immunodeficiency 104
Findings
No curated finding names immunodeficiency 104 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
Definition from the Mondo Disease Ontology (MONDO:0012163), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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 total T cell countHPOHP:0005403
- 11 of 11 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Recurrent mucocutaneous candidiasisHPOHP:0002728
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Failure to thrive secondary to recurrent infectionsHPOHP:0008866
- Oral ulcerHPOHP:0000155
- Severe combined immunodeficiencyHPOHP:0004430
Genes
2 genes
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.
- IL7RHGNC:6024
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- PTPRCHGNC:9666
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
5 names
Resolves to: immunodeficiency 104
- Also called
- autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCIDIMD104severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positivesevere combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positivesevere combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type