autoimmune disease, multisystem, infantile-onset, 3
MONDO:0957388Mondo
Findings
No curated finding names autoimmune disease, multisystem, infantile-onset, 3 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
19 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.
- Decreased circulating specific pneumococcal antibody concentrationHPOHP:0012476
- 2 of 2 reported patients
- Increased circulating interleukin 10 concentrationHPOHP:0033199
- 3 of 3 reported patients
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 3 of 3 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 3 reported patients
- HypothyroidismHPOHP:0000821
- 2 of 3 reported patients
- Type I diabetes mellitusHPOHP:0100651
- 2 of 3 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 3 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 3 reported patients
- Hepatic hemophagocytosisHPOHP:0034797
- 1 of 3 reported patients
- Partial absence of specific antibody response to tetanus vaccineHPOHP:0410297
- 1 of 3 reported patients
- Recurrent feverHPOHP:0001954
- 1 of 3 reported patients
Show the remaining 7
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 3 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 1 of 3 reported patients
- UrticariaHPOHP:0001025
- 1 of 3 reported patients
- VitiligoHPOHP:0001045
- 1 of 3 reported patients
- Abnormal total B cell countHPOHP:0010975
- 0 of 3 reported patients
- Abnormal total natural killer cell countHPOHP:0040089
- 0 of 3 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.
- CBLBHGNC:1542
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2023