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T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency (MONDO:0010938)

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

Overview

Category

immune system disorder

Ontology ID

MONDO:0010938

Internal:12069

Synonyms

SCID, autosomal recessive, T-negative/B-positive type

T-B+ SCID due to JAK3 deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

SCID, T cell-negative, B cell-positive, NK cell-negative

severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency

severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE

Mapped terms

GARD:0016632

MEDGEN:331474

MESH:C563440

OMIM:600802

Orphanet:35078

SCTID:718107000

UMLS:C1833275

Child terms

Unknown children.

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