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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:inborn error of immunity
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Accession:EFO:MONDO:0003778 term browser browse the term
Definition:A disorder in which the immune system is unable to mount an adequate immune response.
Synonyms:exact_synonym: IEI;   hypoimmunity;   inborn errors of immunity;   primary immunodeficiency disease
 related_synonym: 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
 alt_id: MONDO:0003778
 xref: DOID:612;   GARD:19813;   ICD9:279.3;   MEDGEN:585013;   MESH:D007153;   NANDO:1200320;   NANDO:2100204;   NCI:C3131;   ORDO:101997;   SCTID:234532001;   SCTID:58606001;   UMLS:C0398686



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          immune system disease 0
            immune deficiency disease 0
              inborn error of immunity 0
                A20 haploinsufficiency 0
                Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 0
                Aicardi-Goutieres syndrome + 0
                B cell deficiency + 0
                BENTA disease 0
                Combined T and B cell immunodeficiency + 0
                ICF syndrome 0
                Immune dysregulation disease with immunodeficiency + 0
                Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells 0
                Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells + 0
                Macrocephaly - immune deficiency - anemia 0
                Other immunodeficiency syndrome with predominantly antibody defects + 0
                Primary immunodeficiency due to a defect in innate immunity + 0
                Say-Barber-Miller syndrome 0
                Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 0
                T-cell immunodeficiency with epidermodysplasia verruciformis 0
                X-linked agammaglobulinemia 0
                X-linked immunoneurologic disorder 0
                autosomal dominant common variable immunodeficiency 0
                autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 0
                chronic mucocutaneous candidiasis + 0
                combined immunodeficiency due to moesin deficiency 0
                combined immunodeficiency with faciooculoskeletal anomalies 0
                complement deficiency + 0
                ectodermal dysplasia and immune deficiency + 0
                familial Behcet-like autoinflammatory syndrome 0
                familial isolated congenital asplenia 0
                hepatic veno-occlusive disease-immunodeficiency syndrome 0
                hereditary hemophagocytic lymphohistiocytosis + 0
                immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome + 0
                immuno-osseous dysplasia + 0
                immunodeficiency 28 0
                immunodeficiency 33 0
                immunodeficiency 37 0
                immunodeficiency 39 0
                immunodeficiency 47 0
                immunodeficiency 49 0
                immunoglobulin heavy chain deficiency 0
                lymphoproliferative syndrome + 0
                phagocyte bactericidal dysfunction + 0
                primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 0
                properdin deficiency, X-linked 0
                recurrent infections associated with rare immunoglobulin isotypes deficiency 0
                trichohepatoenteric syndrome 0
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