immunodeficiency 125
MONDO:0975749Mondo
Findings
No curated finding names immunodeficiency 125 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
45 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.
- AnemiaHPOHP:0001903
- 3 of 3 reported patients
- AnisocytosisHPOHP:0011273
- 2 of 2 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- Bronchial wall thickeningHPOHP:0033542
- 1 of 1 reported patient
- CellulitisHPOHP:0100658
- 3 of 3 reported patients
- CholangitisHPOHP:0030151
- 3 of 3 reported patients
- Chronic coughHPOHP:0034315
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 3 of 3 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 2 of 2 reported patients
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Decreased total monocyte countHPOHP:0012312
- 1 of 1 reported patient
- Disseminated cutaneous wartsHPOHP:0032215
- 3 of 3 reported patients
Show the remaining 33
- DuodenitisHPOHP:0033117
- 1 of 1 reported patient
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- FatigueHPOHP:0012378
- 2 of 2 reported patients
- Genital wartsHPOHP:0032301
- 2 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 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.
- FLT3LGHGNC:3766
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of