combined immunodeficiency, X-linked
MONDO:0010730Mondo
Findings
No curated finding names combined immunodeficiency, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
5 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.
- Pneumocystis jirovecii pneumoniaHPOHP:0020102
- 1 of 1 reported patient
- Abnormal total B cell countHPOHP:0010975
- 0 of 1 reported patient
- Abnormal total natural killer cell countHPOHP:0040089
- 0 of 1 reported patient
- Abnormal total T cell numberHPOHP:0011839
- 0 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 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.
- SASH3HGNC:15975
- Definitive · ClinGen · X-linked · 2024
Where it sits
Other names
1 name
Resolves to: combined immunodeficiency, X-linked
- Also called
- combined immunodeficiency, X-linked, moderate, X-linked recessive