ADMIO1
MCID: ATM094
MIFTS: 26

Autoimmune Disease, Multisystem, Infantile-Onset, 1 (ADMIO1)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autoimmune Disease, Multisystem, Infantile-Onset, 1

MalaCards integrated aliases for Autoimmune Disease, Multisystem, Infantile-Onset, 1:

Name: Autoimmune Disease, Multisystem, Infantile-Onset, 1 57 72 29 6
Admio1 57 72
Stat3-Related Early-Onset Multisystem Autoimmune Disease 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
variable features
most cases result from a de novo mutation


HPO:

31
autoimmune disease, multisystem, infantile-onset, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset infantile onset childhood onset neonatal onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare systemic and rhumatological diseases
Rare haematological diseases
Rare immunological diseases


Summaries for Autoimmune Disease, Multisystem, Infantile-Onset, 1

OMIM® : 57 Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). (615952) (Updated 05-Apr-2021)

MalaCards based summary : Autoimmune Disease, Multisystem, Infantile-Onset, 1, is also known as admio1. An important gene associated with Autoimmune Disease, Multisystem, Infantile-Onset, 1 is STAT3 (Signal Transducer And Activator Of Transcription 3). Affiliated tissues include t cells, and related phenotypes are hypothyroidism and abnormality of the dentition

UniProtKB/Swiss-Prot : 72 Autoimmune disease, multisystem, infantile-onset, 1: A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty.

Related Diseases for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Symptoms & Phenotypes for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Human phenotypes related to Autoimmune Disease, Multisystem, Infantile-Onset, 1:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 very rare (1%) HP:0000821
2 abnormality of the dentition 31 very rare (1%) HP:0000164
3 short stature 31 very rare (1%) HP:0004322
4 delayed puberty 31 very rare (1%) HP:0000823
5 type i diabetes mellitus 31 very rare (1%) HP:0100651
6 recurrent upper respiratory tract infections 31 very rare (1%) HP:0002788
7 celiac disease 31 very rare (1%) HP:0002608
8 exocrine pancreatic insufficiency 31 very rare (1%) HP:0001738
9 achalasia 31 very rare (1%) HP:0002571
10 eczema 31 very rare (1%) HP:0000964
11 hepatosplenomegaly 31 very rare (1%) HP:0001433
12 autoimmune hemolytic anemia 31 very rare (1%) HP:0001890
13 autoimmune thrombocytopenia 31 very rare (1%) HP:0001973
14 polyarticular arthritis 31 very rare (1%) HP:0005764
15 hodgkin lymphoma 31 very rare (1%) HP:0012189
16 interstitial pneumonitis 31 very rare (1%) HP:0006515
17 neutropenia in presence of anti-neutropil antibodies 31 very rare (1%) HP:0001904
18 recurrent lower respiratory tract infections 31 very rare (1%) HP:0002783
19 decreased circulating antibody level 31 very rare (1%) HP:0004313
20 desquamative interstitial pneumonitis 31 very rare (1%) HP:0005942

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skin Nails Hair Skin:
eczema
dermatitis

Immunology:
recurrent infections (in some patients)
hypogammaglobulinemia
serum autoantibodies
altered t-cell regulation
increased numbers of double-negative t cells (cd4-, cd8-)

Head And Neck Teeth:
dental anomalies (in some patients)

Skeletal:
arthritis (in some patients)

Abdomen Gastrointestinal:
celiac disease
autoimmune enteropathy

Hematology:
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune cytopenia

Endocrine Features:
hypothyroidism (in some patients)
delayed puberty (in some patients)
type 1 diabetes mellitus

Respiratory Lung:
interstitial pneumonitis (in some patients)

Neoplasia:
increased susceptibility to large granular lymphocytic t-cell leukemia

Clinical features from OMIM®:

615952 (Updated 05-Apr-2021)

Drugs & Therapeutics for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Search Clinical Trials , NIH Clinical Center for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Genetic Tests for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Genetic tests related to Autoimmune Disease, Multisystem, Infantile-Onset, 1:

# Genetic test Affiliating Genes
1 Autoimmune Disease, Multisystem, Infantile-Onset, 1 29 STAT3

Anatomical Context for Autoimmune Disease, Multisystem, Infantile-Onset, 1

MalaCards organs/tissues related to Autoimmune Disease, Multisystem, Infantile-Onset, 1:

40
T Cells

Publications for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Articles related to Autoimmune Disease, Multisystem, Infantile-Onset, 1:

# Title Authors PMID Year
1
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 6 57
25359994 2015
2
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. 57 6
25349174 2015
3
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 6 57
25038750 2014
4
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. 57
30092289 2018
5
[Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation]. 6
28072956 2017
6
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. 6
27799162 2016
7
Distinct mutations at the same positions of STAT3 cause either loss or gain of function. 6
27345172 2016
8
Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES). 6
21288777 2011
9
STAT3 mutations in the hyper-IgE syndrome. 6
17881745 2007

Variations for Autoimmune Disease, Multisystem, Infantile-Onset, 1

ClinVar genetic disease variations for Autoimmune Disease, Multisystem, Infantile-Onset, 1:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT3 NM_139276.2(STAT3):c.454C>T (p.Arg152Trp) SNV Pathogenic 224846 rs869312890 GRCh37: 17:40491346-40491346
GRCh38: 17:42339328-42339328
2 STAT3 NM_139276.2(STAT3):c.1057G>T (p.Val353Phe) SNV Pathogenic 224847 rs869312891 GRCh37: 17:40483542-40483542
GRCh38: 17:42331524-42331524
3 STAT3 NM_139276.2(STAT3):c.1260T>G (p.Asn420Lys) SNV Pathogenic 224849 rs869312893 GRCh37: 17:40481449-40481449
GRCh38: 17:42329431-42329431
4 STAT3 NM_003150.4(STAT3):c.1175A>G (p.Lys392Arg) SNV Pathogenic 144030 rs587777648 GRCh37: 17:40481630-40481630
GRCh38: 17:42329612-42329612
5 STAT3 NM_003150.4(STAT3):c.1938C>G (p.Asn646Lys) SNV Pathogenic 144031 rs587777649 GRCh37: 17:40474463-40474463
GRCh38: 17:42322445-42322445
6 STAT3 NM_003150.4(STAT3):c.1974G>C (p.Lys658Asn) SNV Pathogenic 144032 rs587777650 GRCh37: 17:40474427-40474427
GRCh38: 17:42322409-42322409
7 STAT3 NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys) SNV Pathogenic 36784 rs193922717 GRCh37: 17:40481466-40481466
GRCh38: 17:42329448-42329448
8 STAT3 NM_139276.2(STAT3):c.1261G>A (p.Gly421Arg) SNV Pathogenic 224844 rs869312888 GRCh37: 17:40481448-40481448
GRCh38: 17:42329430-42329430
9 STAT3 NM_139276.2(STAT3):c.1032G>C (p.Gln344His) SNV Pathogenic 224843 rs869312887 GRCh37: 17:40485708-40485708
GRCh38: 17:42333690-42333690
10 STAT3 NM_139276.2(STAT3):c.2147C>T (p.Thr716Met) SNV Pathogenic 224848 rs869312892 GRCh37: 17:40468917-40468917
GRCh38: 17:42316899-42316899
11 STAT3 NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile) SNV Pathogenic 224845 rs869312889 GRCh37: 17:40474413-40474413
GRCh38: 17:42322395-42322395
12 STAT3 NM_139276.2(STAT3):c.2107G>A (p.Ala703Thr) SNV Pathogenic 224850 rs869312894 GRCh37: 17:40469237-40469237
GRCh38: 17:42317219-42317219
13 STAT3 NM_139276.2(STAT3):c.1268G>A (p.Arg423Gln) SNV Pathogenic 18306 rs113994137 GRCh37: 17:40481441-40481441
GRCh38: 17:42329423-42329423
14 STAT3 NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) SNV Likely pathogenic 977089 GRCh37: 17:40474427-40474427
GRCh38: 17:42322409-42322409
15 STAT3 NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg) SNV Likely pathogenic 973671 GRCh37: 17:40474428-40474428
GRCh38: 17:42322410-42322410
16 STAT3 NM_139276.3(STAT3):c.1310A>T (p.His437Leu) SNV Likely pathogenic 976227 GRCh37: 17:40478189-40478189
GRCh38: 17:42326171-42326171
17 STAT3 NM_139276.3(STAT3):c.1233+19C>T SNV Uncertain significance 930424 GRCh37: 17:40481553-40481553
GRCh38: 17:42329535-42329535
18 STAT3 NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr) SNV Uncertain significance 1027740 GRCh37: 17:40481775-40481775
GRCh38: 17:42329757-42329757
19 STAT3 NM_139276.2(STAT3):c.373C>G (p.Gln125Glu) SNV Uncertain significance 546794 rs574370336 GRCh37: 17:40491427-40491427
GRCh38: 17:42339409-42339409
20 STAT3 NM_139276.2(STAT3):c.2228G>T (p.Gly743Val) SNV Uncertain significance 514074 rs151033214 GRCh37: 17:40468836-40468836
GRCh38: 17:42316818-42316818

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Disease, Multisystem, Infantile-Onset, 1:

72
# Symbol AA change Variation ID SNP ID
1 STAT3 p.Lys392Arg VAR_071885 rs587777648
2 STAT3 p.Asn646Lys VAR_071886 rs587777649
3 STAT3 p.Lys658Asn VAR_071887 rs587777650
4 STAT3 p.Thr716Met VAR_071888 rs869312892
5 STAT3 p.Pro330Ser VAR_078445

Expression for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Search GEO for disease gene expression data for Autoimmune Disease, Multisystem, Infantile-Onset, 1.

Pathways for Autoimmune Disease, Multisystem, Infantile-Onset, 1

GO Terms for Autoimmune Disease, Multisystem, Infantile-Onset, 1

Sources for Autoimmune Disease, Multisystem, Infantile-Onset, 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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