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Article

Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency.

The Journal of allergy and clinical immunology - 1 Feb 1994

Umetsu D T, Schlossman C M, Ochs H D, Hershfield M S

Abstract excerpt

Adenosine deaminase (ADA) deficiency is the cause of about one third of the autosomal recessively inherited cases of severe combined immunodeficiency. Disease severity in ADA deficiency is variable, presumably related in part to heterogeneity in the genotypes causing the disease. We now report on two children in a single family with ADA deficiency who presented with distinct clinical courses. One child presented...

Topics

Adenine Nucleotides
Adenosine Deaminase
Antibody Formation
Child, Preschool
Erythrocytes
Female
Humans
Immune System
Immunoglobulins, Intravenous
Infant
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Severe Combined Immunodeficiency

T-Lymphocytes

Source

Identifiers

PMID: 8120281
DOI: 10.1016/0091-6749(94)90365-4

Genes

ADA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8120281-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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