hatipoglu immunodeficiency syndrome
MONDO:0957229Mondo
Findings
No curated finding names hatipoglu immunodeficiency syndrome 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
HPO, annotations 2026-09-02
Features
35 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
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- HemivertebraeHPOHP:0002937
- 2 of 2 reported patients
- ImmunodeficiencyHPOHP:0002721
- 4 of 4 reported patients
- PancytopeniaHPOHP:0001876
- 4 of 4 reported patients
- PetechiaeHPOHP:0000967
- 4 of 4 reported patients
- Proportionate short statureHPOHP:0003508
- 4 of 4 reported patients
- Recurrent bronchitisHPOHP:0002837
- 4 of 4 reported patients
- Recurrent feverHPOHP:0001954
- 4 of 4 reported patients
- Recurrent herpesHPOHP:0005353
- 4 of 4 reported patients
- Recurrent infectionsHPOHP:0002719
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 4 reported patients
Show the remaining 23
- Hyperpigmented/hypopigmented maculesHPOHP:0007441
- 3 of 4 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 3 of 4 reported patients
- Specific learning disabilityHPOHP:0001328
- 3 of 4 reported patients
- AllergyHPOHP:0012393
- 2 of 4 reported patients
- AsthmaHPOHP:0002099
- 2 of 4 reported patients
- Atopic dermatitisHPOHP:0001047
- 2 of 4 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.
- DPP9HGNC:18648
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of