immunodeficiency 112
MONDO:0957535Mondo
Findings
No curated finding names immunodeficiency 112 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- BCGosisHPOHP:0020087
- 2 of 2 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 3 of 3 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 2 of 2 reported patients
- Decreased gamma-delta T cell proportionHPOHP:0500271
- 1 of 1 reported patient
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 2 of 3 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 2 of 3 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 2 of 3 reported patients
- Reduced total natural killer cell countHPOHP:0040218
- 2 of 3 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 2 reported patients
Show the remaining 5
- Recurrent mucocutaneous candidiasisHPOHP:0002728
- 1 of 2 reported patients
- BCGitisHPOHP:0020086
- 1 of 3 reported patients
- Increased total B cell countHPOHP:0005404
- 1 of 3 reported patients
- Increased total T cell countHPOHP:0100828
- 1 of 3 reported patients
- Decreased total T cell countHPOHP:0005403
- 0 of 3 reported patients
Where it sits
- A kind of