immunodeficiency 64
MONDO:0032803Mondo
Findings
No curated finding names immunodeficiency 64 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
25 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.
- Abnormal CD4:CD8 ratioHPOHP:0031394
- 1 of 1 reported patient
- Abnormal T cell proliferationHPOHP:0031379
- 1 of 1 reported patient
- Antinuclear antibody positivityHPOHP:0003493
- 2 of 2 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 2 of 2 reported patients · Childhood onset
- B-cell lymphomaHPOHP:0012191
- 2 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
- Cervical lymphadenopathyHPOHP:0025289
- 2 of 2 reported patients
- Clubbing of fingersHPOHP:0100759
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- 1 of 1 reported patient
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient · Infantile onset
Show the remaining 13
- HepatosplenomegalyHPOHP:0001433
- 2 of 2 reported patients
- Increased CD21low B cell proportionHPOHP:0033207
- 2 of 2 reported patients
- Increased circulating IgA concentrationHPOHP:0003261
- 2 of 2 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 2 of 2 reported patients
- Increased circulating IgM concentrationHPOHP:0003496
- 2 of 2 reported patients
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
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.
- RASGRP1HGNC:9878
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of