immunodeficiency 114, folate-responsive
MONDO:0957955Mondo
Findings
No curated finding names immunodeficiency 114, folate-responsive 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
29 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.
- Aphthous ulcerHPOHP:0032154
- 4 of 4 reported patients
- Chronic diarrheaHPOHP:0002028
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 3 of 3 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 2 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- HypofibrinogenemiaHPOHP:0011900
- 1 of 1 reported patient
- ImmunodeficiencyHPOHP:0002721
- 4 of 4 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 1 of 1 reported patient
- Lip fissureHPOHP:0031250
- 2 of 2 reported patients
- Megaloblastic anemiaHPOHP:0001889
- 2 of 2 reported patients
- Megaloblastic bone marrowHPOHP:0001980
- 1 of 1 reported patient
Show the remaining 17
- Recurrent feverHPOHP:0001954
- 2 of 2 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 4 of 4 reported patients
- ThrombocytopeniaHPOHP:0001873
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 4 reported patients
- Atopic dermatitisHPOHP:0001047
- 1 of 2 reported patients
- Cerebral calcificationHPOHP:0002514
- 1 of 2 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.
- SLC19A1HGNC:10937
- Limited · ClinGen · Autosomal recessive · 2025