IMD41
MCID: IMM122
MIFTS: 52

Immunodeficiency 41 with Lymphoproliferation and Autoimmunity (IMD41)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin 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 12 73
Interleukin 2 Receptor, Alpha, Deficiency of 57 29 6 44 39 71
Il2ra Deficiency 57 12 73
Cd25 Deficiency 57 12 73
Imd41 57 12 73
Interleukin-2 Receptor Alpha Chain Deficiency 12 58
Immunodeficiency Due to Cd25 Deficiency 12 58
Immunodeficiency 41 12 15
Interleukin-2 Receptor, Alpha Chain, Deficiency of 13
Interleukin 2 Receptor Alpha Deficiency 73

Characteristics:

Orphanet epidemiological data:

58
immunodeficiency due to cd25 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
immunodeficiency 41 with lymphoproliferation and autoimmunity:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


Summaries for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Disease Ontology : 12 A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has material basis in homozygous or compound heterozygous mutation in IL2RA on chromosome 10p15.1.

MalaCards based summary : Immunodeficiency 41 with Lymphoproliferation and Autoimmunity, also known as interleukin 2 receptor, alpha, deficiency of, is related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity and dermatitis. An important gene associated with Immunodeficiency 41 with Lymphoproliferation and Autoimmunity is IL2RA (Interleukin 2 Receptor Subunit Alpha), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include t cells and lung, and related phenotypes are hypothyroidism and recurrent respiratory infections

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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:

(show top 50) (show all 294)
# Related Disease Score Top Affiliating Genes
1 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.6 FOXP3 CTLA4
2 dermatitis 29.0 IL2 FOXP3 CTLA4 CD8A CD4
3 severe combined immunodeficiency 28.4 STAT5B STAT5A IL7R IL2RG IL2RA IL2
4 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 27.5 TNFRSF18 STAT5B STAT5A IL7R IL2RA IL2
5 combined immunodeficiency 26.7 STAT5B STAT5A IL7R IL2RG IL2RA IL2
6 autoimmune enteropathy 10.3 IL2RA FOXP3
7 pilonidal sinus 10.3 IL2RA CD4
8 adenohypophysitis 10.3 IL2RA CD4
9 caplan's syndrome 10.3 FOXP3 CD4
10 autoimmune atherosclerosis 10.3 FOXP3 CD4
11 subacute lymphocytic thyroiditis 10.3 IL2 CD4
12 suppurative lymphadenitis 10.3 DOCK8 CD4
13 blepharoconjunctivitis 10.3 DOCK8 CD4
14 splenic tuberculosis 10.2 IL2 CD4
15 external ear disease 10.2 DOCK8 CD4
16 otitis externa 10.2 DOCK8 CD4
17 autoimmune neuropathy 10.2 FOXP3 CD4
18 red cell aplasia 10.2 IL2RA IL2
19 lung abscess 10.2 DOCK8 CD4
20 wells syndrome 10.2 IL2RA IL2
21 t-cell large granular lymphocyte leukemia 10.2 STAT5B IL2RA IL2
22 immunodeficiency 31c 10.2 IL2RA IL2 FOXP3
23 toxicodendron dermatitis 10.2 IL2 CD8A
24 glioblastoma neural subtype 10.2 STAT5B STAT5A IL2
25 trichomoniasis 10.2 IL2 CD4
26 systemic mastocytosis 10.2 STAT5B STAT5A IL2RA
27 mastocytosis 10.2 STAT5B STAT5A IL2RA
28 cork-handlers' disease 10.2 CD8A CD4
29 necrotic uveal melanoma 10.2 CD8A CD4
30 autoimmune vasculitis 10.2 IL2 CD4
31 hypersplenism 10.2 IL2RA FOXP3 CD4
32 tuberculoid leprosy 10.2 IL2RA IL2 CD4
33 early yaws 10.2 CD8A CD4
34 ventilation pneumonitis 10.2 CD8A CD4
35 hypereosinophilic syndrome 10.2 STAT5B IL2RA IL2
36 pleural tuberculosis 10.2 IL2RA IL2 CD4
37 diffuse infiltrative lymphocytosis syndrome 10.2 CD8A CD4
38 latent syphilis 10.2 CD8A CD4
39 type 1 diabetes mellitus 23 10.2 CD8A CD4
40 autoimmune lymphoproliferative syndrome, type iia 10.2 CD8A CD4
41 parapsoriasis 10.2 CD8A CD4
42 gastroduodenitis 10.2 CD8A CD4
43 duodenitis 10.2 CD8A CD4
44 primary syphilis 10.2 CD8A CD4
45 norwegian scabies 10.2 CD8A CD4
46 bird fancier's lung 10.2 CD8A CD4
47 variola major 10.2 CD8A CD4
48 follicular mucinosis 10.1 CD8A CD4
49 tertiary syphilis 10.1 CD8A CD4
50 esophageal tuberculosis 10.1 IL2RA CTLA4

Graphical network of the top 20 diseases related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:



Diseases related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Symptoms & Phenotypes for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Human phenotypes related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 very rare (1%) HP:0000821
2 recurrent respiratory infections 31 very rare (1%) HP:0002205
3 type i diabetes mellitus 31 very rare (1%) HP:0100651
4 prominent forehead 31 very rare (1%) HP:0011220
5 failure to thrive in infancy 31 very rare (1%) HP:0001531
6 thyroiditis 31 very rare (1%) HP:0100646
7 hemolytic anemia 31 very rare (1%) HP:0001878
8 cellulitis 31 very rare (1%) HP:0100658
9 chronic diarrhea 31 very rare (1%) HP:0002028
10 eczema 31 very rare (1%) HP:0000964
11 erythroderma 31 very rare (1%) HP:0001019
12 lymphadenopathy 31 very rare (1%) HP:0002716
13 hepatosplenomegaly 31 very rare (1%) HP:0001433
14 pulmonary infiltrates 31 very rare (1%) HP:0002113
15 psoriasiform dermatitis 31 very rare (1%) HP:0003765
16 decreased circulating iga level 31 very rare (1%) HP:0002720
17 alopecia universalis 31 very rare (1%) HP:0002289
18 patchy alopecia 31 very rare (1%) HP:0002232
19 recurrent bacterial infections 31 very rare (1%) HP:0002718
20 recurrent viral infections 31 very rare (1%) HP:0004429
21 scaling skin 31 very rare (1%) HP:0040189
22 b lymphocytopenia 31 very rare (1%) HP:0010976
23 villous atrophy 31 very rare (1%) HP:0011473
24 concave nasal ridge 31 very rare (1%) HP:0011120
25 enlarged tonsils 31 very rare (1%) HP:0030812
26 chronic oral candidiasis 31 very rare (1%) HP:0009098
27 severe varicella zoster infection 31 very rare (1%) HP:0032170
28 decreased lymphocyte proliferation in response to anti-cd3 31 very rare (1%) HP:0031382
29 t lymphocytopenia 31 very rare (1%) HP:0005403
30 increased circulating ige level 31 very rare (1%) HP:0003212
31 decreased specific anti-polysaccharide antibody level 31 very rare (1%) HP:0002848
32 decreased cd4:cd8 ratio 31 very rare (1%) HP:0033222
33 decreased proportion of cd4+cd25+ regulatory t cells 31 very rare (1%) HP:0020113
34 immunodeficiency 31 HP:0002721

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Spleen:
splenomegaly

Respiratory:
recurrent respiratory infections

Skin Nails Hair Hair:
alopecia

Skin Nails Hair Skin:
eczema
dermatitis

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

Abdomen Liver:
hepatomegaly

Immunology:
immunodeficiency
lymphadenopathy
autoimmune disorders (in some patients)
recurrent viral, bacterial, and fungal infections
increased nonspecific cd8+ 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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 CD4 CD8A DOCK8 FOXP3 IL2 IL2RG
2 hematopoietic system MP:0005397 10.07 CD4 CD8A CTLA4 DOCK8 FOXP3 IL15
3 endocrine/exocrine gland MP:0005379 10.06 CD4 CD8A CTLA4 FOXP3 IL15 IL2
4 immune system MP:0005387 9.97 CD4 CD8A CTLA4 DOCK8 FOXP3 IL15
5 digestive/alimentary MP:0005381 9.85 CD4 CTLA4 FOXP3 IL2 IL2RA IL2RG
6 mortality/aging MP:0010768 9.65 CD4 CD8A CTLA4 FOXP3 IL15 IL2
7 normal MP:0002873 9.23 CD4 CD8A CTLA4 FOXP3 IL2RG IL7R

Drugs & Therapeutics for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

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

Cochrane evidence based reviews: interleukin 2 receptor, alpha, deficiency of

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:

40
T Cells, Lung

Publications for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Articles related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity:

# Title Authors PMID Year
1
Follicular bronchiolitis as phenotype associated with CD25 deficiency. 6 57
24116927 2014
2
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. 57 6
23416241 2013
3
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. 57 6
17196245 2007
4
Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. 57 6
9096364 1997
5
Human IL-2 receptor alpha chain deficiency. 57
10879793 2000
6
Effective and safe treatment of a novel IL2RA deficiency with rapamycin. 61
31605764 2020

Variations for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

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

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL2RA NM_000417.2(IL2RA):c.62_64+1del Microsatellite Pathogenic 14668 rs886041032 10:6104050-6104053 10:6062087-6062090
2 IL2RA NM_000417.2(IL2RA):c.246C>A (p.Cys82Ter) SNV Pathogenic 657558 rs774803573 10:6067807-6067807 10:6025844-6025844
3 IL2RA NM_000417.2(IL2RA):c.692dup (p.Thr232fs) Duplication Pathogenic 203516 rs886041038 10:6061425-6061426 10:6019462-6019463
4 IL2RA NM_001308242.2(IL2RA):c.368-1623G>A SNV Pathogenic 203517 rs796051887 10:6063527-6063527 10:6021564-6021564
5 IL2RA NM_000417.2(IL2RA):c.122A>C (p.Tyr41Ser) SNV Pathogenic 203518 rs796051888 10:6067931-6067931 10:6025968-6025968
6 IL2RA NM_000417.2(IL2RA):c.301C>T (p.Gln101Ter) SNV Pathogenic 203515 rs886041037 10:6066273-6066273 10:6024310-6024310
7 IL2RA NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) SNV Likely pathogenic 802558 rs773957702 10:6067953-6067953 10:6025990-6025990
8 IL2RA NM_000417.3(IL2RA):c.693G>A (p.Glu231=) SNV Conflicting interpretations of pathogenicity 732865 rs139266750 10:6061425-6061425 10:6019462-6019462
9 IL2RA NM_000417.3(IL2RA):c.777C>A (p.Leu259=) SNV Conflicting interpretations of pathogenicity 710776 rs554680869 10:6060033-6060033 10:6018070-6018070
10 IL2RA NM_000417.2(IL2RA):c.584-6C>T SNV Conflicting interpretations of pathogenicity 300255 rs201675947 10:6061910-6061910 10:6019947-6019947
11 IL2RA NM_000417.2(IL2RA):c.167G>A (p.Arg56His) SNV Uncertain significance 300260 rs886047083 10:6067886-6067886 10:6025923-6025923
12 IL2RA NM_000417.2(IL2RA):c.*444T>A SNV Uncertain significance 300242 rs12722601 10:6054391-6054391 10:6012428-6012428
13 IL2RA NM_000417.2(IL2RA):c.*1026G>T SNV Uncertain significance 300231 rs28360484 10:6053809-6053809 10:6011846-6011846
14 IL2RA NM_000417.2(IL2RA):c.669G>A (p.Gln223=) SNV Uncertain significance 300253 rs539966138 10:6061449-6061449 10:6019486-6019486
15 IL2RA NM_000417.2(IL2RA):c.*1154_*1158dup Duplication Uncertain significance 300228 rs543983290 10:6053676-6053677 10:6011713-6011714
16 IL2RA NM_000417.2(IL2RA):c.*1454A>G SNV Uncertain significance 300225 rs886047075 10:6053381-6053381 10:6011418-6011418
17 IL2RA NM_000417.2(IL2RA):c.*1650G>A SNV Uncertain significance 300219 rs886047071 10:6053185-6053185 10:6011222-6011222
18 IL2RA NM_000417.2(IL2RA):c.427G>A (p.Val143Met) SNV Uncertain significance 300257 rs886047082 10:6063597-6063597 10:6021634-6021634
19 IL2RA NM_000417.2(IL2RA):c.*2178T>A SNV Uncertain significance 300210 rs886047070 10:6052657-6052657 10:6010694-6010694
20 IL2RA NM_000417.2(IL2RA):c.757G>A (p.Val253Ile) SNV Uncertain significance 300250 rs143550766 10:6060053-6060053 10:6018090-6018090
21 IL2RA NM_000417.2(IL2RA):c.*93G>A SNV Uncertain significance 300247 rs886047081 10:6054742-6054742 10:6012779-6012779
22 IL2RA NM_000417.2(IL2RA):c.*1041C>T SNV Uncertain significance 300230 rs141524746 10:6053794-6053794 10:6011831-6011831
23 IL2RA NM_000417.2(IL2RA):c.*1186C>T SNV Uncertain significance 300227 rs12722603 10:6053649-6053649 10:6011686-6011686
24 IL2RA NM_000417.2(IL2RA):c.*767C>T SNV Uncertain significance 300238 rs143416542 10:6054068-6054068 10:6012105-6012105
25 IL2RA NM_000417.2(IL2RA):c.*672A>G SNV Uncertain significance 300241 rs886047077 10:6054163-6054163 10:6012200-6012200
26 IL2RA NM_000417.2(IL2RA):c.*1574C>T SNV Uncertain significance 300221 rs886047073 10:6053261-6053261 10:6011298-6011298
27 IL2RA NM_000417.2(IL2RA):c.-211C>G SNV Uncertain significance 300262 rs886047084 10:6104325-6104325 10:6062362-6062362
28 IL2RA NM_000417.2(IL2RA):c.*410_*411del Deletion Uncertain significance 300244 rs886047079 10:6054424-6054425 10:6012461-6012462
29 IL2RA NM_000417.2(IL2RA):c.656-14T>A SNV Uncertain significance 300254 rs74162097 10:6061476-6061476 10:6019513-6019513
30 IL2RA NM_000417.2(IL2RA):c.*889G>A SNV Uncertain significance 300235 rs147669116 10:6053946-6053946 10:6011983-6011983
31 IL2RA NM_000417.2(IL2RA):c.732C>T (p.Ala244=) SNV Uncertain significance 300252 rs779403244 10:6060078-6060078 10:6018115-6018115
32 IL2RA NM_000417.3(IL2RA):c.537G>T (p.Gln179His) SNV Uncertain significance 971966 10:6063487-6063487 10:6021524-6021524
33 IL2RA NM_000417.2(IL2RA):c.*414C>T SNV Uncertain significance 300243 rs886047078 10:6054421-6054421 10:6012458-6012458
34 IL2RA NM_000417.2(IL2RA):c.*1974C>T SNV Uncertain significance 300214 rs12722720 10:6052861-6052861 10:6010898-6010898
35 IL2RA NM_000417.2(IL2RA):c.*2055T>C SNV Uncertain significance 300212 rs561032746 10:6052780-6052780 10:6010817-6010817
36 IL2RA NM_000417.2(IL2RA):c.*1539T>C SNV Uncertain significance 300223 rs886047074 10:6053296-6053296 10:6011333-6011333
37 IL2RA NM_000417.2(IL2RA):c.*103C>T SNV Uncertain significance 300246 rs886047080 10:6054732-6054732 10:6012769-6012769
38 IL2RA NM_000417.2(IL2RA):c.*676C>T SNV Uncertain significance 300240 rs566194606 10:6054159-6054159 10:6012196-6012196
39 IL2RA NM_000417.2(IL2RA):c.*1575G>A SNV Uncertain significance 300220 rs886047072 10:6053260-6053260 10:6011297-6011297
40 IL2RA NM_000417.2(IL2RA):c.*884C>T SNV Uncertain significance 300237 rs886047076 10:6053951-6053951 10:6011988-6011988
41 IL2RA NM_000417.2(IL2RA):c.584-8del Deletion Uncertain significance 626117 rs748515506 10:6061912-6061912 10:6019949-6019949
42 IL2RA NM_000417.3(IL2RA):c.-26C>T SNV Uncertain significance 880405 10:6104140-6104140 10:6062177-6062177
43 IL2RA NM_000417.3(IL2RA):c.-68G>T SNV Uncertain significance 880406 10:6104182-6104182 10:6062219-6062219
44 IL2RA NM_000417.2(IL2RA):c.417T>G (p.Ile139Met) SNV Uncertain significance 641863 rs751445826 10:6063607-6063607 10:6021644-6021644
45 IL2RA NM_000417.2(IL2RA):c.256+5_256+13del Deletion Uncertain significance 649910 rs772838002 10:6067784-6067792 10:6025821-6025829
46 IL2RA NM_000417.2(IL2RA):c.773G>A (p.Gly258Glu) SNV Uncertain significance 655360 rs753797918 10:6060037-6060037 10:6018074-6018074
47 IL2RA NM_000417.2(IL2RA):c.332G>A (p.Ser111Asn) SNV Uncertain significance 655937 rs56054476 10:6066242-6066242 10:6024279-6024279
48 IL2RA NM_000417.2(IL2RA):c.655+3G>A SNV Uncertain significance 656865 rs200818520 10:6061830-6061830 10:6019867-6019867
49 IL2RA NM_000417.3(IL2RA):c.*599C>G SNV Uncertain significance 879156 10:6054236-6054236 10:6012273-6012273
50 IL2RA NM_000417.3(IL2RA):c.*513T>C SNV Uncertain significance 879157 10:6054322-6054322 10:6012359-6012359

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

73
# Symbol AA change Variation ID SNP ID
1 IL2RA p.Tyr41Ser VAR_074641 rs796051888
2 IL2RA p.Ser166Asn VAR_074642 rs796051887

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

Pathways related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 TNFRSF18 STAT5B STAT5A IL7R IL2RG IL2RA
2
Show member pathways
13.79 TNFRSF18 STAT5B STAT5A IL7R IL2RG IL2RA
3
Show member pathways
13.65 TNFRSF18 STAT5B STAT5A IL7R IL2RG IL2RA
4
Show member pathways
13.51 TNFRSF18 STAT5B STAT5A IL7R IL2RG IL2RA
5
Show member pathways
13.38 TNFRSF18 STAT5B STAT5A IL7R IL2RG IL2RA
6
Show member pathways
13.32 TNFRSF18 STAT5B STAT5A IL7R IL2RG IL2RA
7
Show member pathways
13.29 TNFRSF18 IL7R IL2RG IL2RA IL2 IL15
8
Show member pathways
12.87 STAT5B STAT5A CTLA4 CD8A CD4
9 12.86 STAT5B STAT5A IL7R IL2RG IL2RA IL2
10
Show member pathways
12.86 IL2RA IL2 IL15 FOXP3 CTLA4 CD8A
11
Show member pathways
12.79 STAT5B STAT5A IL2RG IL2RA IL2
12
Show member pathways
12.79 STAT5B STAT5A IL7R IL2RG IL2RA IL2
13
Show member pathways
12.61 STAT5B STAT5A IL2RG IL2RA IL2 FOXP3
14
Show member pathways
12.55 IL2 CTLA4 CD8A CD4
15
Show member pathways
12.53 STAT5B STAT5A IL2 CD4
16
Show member pathways
12.42 IL2RG IL2RA IL2 CTLA4 CD4
17
Show member pathways
12.4 STAT5B STAT5A IL7R IL2RG IL2RA IL2
18 12.37 TNFRSF18 STAT5B STAT5A IL2RA IL2 FOXP3
19 12.25 STAT5B STAT5A IL2RG IL2RA IL2 IL15
20
Show member pathways
12.13 STAT5B STAT5A IL2RG IL2RA IL2
21
Show member pathways
12.07 IL2RG IL2RA IL2
22 12.06 CTLA4 CD8A CD4
23 12.02 IL2 CD8A CD4
24 12.02 IL7R IL2RA IL2 IL15 CD8A CD4
25 11.96 IL7R IL2RA CD8A CD4
26
Show member pathways
11.96 STAT5A IL2RG IL2RA IL2 CD8A CD4
27
Show member pathways
11.91 STAT5B STAT5A IL2RG CD4
28
Show member pathways
11.82 STAT5B STAT5A IL2 CD4
29
Show member pathways
11.82 IL2RA IL2 FOXP3 CTLA4
30 11.8 IL7R IL2 CD8A CD4
31 11.79 STAT5B STAT5A IL2
32 11.75 STAT5B STAT5A CD4
33 11.74 TNFRSF18 IL2RA FOXP3 CTLA4
34 11.72 CTLA4 CD8A CD4
35 11.7 IL7R IL2RA IL2 IL15 CD8A CD4
36
Show member pathways
11.69 TNFRSF18 IL2RG IL2RA IL2 CD8A
37 11.66 STAT5B STAT5A IL2RG
38 11.58 STAT5B STAT5A IL7R IL2RA
39
Show member pathways
11.54 STAT5B STAT5A IL7R IL2RG IL2RA
40 11.48 IL7R IL2RG CD8A CD4
41
Show member pathways
11.46 STAT5B STAT5A IL2RG IL2RA IL2 FOXP3
42 11.38 IL2RG IL2RA IL2
43
Show member pathways
11.36 IL2RG IL2RA IL2 IL15 FOXP3
44 11.35 IL2 CTLA4 CD8A
45
Show member pathways
11.31 STAT5B STAT5A IL2RA
46 11.31 IL2 IL15 CD4
47 11.3 STAT5B STAT5A IL7R IL2RG
48 11.29 IL2RA IL2 CD4
49
Show member pathways
11.26 STAT5B STAT5A IL2RG IL2RA IL2
50 11.1 STAT5A IL2RG IL2RA IL2 FOXP3 CD4

GO Terms for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Cellular components related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.17 TNFRSF18 IL7R IL2RG IL2RA CTLA4 CD8A

Biological processes related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 TNFRSF18 STAT5B STAT5A IL7R IL2RG IL15
2 immune system process GO:0002376 10.04 IL2RA IL2 CTLA4 CD8A CD4
3 adaptive immune response GO:0002250 9.97 IL2 CTLA4 CD8A CD4
4 cell surface receptor signaling pathway GO:0007166 9.93 IL7R IL2RA CD8A CD4
5 immune response GO:0006955 9.86 IL7R IL2RG IL2RA IL2 IL15 CTLA4
6 cytokine-mediated signaling pathway GO:0019221 9.85 STAT5B STAT5A IL2RG IL2RA IL2 CD4
7 negative regulation of inflammatory response GO:0050728 9.83 IL2RA IL2 FOXP3
8 positive regulation of inflammatory response GO:0050729 9.79 STAT5B IL2 IL15
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 TNFRSF18 IL2 IL15
10 positive regulation of T cell proliferation GO:0042102 9.76 IL2RA IL2 IL15 CD4
11 T cell activation GO:0042110 9.73 FOXP3 CD8A CD4
12 negative regulation of T cell proliferation GO:0042130 9.72 IL2RA FOXP3 CTLA4
13 T cell differentiation GO:0030217 9.7 IL7R IL2 CD4
14 T cell homeostasis GO:0043029 9.69 STAT5B IL2RA FOXP3
15 macrophage differentiation GO:0030225 9.67 IL15 CD4
16 positive regulation of activated T cell proliferation GO:0042104 9.67 STAT5B IL2RA IL2
17 positive regulation of T cell differentiation GO:0045582 9.66 IL2RA IL2
18 lymph node development GO:0048535 9.65 IL7R IL15
19 positive regulation of interleukin-17 production GO:0032740 9.65 IL2 IL15
20 negative regulation of immune response GO:0050777 9.65 IL2RA FOXP3 CTLA4
21 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.64 STAT5B STAT5A
22 positive regulation of regulatory T cell differentiation GO:0045591 9.63 IL2 FOXP3
23 T cell mediated immunity GO:0002456 9.62 FOXP3 CD8A
24 interleukin-7-mediated signaling pathway GO:0038111 9.62 STAT5B STAT5A IL7R IL2RG
25 negative regulation of T-helper 17 cell differentiation GO:2000320 9.61 IL2 FOXP3
26 negative regulation of T cell apoptotic process GO:0070233 9.61 IL7R DOCK8
27 interleukin-9-mediated signaling pathway GO:0038113 9.61 STAT5B STAT5A IL2RG
28 positive regulation of natural killer cell proliferation GO:0032819 9.6 STAT5B IL15
29 positive regulation of natural killer cell differentiation GO:0032825 9.58 STAT5B IL15
30 positive regulation of tissue remodeling GO:0034105 9.58 IL2 IL15
31 negative regulation of lymphocyte proliferation GO:0050672 9.58 IL2RA IL2 FOXP3
32 taurine metabolic process GO:0019530 9.57 STAT5B STAT5A
33 regulation of regulatory T cell differentiation GO:0045589 9.55 TNFRSF18 IL2RA IL2 FOXP3 CTLA4
34 regulation of T cell homeostatic proliferation GO:0046013 9.54 IL2RA IL2
35 interleukin-15-mediated signaling pathway GO:0035723 9.35 STAT5B STAT5A IL2RG IL15 CD4
36 interleukin-2-mediated signaling pathway GO:0038110 9.02 STAT5B STAT5A IL2RG IL2RA IL2

Molecular functions related to Immunodeficiency 41 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-2 binding GO:0019976 9.16 IL2RG IL2RA
2 interleukin-2 receptor activity GO:0004911 8.96 IL2RG IL2RA
3 interleukin-7 receptor activity GO:0004917 8.62 IL7R IL2RG

Sources for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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