Disease #02806 (IMD104 (immunodeficiency, type 104, severe combined), OMIM:608971)

Official abbreviation IMD104
Name immunodeficiency, type 104, severe combined
OMIM ID 608971
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene IL7R
Associated tissues brain
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-10-17 16:05:54 +02:00 (CEST)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00148287 - - - F yes Turkey - 00y06m - - HSCT IMD104 nude severe T-cell immunodeficiency with normal B and NK cells, thymus dysgenesis, congenital alopecia and nail dystrophy FOXN1 FOXN1 1 2 Sinem Firtina
00150107 - - - M yes Turkey Turkısh 01y - - - IMD104 - JAK3 JAK3 1 1 Sinem Firtina
00150111 - - - M yes Turkey Turkısh 00y09m - - - IMD104 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive RAG2 RAG2 1 1 Sinem Firtina
00437021 - - - F - China - - - - - IMD104 Hepatosplenomegaly IL7R IL7R 1 1 Lulu Yan
00437939 - - - F - China - - - - - IMD104 Hepatosplenomegaly IL7R IL7R 2 1 Lulu Yan
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.