immunodeficiency 61
MONDO:0010296Mondo
Findings
No curated finding names immunodeficiency 61 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
9 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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 2 reported patients
- Decreased circulating IgG2 concentrationHPOHP:0008348
- 2 of 2 reported patients
- Decreased circulating IgG4 concentrationHPOHP:0032138
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 2 reported patients
- ObesityHPOHP:0001513
- 2 of 2 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 2 of 2 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 2 reported patients
- Recurrent sinusitisHPOHP:0011108
- 2 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.
- SH3KBP1HGNC:13867
- Moderate · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2024
- Limited · ClinGen · X-linked · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 61
- Also called
- AGMX2immunodeficiency 61, X-linked recessive