immunodeficiency 102
MONDO:0024781Mondo
Findings
No curated finding names immunodeficiency 102 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
- Adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
31 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.
- Chronic rhinitisHPOHP:0002257
- 1 of 1 reported patient
- Chronic sinusitisHPOHP:0011109
- 1 of 1 reported patient
- Decreased naive CD4+ T cell proportionHPOHP:0410378
- 5 of 5 reported patients
- Decreased total B cell countHPOHP:0010976
- 5 of 5 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 4 of 4 reported patients
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 3 of 3 reported patients
- Partial absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410301
- 1 of 1 reported patient
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 4 of 4 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 1 reported patient
- Reduced total natural killer cell countHPOHP:0040218
- 4 of 4 reported patients
- Severe influenza infectionHPOHP:0034249
- 1 of 1 reported patient
- Severe varicella zoster infectionHPOHP:0032170
- 1 of 1 reported patient
Show the remaining 19
- Decreased circulating IgM concentrationHPOHP:0002850
- 4 of 5 reported patients
- Autoimmune neutropeniaHPOHP:0001904
- 3 of 4 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 3 of 4 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 4 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 3 of 4 reported patients
- Recurrent sinusitisHPOHP:0011108
- 3 of 4 reported patients
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 · Ambry Genetics · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: immunodeficiency 102
- Also called
- IMD102SASH3 deficiencyX-linked CID due to SASH3 deficiencyX-linked combined immunodeficiency due to SASH3 deficiency