Trait
Cellular immunodeficiency
An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.
Summary
- Body system
- Abnormality of the immune system
Reference genomeGRCh38hg38
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Get my Genome Test29 genes linked to Cellular immunodeficiency
Changes in these genes cause rare conditions in which Cellular immunodeficiency is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AK2adenylate kinase 2 | Very often (80–99%) | In 1 condition |
| ATMATM serine/threonine kinase | Very often (80–99%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Very often (80–99%) | In 1 condition |
| FOXN1forkhead box N1 | Very often (80–99%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| CDCA7cell division cycle associated 7 | Often (30–79%) | In 1 condition |
| CTC1CST telomere replication complex component 1 | Often (30–79%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Often (30–79%) | In 1 condition |
| HELLShelicase, lymphoid specific | Often (30–79%) | In 1 condition |
| NHP2NHP2 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NPM1nucleophosmin 1 | Often (30–79%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Often (30–79%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Often (30–79%) | In 1 condition |
| TERCtelomerase RNA component | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Often (30–79%) | In 1 condition |
| TYMSthymidylate synthetase | Often (30–79%) | In 1 condition |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Often (30–79%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Often (30–79%) | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Often (30–79%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| TBCEtubulin folding cofactor E | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| EP300EP300 lysine acetyltransferase | Rarely (1–4%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Not recorded | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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