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Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency (MONDO:0007064)

A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

Overview

Category

immune system disorder

Ontology ID

MONDO:0007064

Internal:8481

Synonyms

ADA deficiency

ADA-SCID

SCID due to ADA deficiency

SCID due to ADA deficiency, early-onset

SCID due to adenosine deaminase deficiency

adenosine deaminase deficiency

adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism

adenosine deaminase deficient severe combined immunodeficiency

severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

SCID due to ADA deficiency, delayed onset

SCID due to ADA deficiency, late-onset

adenosine deaminase deficiency, partial

partial ADA deficiency

severe combined immunodeficiency due to ADA deficiency

severe combined immunodeficiency due to adenosine deaminase deficiency

Mapped terms

CSP:1560-6660

DOID:5810

GARD:0005748

ICD9:277.2

MEDGEN:95935

MESH:C531816

MedDRA:10066367

NANDO:1200323

NANDO:2200696

NCIT:C3962

OMIM:102700

Orphanet:277

SCTID:44940001

UMLS:C0392607

Child terms

Unknown children.

Results

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