IMD41
MCID: IMM122
MIFTS: 32

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 56 73
Interleukin 2 Receptor, Alpha, Deficiency of 56 29 6 39 71
Il2ra Deficiency 56 73
Cd25 Deficiency 56 73
Imd41 56 73
Interleukin-2 Receptor, Alpha Chain, Deficiency of 13
Interleukin-2 Receptor Alpha Chain Deficiency 58
Immunodeficiency Due to Cd25 Deficiency 58
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:

56
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


External Ids:

OMIM 56 606367
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 D81.2
Orphanet 58 ORPHA169100
MedGen 41 C1853392
UMLS 71 C1853392

Summaries for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

OMIM : 56 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 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. 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 hypothyroidism and diabetes mellitus

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:

# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
3 autosomal recessive disease 9.8
4 primary biliary cirrhosis 9.8
5 dermatitis 9.8
6 bronchiolitis 9.8
7 severe combined immunodeficiency 9.8
8 polyendocrinopathy 9.8

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 18)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 occasional (7.5%) HP:0000821
2 diabetes mellitus 31 occasional (7.5%) HP:0000819
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 recurrent respiratory infections 31 HP:0002205
6 immunodeficiency 31 HP:0002721
7 alopecia 31 HP:0001596
8 chronic diarrhea 31 HP:0002028
9 eczema 31 HP:0000964
10 lymphadenopathy 31 HP:0002716
11 hepatosplenomegaly 31 HP:0001433
12 decreased circulating iga level 31 HP:0002720
13 autoimmune hemolytic anemia 31 HP:0001890
14 recurrent bacterial infections 31 HP:0002718
15 recurrent fungal infections 31 HP:0002841
16 villous atrophy 31 HP:0011473
17 decrease in t cell count 31 HP:0005403
18 recurrent viral infections 31 HP:0004429

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Skin, T Cells, Lung, B Cells

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. 56 6
24116927 2014
2
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. 6 56
23416241 2013
3
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. 6 56
17196245 2007
4
Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. 56 6
9096364 1997
5
Human IL-2 receptor alpha chain deficiency. 56
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 126) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL2RA NM_000417.2(IL2RA):c.246C>A (p.Cys82Ter)SNV Pathogenic 657558 10:6067807-6067807 10:6025844-6025844
2 IL2RA NM_000417.2(IL2RA):c.62_64+1delshort repeat Pathogenic 14668 rs886041032 10:6104050-6104053 10:6062087-6062090
3 IL2RA NM_000417.2(IL2RA):c.301C>T (p.Gln101Ter)SNV Pathogenic 203515 rs886041037 10:6066273-6066273 10:6024310-6024310
4 IL2RA NM_000417.2(IL2RA):c.692dup (p.Thr232fs)duplication Pathogenic 203516 rs886041038 10:6061425-6061426 10:6019462-6019463
5 IL2RA NM_001308242.2(IL2RA):c.368-1623G>ASNV Pathogenic 203517 rs796051887 10:6063527-6063527 10:6021564-6021564
6 IL2RA NM_000417.2(IL2RA):c.122A>C (p.Tyr41Ser)SNV Pathogenic 203518 rs796051888 10:6067931-6067931 10:6025968-6025968
7 IL2RA NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr)SNV Likely pathogenic 802558 10:6067953-6067953 10:6025990-6025990
8 IL2RA NM_000417.2(IL2RA):c.272C>T (p.Thr91Met)SNV Conflicting interpretations of pathogenicity 432884 rs72650666 10:6066302-6066302 10:6024339-6024339
9 IL2RA NM_000417.2(IL2RA):c.584-8deldeletion Conflicting interpretations of pathogenicity 626117 rs748515506 10:6061912-6061912 10:6019949-6019949
10 IL2RA NM_000417.3(IL2RA):c.693G>A (p.Glu231=)SNV Conflicting interpretations of pathogenicity 732865 10:6061425-6061425 10:6019462-6019462
11 IL2RA NM_000417.3(IL2RA):c.777C>A (p.Leu259=)SNV Conflicting interpretations of pathogenicity 710776 10:6060033-6060033 10:6018070-6018070
12 IL2RA NM_000417.2(IL2RA):c.584-6C>TSNV Conflicting interpretations of pathogenicity 300255 rs201675947 10:6061910-6061910 10:6019947-6019947
13 IL2RA NM_000417.2(IL2RA):c.*1650G>ASNV Uncertain significance 300219 rs886047071 10:6053185-6053185 10:6011222-6011222
14 IL2RA NM_000417.2(IL2RA):c.*1539T>CSNV Uncertain significance 300223 rs886047074 10:6053296-6053296 10:6011333-6011333
15 IL2RA NM_000417.2(IL2RA):c.*1454A>GSNV Uncertain significance 300225 rs886047075 10:6053381-6053381 10:6011418-6011418
16 IL2RA NM_000417.2(IL2RA):c.*1154_*1158dupduplication Uncertain significance 300228 rs543983290 10:6053676-6053677 10:6011713-6011714
17 IL2RA NM_000417.2(IL2RA):c.*414C>TSNV Uncertain significance 300243 rs886047078 10:6054421-6054421 10:6012458-6012458
18 IL2RA NM_000417.2(IL2RA):c.*103C>TSNV Uncertain significance 300246 rs886047080 10:6054732-6054732 10:6012769-6012769
19 IL2RA NM_000417.2(IL2RA):c.*93G>ASNV Uncertain significance 300247 rs886047081 10:6054742-6054742 10:6012779-6012779
20 IL2RA NM_000417.2(IL2RA):c.*1186C>TSNV Uncertain significance 300227 rs12722603 10:6053649-6053649 10:6011686-6011686
21 IL2RA NM_000417.2(IL2RA):c.*1041C>TSNV Uncertain significance 300230 rs141524746 10:6053794-6053794 10:6011831-6011831
22 IL2RA NM_000417.2(IL2RA):c.787C>T (p.Arg263Trp)SNV Uncertain significance 300249 rs140088691 10:6060023-6060023 10:6018060-6018060
23 IL2RA NM_000417.2(IL2RA):c.757G>A (p.Val253Ile)SNV Uncertain significance 300250 rs143550766 10:6060053-6060053 10:6018090-6018090
24 IL2RA NM_000417.2(IL2RA):c.*2055T>CSNV Uncertain significance 300212 rs561032746 10:6052780-6052780 10:6010817-6010817
25 IL2RA NM_000417.2(IL2RA):c.*1974C>TSNV Uncertain significance 300214 rs12722720 10:6052861-6052861 10:6010898-6010898
26 IL2RA NM_000417.2(IL2RA):c.*1574C>TSNV Uncertain significance 300221 rs886047073 10:6053261-6053261 10:6011298-6011298
27 IL2RA NM_000417.2(IL2RA):c.*1026G>TSNV Uncertain significance 300231 rs28360484 10:6053809-6053809 10:6011846-6011846
28 IL2RA NM_000417.2(IL2RA):c.*889G>ASNV Uncertain significance 300235 rs147669116 10:6053946-6053946 10:6011983-6011983
29 IL2RA NM_000417.2(IL2RA):c.*767C>TSNV Uncertain significance 300238 rs143416542 10:6054068-6054068 10:6012105-6012105
30 IL2RA NM_000417.2(IL2RA):c.*410_*411deldeletion Uncertain significance 300244 rs886047079 10:6054424-6054425 10:6012461-6012462
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_000417.2(IL2RA):c.669G>A (p.Gln223=)SNV Uncertain significance 300253 rs539966138 10:6061449-6061449 10:6019486-6019486
33 IL2RA NM_000417.2(IL2RA):c.167G>A (p.Arg56His)SNV Uncertain significance 300260 rs886047083 10:6067886-6067886 10:6025923-6025923
34 IL2RA NM_000417.2(IL2RA):c.*884C>TSNV Uncertain significance 300237 rs886047076 10:6053951-6053951 10:6011988-6011988
35 IL2RA NM_000417.2(IL2RA):c.*676C>TSNV Uncertain significance 300240 rs566194606 10:6054159-6054159 10:6012196-6012196
36 IL2RA NM_000417.2(IL2RA):c.*672A>GSNV Uncertain significance 300241 rs886047077 10:6054163-6054163 10:6012200-6012200
37 IL2RA NM_000417.2(IL2RA):c.*444T>ASNV Uncertain significance 300242 rs12722601 10:6054391-6054391 10:6012428-6012428
38 IL2RA NM_000417.2(IL2RA):c.427G>A (p.Val143Met)SNV Uncertain significance 300257 rs886047082 10:6063597-6063597 10:6021634-6021634
39 IL2RA NM_000417.2(IL2RA):c.656-14T>ASNV Uncertain significance 300254 rs74162097 10:6061476-6061476 10:6019513-6019513
40 IL2RA NM_000417.2(IL2RA):c.-211C>GSNV Uncertain significance 300262 rs886047084 10:6104325-6104325 10:6062362-6062362
41 IL2RA NM_000417.3(IL2RA):c.*963A>CSNV Uncertain significance 878564 10:6053872-6053872 10:6011909-6011909
42 IL2RA NM_000417.3(IL2RA):c.*895T>ASNV Uncertain significance 878565 10:6053940-6053940 10:6011977-6011977
43 IL2RA NM_000417.3(IL2RA):c.*599C>GSNV Uncertain significance 879156 10:6054236-6054236 10:6012273-6012273
44 IL2RA NM_000417.3(IL2RA):c.*513T>CSNV Uncertain significance 879157 10:6054322-6054322 10:6012359-6012359
45 IL2RA NM_000417.3(IL2RA):c.*471G>ASNV Uncertain significance 879158 10:6054364-6054364 10:6012401-6012401
46 IL2RA NM_000417.3(IL2RA):c.*261A>GSNV Uncertain significance 880358 10:6054574-6054574 10:6012611-6012611
47 IL2RA NM_000417.2(IL2RA):c.182G>T (p.Gly61Val)SNV Uncertain significance 652352 10:6067871-6067871 10:6025908-6025908
48 IL2RA NM_000417.2(IL2RA):c.655+3G>ASNV Uncertain significance 656865 10:6061830-6061830 10:6019867-6019867
49 IL2RA NM_000417.2(IL2RA):c.256+5_256+13deldeletion Uncertain significance 649910 10:6067784-6067792 10:6025821-6025829
50 IL2RA NM_000417.2(IL2RA):c.*2178T>ASNV Uncertain significance 300210 rs886047070 10:6052657-6052657 10:6010694-6010694

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

GO Terms for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

Sources for Immunodeficiency 41 with Lymphoproliferation and Autoimmunity

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7 CNVD
9 Cosmic
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11 DGIdb
17 EFO
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32 ICD10
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35 IUPHAR
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43 MeSH
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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