immunodeficiency 11b with atopic dermatitis
MONDO:0054697Mondo
Findings
No curated finding names immunodeficiency 11b with atopic dermatitis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Atopic dermatitisHPOHP:0001047
- 8 of 8 reported patients
- Increased total eosinophil countHPOHP:0001880
- 6 of 7 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 5 of 7 reported patients
- AsthmaHPOHP:0002099
- 5 of 8 reported patients
- PneumoniaHPOHP:0002090
- 4 of 8 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 3 of 8 reported patients
- Food allergyHPOHP:0500093
- 3 of 8 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 8 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 8 reported patients
- Colonic eosinophiliaHPOHP:0031813
- 1 of 8 reported patients
- Disseminated molluscum contagiosumHPOHP:0032185
- 1 of 8 reported patients
- Severe cytomegalovirus infectionHPOHP:0031692
- 1 of 8 reported patients
Show the remaining 1
- Ulcerative colitisHPOHP:0100279
- 1 of 8 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.
- CARD11HGNC:16393
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of