immunodeficiency 126, susceptibility to
MONDO:0975761Mondo
Findings
No curated finding names immunodeficiency 126, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Late onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
84 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 4 of 4 reported patients
- AllergyHPOHP:0012393
- 1 of 1 reported patient
- Alopecia universalisHPOHP:0002289
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- AnorexiaHPOHP:0002039
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 2 of 2 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Chronic tinea infectionHPOHP:0032259
- 1 of 1 reported patient
- Clubbing of fingersHPOHP:0100759
- 1 of 1 reported patient
Show the remaining 72
- ConjunctivitisHPOHP:0000509
- 1 of 1 reported patient
- CracklesHPOHP:0030830
- 1 of 1 reported patient
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- Decreased naive CD4+ T cell proportionHPOHP:0410378
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 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.
- PTCRAHGNC:21290
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of