Immunodeficiency due to CD25 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: CD25 DEFICIENCY
IL2RA DEFICIENCY
Interleukin-2 receptor alpha chain deficiency
Number of Symptoms 19
OrphanetNr: 169100
OMIM Id: 606367
ICD-10: D81.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Immunodeficiency syndrome with autoimmunity
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000819) Diabetes mellitus rare [HPO:skoehler] 131 / 7739
2
 (HPO:0000821) Hypothyroidism rare [HPO:skoehler] 141 / 7739
3
 (HPO:0001744) Splenomegaly 337 / 7739
4
 (HPO:0001433) Hepatosplenomegaly 9096364 IBIS 78 / 7739
5
 (HPO:0002028) Chronic diarrhea 9096364 IBIS 51 / 7739
6
 (HPO:0011473) Villous atrophy 14 / 7739
7
 (HPO:0002240) Hepatomegaly 467 / 7739
8
 (HPO:0000964) Eczema 81 / 7739
9
 (HPO:0001596) Alopecia 162 / 7739
10
 (HPO:0005403) T lymphocytopenia 9096364 IBIS 10 / 7739
11
 (HPO:0001890) Autoimmune hemolytic anemia 17 / 7739
12
 (HPO:0002720) IgA deficiency 9096364 IBIS 33 / 7739
13
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
14
 (HPO:0002716) Lymphadenopathy 9096364 IBIS 129 / 7739
15
 (HPO:0004429) Recurrent viral infections 9096364 IBIS 20 / 7739
16
 (HPO:0002718) Recurrent bacterial infections 9096364 IBIS 75 / 7739
17
 (HPO:0002721) Immunodeficiency 97 / 7739
18
 (HPO:0002841) Recurrent fungal infections 9096364 IBIS 16 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sharfe et al. (1997) described a novel human immune aberration arising from a truncation mutation of the interleukin-2 receptor alpha chain (CD25), a subunit of the tripartite high-affinity receptor for interleukin-2. This immunodeficiency was characterized by decreased numbers ...
Molecular genetics OMIM In a patient with IL2RA deficiency, Sharfe et al. (1997) identified a 4-bp deletion in the CD25 gene, resulting in a frameshift in protein translation (147730.0001).