immunodeficiency 105
MONDO:0800104Mondo
Findings
No curated finding names immunodeficiency 105 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.
Definition from the Mondo Disease Ontology (MONDO:0800104), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absence of lymph node germinal centerHPOHP:0002849
- 1 of 1 reported patient
- B-cell lymphomaHPOHP:0012191
- 1 of 1 reported patient · Childhood onset
- Decreased circulating IgA concentrationHPOHP:0002720
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 1 reported patient
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 1 reported patient
Show the remaining 4
- PancytopeniaHPOHP:0001876
- 1 of 1 reported patient
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 1 reported patient
- Skin rashHPOHP:0000988
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTPRCHGNC:9666
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: immunodeficiency 105
- Also called
- IMD105