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Gene: Vsir MGI:1921298

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Gene Summary

Name:
V-set immunoregulatory receptor
Synonyms:
VISTA,  Dies1,  4632428N05Rik,  PD-1H

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Adult LacZ

LacZ Images Section

9 Images

View images

Human diseases caused by Vsir mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Vsir by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... OMIM:605258
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Increased circulating IgG level, Increased circulating ... OMIM:619220
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Splenomegaly, Bronchiectasis, Hepatosplenomegaly, Increased circ... OMIM:618534
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating... OMIM:308230
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Reduced isohemagglutinin level... OMIM:613493
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Ag... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Bronchiolitis obliterans, Increased circulating IgM leve... OMIM:617241
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 24
Decreased circulating IgG level, Respiratory tract infection, Defective T cell proliferation, Red... OMIM:615897
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... OMIM:614699
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation OMIM:615615
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... ORPHA:397596
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Decreased circulating total IgM, Decreased specific antibody response to polysaccha... OMIM:616452
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:619707
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucocutaneous can... ORPHA:98813
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun... OMIM:240500
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... OMIM:612692
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Inc... OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hepatomegaly, Dysgammaglobulinemia, Reduced natural killer cell... OMIM:308240
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Hepatomegaly OMIM:606445
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased... OMIM:300310
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Hepatosplenomegaly, Increased circulati... OMIM:209950
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... OMIM:619773
Immunodeficiency 44
Decreased circulating total IgM, Elevated circulating alanine aminotransferase concentration, Dec... OMIM:616636
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Increased circulating IgM level, Arthritis ORPHA:37748
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Decreased circulating IgA level OMIM:609529
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Recurrent upper respiratory tra... ORPHA:169154
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Thyroiditis, Uveitis, Increased circ... OMIM:617388
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Inc... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Increased circ... OMIM:618048
Immunodeficiency 62
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:618459
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Recurrent skin infections, Parti... OMIM:301082
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Elevated bronc... OMIM:178500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Recurrent upper ... OMIM:616100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased c... OMIM:618394
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... ORPHA:139507
Immunodeficiency 50
Recurrent respiratory infections, Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis, P... OMIM:269840
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... OMIM:619281
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total ... OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Increased circulatin... ORPHA:169160
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Increased circulating IgE level, Inflammation of the large inte... OMIM:615767
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomatitis ORPHA:343
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 35
Recurrent respiratory infections, Increased circulating IgE level OMIM:611521
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Recur... ORPHA:436159
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Increased circulating... OMIM:616005
Agammaglobulinemia 8B, Autosomal Recessive
Splenomegaly, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased... OMIM:619824
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Increased circulating IgA level, Pustule, ... OMIM:615934
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Jaundice, Hepatitis, Biliary cirrhosis, Gas... ORPHA:186
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... OMIM:619752
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea... OMIM:242860
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Recurrent skin infections, Decreased circulating Ig... OMIM:617744
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir... OMIM:618282
Boutonneuse Fever
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Increased circulating IgG leve... ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Panniculitis, Skin rash, Increased circulating IgA level OMIM:617099
Pgm3-Cdg
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema... ORPHA:443811
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... OMIM:611926
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Splenomegaly, Decreased specific anti-polysaccharide antibody l... OMIM:300853
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating total IgM, Decrea... OMIM:619510
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Abnormal B cell prol... OMIM:619652
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati... OMIM:615206
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, I... ORPHA:448237
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Hepatomegaly,... ORPHA:3261
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... ORPHA:277
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Arth... OMIM:260920
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Recurrent viral u... OMIM:615577
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Myeloma, Multiple
Paraproteinemia OMIM:254500
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Erythema nodosum OMIM:615214
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Recurrent upper... ORPHA:275
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Recurrent skin infections, Splenomegaly, Decrease... OMIM:620210
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Lymphadenitis, Decreased circulating anti... ORPHA:331206
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly,... OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Reduced natural kill... OMIM:615559
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia, Abnormal immunoglobulin ... ORPHA:276
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Hepatic st... OMIM:201475
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Increased circulating antibo... ORPHA:90280
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Increased... OMIM:243700
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Increased circulating IgE level, Bronchiecta... OMIM:618523
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Increased circu... ORPHA:217390
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Increased circulating antibody level ORPHA:100024
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Increased circulating IgA level OMIM:616395
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Increased circulating antibody level OMIM:615285
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin... OMIM:615816
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Increased circulating antibody leve... OMIM:614470
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia OMIM:616069
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level OMIM:614102
Wiskott-Aldrich Syndrome
Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Increased circulat... OMIM:301000
Reticular Dysgenesis
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function OMIM:267500
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Immunodeficiency 22
Pericarditis, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Pann... OMIM:615758
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... OMIM:147060
Lassa Fever
Increased circulating IgM level, Jaundice, Conjunctivitis ORPHA:99824
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level ORPHA:482
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Cutaneous anergy, Bil... OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Acute otitis media,... ORPHA:35078
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Abnormality of t... ORPHA:1304
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly OMIM:607624
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Splenomegaly, ... OMIM:614700
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Patent duc... OMIM:617303
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, ... ORPHA:2298
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent skin infections, Eczema, Splenomegaly, Bronchioliti... OMIM:619802
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Dyskeratosis Congenita, Autosomal Dominant 1
Hepatic necrosis, Interstitial pneumonitis, Bone marrow hypocellularity, Cirrhosis, Pulmonary fib... OMIM:127550
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity OMIM:614493
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Decr... OMIM:606367
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, He... OMIM:618278
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port... ORPHA:171
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated hepatic t... OMIM:256040
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... ORPHA:331235
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulating antibody level, Oti... ORPHA:3392
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo... ORPHA:90003
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased liver function, Hepati... ORPHA:26791
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG... ORPHA:319251
Immunodeficiency 67
Increased circulating IgE level, Liver abscess OMIM:607676
Cystic Echinococcosis
Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ... ORPHA:400
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous... ORPHA:572
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating total IgG, E... OMIM:300972
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... OMIM:170100
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Netherton Syndrome
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Increased... OMIM:256500
Subcorneal Pustular Dermatosis
Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Rhinitis, Increased circulating antibo... ORPHA:507
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... ORPHA:449400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pneumocystosis
Multiple pulmonary cysts, Acute infectious pneumonia, Interstitial pneumonitis, Increased circula... ORPHA:723
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Arthri... OMIM:617591
Caffey Disease
Increased circulating antibody level ORPHA:1310
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Recurrent upper respiratory tract i... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respirator... OMIM:600802
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Roifman Syndrome
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomegaly, Recurrent ... ORPHA:353298
Transcobalamin Ii Deficiency
Hepatomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Increased circulati... ORPHA:1163
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased circulating Ig... ORPHA:449432
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating antibody level, Decreased circulating total IgM, Pleur... ORPHA:90362
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Patent ductus arteriosus, Hepatosplenomegaly, Increased circula... ORPHA:505248
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Decreased c... ORPHA:634
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin... OMIM:606056
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract ... OMIM:607143
Tick-Borne Encephalitis
Elevated hepatic transaminase, Increased circulating IgG level, Increased circulating IgM level, ... ORPHA:297
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Membranoproliferative glomeru... ORPHA:329918
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Decreased... ORPHA:420741
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis, P... ORPHA:79139
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... ORPHA:542323
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE level, Atopic dermatitis, Pl... ORPHA:2902
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Recurrent respiratory infections, Portal hypertension, Hypersplenism, Splenomegaly,... OMIM:613385
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level, Hepatospleno... ORPHA:79330
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma OMIM:304790
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Diffuse alveolar hemorrhage, Erythema nodosum, Myocarditis, Orc... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Impaired T cell function, Splenomegaly, Patent ductu... OMIM:614576
Tempi Syndrome
Increased circulating IgG level, Abnormality of the pulmonary vasculature, Transudative pleural e... ORPHA:284227
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesen... ORPHA:284
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul... ORPHA:99829
Bloom Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash, Decreas... OMIM:210900
Alg12-Cdg
Elevated hepatic transaminase, Recurrent respiratory infections, Partial absence of specific anti... ORPHA:79324
Gaucher Disease Type 1
Hepatomegaly, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpho... ORPHA:77259
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent upper respiratory tract i... OMIM:613179
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Waldenström Macroglobulinemia
Cryoglobulinemia, Hepatomegaly, Splenomegaly, Pleural effusion, Monoclonal immunoglobulin M prote... ORPHA:33226
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Increased circul... ORPHA:2314
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema ORPHA:319218
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Decr... OMIM:620040
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Skin rash, Recurrent skin infections, ... OMIM:619381
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, I... OMIM:618213
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatic steatosis... OMIM:613327
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Myositis, Psoriasiform dermatiti... ORPHA:37042
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Smith-Kingsmore Syndrome
Cryptorchidism, Decreased circulating IgA level OMIM:616638
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Bloom Syndrome
Skin rash, Pneumonia, Bronchitis, Respiratory tract infection, Cheilitis, Uveitis, Decreased circ... ORPHA:125
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, Patent ductus arteriosus, Decreased circulating total IgM, Annular pan... OMIM:618162
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Iridocyclitis, Splenomegaly, Enlarged lacrimal gl... OMIM:181000
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph... ORPHA:449395
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decrea... ORPHA:83471
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Bronchiectasis, Hypoplasia of the thymus, Defective B... OMIM:208900
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis, De... OMIM:212750
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Decreased circulating IgA level ORPHA:457485
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Decreased circulatin... OMIM:212065
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level ORPHA:3409
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Exocrine pancreatic insuffi... OMIM:620005
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Impaired T cell function ORPHA:30
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Bronchitis, Tubulointerstitial nephritis, Decreased circulati... ORPHA:289390
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Igg4-Related Pachymeningitis
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morphology, Complement ... ORPHA:449427
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Abnormal lung morp... ORPHA:449563
Mevalonic Aciduria
Elevated hepatic transaminase, Skin rash, Fluctuating hepatomegaly, Fluctuating splenomegaly, Hep... OMIM:610377
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... ORPHA:66628
Al Amyloidosis
Hepatomegaly, Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution ... ORPHA:85443
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop... OMIM:615846
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Patent ductus arteriosus, Abnormal lung lobation, Decreased circulating total... ORPHA:369837
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... ORPHA:179494
Monosomy 18Q
Bilateral cryptorchidism, Patent ductus arteriosus, Secondary growth hormone deficiency, Decrease... ORPHA:1600
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Scleromyxedema
Abnormal lung morphology, Paraproteinemia, Abnormal pulmonary artery morphology ORPHA:167635
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibod... ORPHA:508533
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Respiratory tract infection, Myocar... ORPHA:544482
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Decreased response to growth hor... ORPHA:470
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Impaired T cell function, Decreased testicular size OMIM:201100
Dubowitz Syndrome
Eczema, Cryptorchidism, Otitis media, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:223370
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Gaucher Disease Type 3
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial mor... ORPHA:77261
Aapoaiv Amyloidosis
Abnormal lung morphology, Paraproteinemia ORPHA:439232
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... ORPHA:83617
Lead Poisoning
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... ORPHA:330015
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Minimal change glomerulonephritis, Bone... ORPHA:1830
Poems Syndrome
Pleural effusion, Increased circulating antibody level, Increased circulating prolactin concentra... ORPHA:2905
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal tubular epithe... ORPHA:91500
Gaucher Disease
Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Abnormal pulmonary intersti... ORPHA:355
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Unilateral primary pulmonary dysgen... OMIM:192430
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Orotic Aciduria
Impaired T cell function OMIM:258900
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Jaundi... ORPHA:99826
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Parathyroid hypopl... ORPHA:2237
Digeorge Syndrome
Acne, Impaired T cell function, Parathyroid agenesis, Seborrheic dermatitis, Atelectasis, Patent ... OMIM:188400
Viss Syndrome
Chronic gastritis, Eczema, Patent ductus arteriosus, Increased circulating IgE level, Pneumothora... OMIM:619472
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Acne, Impaired T cell function, Seborrheic dermatitis, Atelectasis, Patent du... ORPHA:567
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level... ORPHA:373
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function OMIM:176690

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Vsir

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vsir.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Kidney VISTA prevents IFN-γ/IL-9 axis-mediated tubulointerstitial fibrosis after acute glomerular injury. The Journal of clinical investigation (January 2022) Vsirtm1(KOMP)Vlcg PMC8718152
Kidney residency of VISTA-positive macrophages accelerates repair from ischemic injury. Kidney international (December 2019) Vsirtm1(KOMP)Vlcg 32143848

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vsirtm100688(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Vsirtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Vsirtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Vsirtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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