Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

T-cell immunodeficiency with thymic aplasia
Synonyms

TIDTA

Nezelof syndrome
Definitions

A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.
ID

http://www.orpha.net/ORDO/Orphanet_83471
alternative_term

TIDTA

Nezelof syndrome
definition

A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=83471
has_age_of_onset

Infancy

Neonatal
has_inheritance

Autosomal recessive

X-linked recessive
hasDbXref

OMIM:242700

UMLS:C0152094

MeSH:C536288

ICD-10:D81.4
label

T-cell immunodeficiency with thymic aplasia
notation

ORPHA:83471
part_of

http://www.orpha.net/ORDO/Orphanet_331220
prefixIRI

ORDO:Orphanet_83471
prefLabel

T-cell immunodeficiency with thymic aplasia
present_in

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_331220
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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