MCID: IMM122
MIFTS: 26

Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

MalaCards integrated aliases for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

Name: Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 57 75
Interleukin 2 Receptor, Alpha, Deficiency of 57 29 6 40 73
Il2ra Deficiency 57 75
Cd25 Deficiency 57 75
Imd41 57 75
Interleukin-2 Receptor, Alpha Chain, Deficiency of 13
Interleukin-2 Receptor Alpha Chain Deficiency 59
Immunodeficiency Due to Cd25 Deficiency 59
Interleukin 2 Receptor Alpha Deficiency 75

Characteristics:

Orphanet epidemiological data:

59
immunodeficiency due to cd25 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
autoimmune features are variable
four unrelated patients have been reported (last curated july 2015)


HPO:

32
immunodeficiency 41 with lymphoproliferation and autoimmunity:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

OMIM : 57 Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013). (606367)

MalaCards based summary : Immunodeficiency 41 with Lymphoproliferation and Autoimmunity, also known as interleukin 2 receptor, alpha, deficiency of, is related to bronchiolitis. An important gene associated with Immunodeficiency 41 with Lymphoproliferation and Autoimmunity is IL2RA (Interleukin 2 Receptor Subunit Alpha). Affiliated tissues include skin, t cells and lung, and related phenotypes are diabetes mellitus and hypothyroidism

UniProtKB/Swiss-Prot : 75 Immunodeficiency 41 with lymphoproliferation and autoimmunity: A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions.

Related Diseases for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Diseases related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bronchiolitis 9.6

Symptoms & Phenotypes for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Abdomen Liver:
hepatomegaly

Skin Nails Hair Hair:
alopecia

Skin Nails Hair Skin:
eczema
dermatitis

Endocrine Features:
hypothyroidism (in some patients)
diabetes mellitus (in some patients)

Respiratory:
recurrent respiratory infections

Immunology:
immunodeficiency
lymphadenopathy
recurrent viral, bacterial, and fungal infections
increased nonspecific cd8+ t-cell proliferation
poor antigen specific t-cell proliferation
more
Abdomen Gastrointestinal:
chronic diarrhea
villous atrophy
autoimmune enteropathy

Hematology:
autoimmune hemolytic anemia

Respiratory Lung:
inflammatory lung disease
lymphocytic infiltration


Clinical features from OMIM:

606367

Human phenotypes related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 occasional (7.5%) HP:0000819
2 hypothyroidism 32 occasional (7.5%) HP:0000821
3 eczema 32 HP:0000964
4 hepatosplenomegaly 32 HP:0001433
5 alopecia 32 HP:0001596
6 splenomegaly 32 HP:0001744
7 autoimmune hemolytic anemia 32 HP:0001890
8 chronic diarrhea 32 HP:0002028
9 recurrent respiratory infections 32 HP:0002205
10 hepatomegaly 32 HP:0002240
11 lymphadenopathy 32 HP:0002716
12 recurrent bacterial infections 32 HP:0002718
13 iga deficiency 32 HP:0002720
14 immunodeficiency 32 HP:0002721
15 recurrent fungal infections 32 HP:0002841
16 recurrent viral infections 32 HP:0004429
17 decrease in t cell count 32 HP:0005403
18 villous atrophy 32 HP:0011473

Drugs & Therapeutics for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Genetic Tests for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Genetic tests related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

# Genetic test Affiliating Genes
1 Interleukin 2 Receptor, Alpha, Deficiency of 29 IL2RA

Anatomical Context for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

MalaCards organs/tissues related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

41
Skin, T Cells, Lung, B Cells, Eye

Publications for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Articles related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

# Title Authors Year
1
Severe Dry Eye in CD25 Deficiency Syndrome. ( 29252577 )
2018
2
Follicular Bronchiolitis as Phenotype Associated with Cd25 Deficiency. ( 24116927 )
2013

Variations for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

75
# Symbol AA change Variation ID SNP ID
1 IL2RA p.Tyr41Ser VAR_074641 rs796051888
2 IL2RA p.Ser166Asn VAR_074642 rs796051887

ClinVar genetic disease variations for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

6
(show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL2RA NM_000417.2(IL2RA): c.61_64delGCAG (p.Ala21Serfs) deletion Pathogenic rs886041032 GRCh38 Chromosome 10, 6062088: 6062091
2 IL2RA NM_000417.2(IL2RA): c.61_64delGCAG (p.Ala21Serfs) deletion Pathogenic rs886041032 GRCh37 Chromosome 10, 6104051: 6104054
3 IL2RA NM_000417.2(IL2RA): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs886041037 GRCh38 Chromosome 10, 6024310: 6024310
4 IL2RA NM_000417.2(IL2RA): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs886041037 GRCh37 Chromosome 10, 6066273: 6066273
5 IL2RA NM_000417.2(IL2RA): c.692dupA (p.Thr232Aspfs) duplication Pathogenic rs886041038 GRCh37 Chromosome 10, 6061426: 6061426
6 IL2RA NM_000417.2(IL2RA): c.692dupA (p.Thr232Aspfs) duplication Pathogenic rs886041038 GRCh38 Chromosome 10, 6019463: 6019463
7 IL2RA NM_000417.2(IL2RA): c.497G> A (p.Ser166Asn) single nucleotide variant Pathogenic rs796051887 GRCh37 Chromosome 10, 6063527: 6063527
8 IL2RA NM_000417.2(IL2RA): c.497G> A (p.Ser166Asn) single nucleotide variant Pathogenic rs796051887 GRCh38 Chromosome 10, 6021564: 6021564
9 IL2RA NM_000417.2(IL2RA): c.122A> C (p.Tyr41Ser) single nucleotide variant Pathogenic rs796051888 GRCh37 Chromosome 10, 6067931: 6067931
10 IL2RA NM_000417.2(IL2RA): c.122A> C (p.Tyr41Ser) single nucleotide variant Pathogenic rs796051888 GRCh38 Chromosome 10, 6025968: 6025968
11 IL2RA NM_000417.2(IL2RA): c.457G> A (p.Val153Ile) single nucleotide variant Benign/Likely benign rs201188114 GRCh37 Chromosome 10, 6063567: 6063567
12 IL2RA NM_000417.2(IL2RA): c.457G> A (p.Val153Ile) single nucleotide variant Benign/Likely benign rs201188114 GRCh38 Chromosome 10, 6021604: 6021604
13 IL2RA NM_000417.2(IL2RA): c.711A> G (p.Thr237=) single nucleotide variant Conflicting interpretations of pathogenicity rs11256354 GRCh37 Chromosome 10, 6061407: 6061407
14 IL2RA NM_000417.2(IL2RA): c.711A> G (p.Thr237=) single nucleotide variant Conflicting interpretations of pathogenicity rs11256354 GRCh38 Chromosome 10, 6019444: 6019444
15 IL2RA NM_000417.2(IL2RA): c.*2178T> A single nucleotide variant Uncertain significance rs886047070 GRCh37 Chromosome 10, 6052657: 6052657
16 IL2RA NM_000417.2(IL2RA): c.*2178T> A single nucleotide variant Uncertain significance rs886047070 GRCh38 Chromosome 10, 6010694: 6010694
17 IL2RA NM_000417.2(IL2RA): c.*1672A> T single nucleotide variant Likely benign rs12722605 GRCh38 Chromosome 10, 6011200: 6011200
18 IL2RA NM_000417.2(IL2RA): c.*1672A> T single nucleotide variant Likely benign rs12722605 GRCh37 Chromosome 10, 6053163: 6053163
19 IL2RA NM_000417.2(IL2RA): c.*1575G> A single nucleotide variant Uncertain significance rs886047072 GRCh37 Chromosome 10, 6053260: 6053260
20 IL2RA NM_000417.2(IL2RA): c.*1575G> A single nucleotide variant Uncertain significance rs886047072 GRCh38 Chromosome 10, 6011297: 6011297
21 IL2RA NM_000417.2(IL2RA): c.*1549C> T single nucleotide variant Benign rs12722604 GRCh37 Chromosome 10, 6053286: 6053286
22 IL2RA NM_000417.2(IL2RA): c.*1549C> T single nucleotide variant Benign rs12722604 GRCh38 Chromosome 10, 6011323: 6011323
23 IL2RA NM_000417.2(IL2RA): c.*1186C> T single nucleotide variant Uncertain significance rs12722603 GRCh37 Chromosome 10, 6053649: 6053649
24 IL2RA NM_000417.2(IL2RA): c.*1186C> T single nucleotide variant Uncertain significance rs12722603 GRCh38 Chromosome 10, 6011686: 6011686
25 IL2RA NM_000417.2(IL2RA): c.*1041C> T single nucleotide variant Uncertain significance rs141524746 GRCh37 Chromosome 10, 6053794: 6053794
26 IL2RA NM_000417.2(IL2RA): c.*1041C> T single nucleotide variant Uncertain significance rs141524746 GRCh38 Chromosome 10, 6011831: 6011831
27 IL2RA NM_000417.2(IL2RA): c.*888C> T single nucleotide variant Uncertain significance rs12722716 GRCh37 Chromosome 10, 6053947: 6053947
28 IL2RA NM_000417.2(IL2RA): c.*888C> T single nucleotide variant Uncertain significance rs12722716 GRCh38 Chromosome 10, 6011984: 6011984
29 IL2RA NM_000417.2(IL2RA): c.584-6C> T single nucleotide variant Uncertain significance rs201675947 GRCh37 Chromosome 10, 6061910: 6061910
30 IL2RA NM_000417.2(IL2RA): c.584-6C> T single nucleotide variant Uncertain significance rs201675947 GRCh38 Chromosome 10, 6019947: 6019947
31 IL2RA NM_000417.2(IL2RA): c.*1650G> A single nucleotide variant Uncertain significance rs886047071 GRCh38 Chromosome 10, 6011222: 6011222
32 IL2RA NM_000417.2(IL2RA): c.*1650G> A single nucleotide variant Uncertain significance rs886047071 GRCh37 Chromosome 10, 6053185: 6053185
33 IL2RA NM_000417.2(IL2RA): c.*1539T> C single nucleotide variant Uncertain significance rs886047074 GRCh37 Chromosome 10, 6053296: 6053296
34 IL2RA NM_000417.2(IL2RA): c.*1539T> C single nucleotide variant Uncertain significance rs886047074 GRCh38 Chromosome 10, 6011333: 6011333
35 IL2RA NM_000417.2(IL2RA): c.*1454A> G single nucleotide variant Uncertain significance rs886047075 GRCh38 Chromosome 10, 6011418: 6011418
36 IL2RA NM_000417.2(IL2RA): c.*1454A> G single nucleotide variant Uncertain significance rs886047075 GRCh37 Chromosome 10, 6053381: 6053381
37 IL2RA NM_000417.2(IL2RA): c.*1154_*1158dupAATTA duplication Uncertain significance rs543983290 GRCh37 Chromosome 10, 6053677: 6053681
38 IL2RA NM_000417.2(IL2RA): c.*1154_*1158dupAATTA duplication Uncertain significance rs543983290 GRCh38 Chromosome 10, 6011714: 6011718
39 IL2RA NM_000417.2(IL2RA): c.*414C> T single nucleotide variant Uncertain significance rs886047078 GRCh37 Chromosome 10, 6054421: 6054421
40 IL2RA NM_000417.2(IL2RA): c.*414C> T single nucleotide variant Uncertain significance rs886047078 GRCh38 Chromosome 10, 6012458: 6012458
41 IL2RA NM_000417.2(IL2RA): c.*103C> T single nucleotide variant Uncertain significance rs886047080 GRCh37 Chromosome 10, 6054732: 6054732
42 IL2RA NM_000417.2(IL2RA): c.*103C> T single nucleotide variant Uncertain significance rs886047080 GRCh38 Chromosome 10, 6012769: 6012769
43 IL2RA NM_000417.2(IL2RA): c.*93G> A single nucleotide variant Uncertain significance rs886047081 GRCh37 Chromosome 10, 6054742: 6054742
44 IL2RA NM_000417.2(IL2RA): c.*93G> A single nucleotide variant Uncertain significance rs886047081 GRCh38 Chromosome 10, 6012779: 6012779
45 IL2RA NM_000417.2(IL2RA): c.*70G> A single nucleotide variant Likely benign rs12722600 GRCh37 Chromosome 10, 6054765: 6054765
46 IL2RA NM_000417.2(IL2RA): c.*70G> A single nucleotide variant Likely benign rs12722600 GRCh38 Chromosome 10, 6012802: 6012802
47 IL2RA NM_000417.2(IL2RA): c.787C> T (p.Arg263Trp) single nucleotide variant Uncertain significance rs140088691 GRCh37 Chromosome 10, 6060023: 6060023
48 IL2RA NM_000417.2(IL2RA): c.787C> T (p.Arg263Trp) single nucleotide variant Uncertain significance rs140088691 GRCh38 Chromosome 10, 6018060: 6018060
49 IL2RA NM_000417.2(IL2RA): c.757G> A (p.Val253Ile) single nucleotide variant Uncertain significance rs143550766 GRCh37 Chromosome 10, 6060053: 6060053
50 IL2RA NM_000417.2(IL2RA): c.757G> A (p.Val253Ile) single nucleotide variant Uncertain significance rs143550766 GRCh38 Chromosome 10, 6018090: 6018090

Expression for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Search GEO for disease gene expression data for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity.

Pathways for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

GO Terms for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Sources for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

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