Immunodeficiency 19

Alternative Names

  • IMD19
  • Cd3-Delta Deficiency
  • Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, NK Cell-Positive
  • SCID, T Cell-Negative, B Cell-Positive, NK Cell-Positive
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

615617

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q23.3

Description

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615617.1United Arab EmiratesMaleYesYes Lymphadenopathy; Lymphadenitis; Diarrhea... NM_000732.4:c.128G>A, NM_001287344.2:c.80G>AHemizygous, HomozygousAutosomal, RecessiveAl-Hammadi et al. 2020
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