REL

Panel	Reviews	Mode of inheritance	Details
Amber REL in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 92, MIM# 619652 Combined immunodeficiency T cells: normal, decreased memory CD4, poor proliferation B cells: low, mostly naive, few switched memory B cells, impaired proliferation Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms Defective innate immunity
Amber REL in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 92, MIM# 619652 Combined immunodeficiency T cells: normal, decreased memory CD4, poor proliferation B cells: low, mostly naive, few switched memory B cells, impaired proliferation Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms Defective innate immunity

Panel

Reviews

Mode of inheritance

Details

Version 1.1902

review

BIALLELIC, autosomal or pseudoautosomal

Immunodeficiency 92, MIM# 619652
Combined immunodeficiency
T cells: normal, decreased memory CD4, poor proliferation
B cells: low, mostly naive, few switched memory B cells, impaired proliferation
Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms
Defective innate immunity

Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

Immunological disorders_SuperPanel

review

BIALLELIC, autosomal or pseudoautosomal

Immunodeficiency 92, MIM# 619652
Combined immunodeficiency
T cells: normal, decreased memory CD4, poor proliferation
B cells: low, mostly naive, few switched memory B cells, impaired proliferation
Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms
Defective innate immunity

2 panels