBB...

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List of OMIM disorder codes

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129490; EDAR Ectodermal dysplasia, hypohidrotic, autosomal recessive; 224900; EDAR Ectodermal dysplasia, hypohidrotic, with immune deficiency; 300291; IKBKG...

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