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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
inborn error of immunity +   
A disorder in which the immune system is unable to mount an adequate immune response.
 A20 haploinsufficiency 
 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 
 Aicardi-Goutieres syndrome +  
 autosomal dominant common variable immunodeficiency 
 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 
 B cell deficiency +   
 BENTA disease 
 chronic mucocutaneous candidiasis +  
 combined immunodeficiency due to moesin deficiency 
 combined immunodeficiency with faciooculoskeletal anomalies 
 Combined T and B cell immunodeficiency +  
 complement deficiency +  
 ectodermal dysplasia and immune deficiency +  
 familial Behcet-like autoinflammatory syndrome 
 familial isolated congenital asplenia 
 hepatic veno-occlusive disease-immunodeficiency syndrome 
 hereditary hemophagocytic lymphohistiocytosis +  
 ICF syndrome 
 Immune dysregulation disease with immunodeficiency +  
 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +  
 immuno-osseous dysplasia +  
 immunodeficiency 28 
 immunodeficiency 33 
 immunodeficiency 37 
 immunodeficiency 39 
 immunodeficiency 47 
 immunodeficiency 49 
 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells 
 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells +  
 immunoglobulin heavy chain deficiency 
 lymphoproliferative syndrome +  
 Macrocephaly - immune deficiency - anemia 
 Other immunodeficiency syndrome with predominantly antibody defects +  
 phagocyte bactericidal dysfunction +  
 Primary immunodeficiency due to a defect in innate immunity +   
 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 
 properdin deficiency, X-linked 
 recurrent infections associated with rare immunoglobulin isotypes deficiency 
 Say-Barber-Miller syndrome 
 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 
 T-cell immunodeficiency with epidermodysplasia verruciformis 
 trichohepatoenteric syndrome 
 X-linked agammaglobulinemia 
 X-linked immunoneurologic disorder 

Synonyms
Exact Synonyms: IEI ;   hypoimmunity ;   inborn errors of immunity ;   primary immunodeficiency disease
Related Synonyms: antibody deficiency syndrome ;   antibody deficiency syndromes ;   deficiency syndromes, immunologic ;   immune deficiency disorder ;   immunodeficiency syndrome ;   immunologic deficiency syndrome ;   immunological deficiency syndrome ;   immunological deficiency syndromes ;   primary immunodeficiency
Alternate IDs: MONDO:0003778
Xrefs: DOID:612 ;   GARD:19813 ;   ICD9:279.3 ;   MEDGEN:585013 ;   MESH:D007153 ;   NANDO:1200320 ;   NANDO:2100204 ;   NCI:C3131 ;   ORDO:101997 ;   SCTID:234532001
Definition Sources: NCIT:P378

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