Nezelof syndrome

Summary
Synonym
  • Nezelof's syndrome
  • T-cell immunodeficiency with thymic aplasia
  • TIDTA
  • thymic aplasia
  • thymic dysplasia with normal immunoglobulins
Definition
A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
Super Class
T cell deficiency autosomal recessive disease
External Links
Disease Ontology
DOID:2012
Mondo Disease Ontology
UMLS
ORDO
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4860 PNP purine nucleoside phosphorylase
8809 IL18R1 interleukin 18 receptor 1
9993 DGCR2 DiGeorge syndrome critical region gene 2
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024