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Term:
Parent Terms Term With Siblings Child Terms
adenosine deaminase deficiency  
CD3delta deficiency 
CD3epsilon deficiency  
CD3gamma deficiency 
CD3zeta deficiency 
CD45 deficiency 
coronin-1A deficiency  
A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO)
HLA Class 1 Deficiency 
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 15B  
immunodeficiency 19  
immunodeficiency 22  
immunodeficiency 24  
immunodeficiency 26  
immunodeficiency 48  
immunodeficiency 49  
immunodeficiency 9  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
janus kinase-3 deficiency 
MHC class I deficiency +   
MHC class II deficiency +   
Omenn syndrome  
recombinase activating gene 1 deficiency  
recombinase activating gene 2 deficiency  
reticular dysgenesis  
Reticuloendotheliosis, X-Linked 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
Severe Combined Immunodeficiency, Atypical  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +   
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  
X-linked severe combined immunodeficiency  

Synonyms
Exact Synonyms: IMD8 ;   immunodeficiency 8 ;   immunodeficiency-8 with lymphoproliferation
Related Synonyms: T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS
Primary IDs: MIM:615401
Definition Sources: http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO" "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed "DO" "DO"

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