Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Epstein-Barr virus induced gene 3
Synonyms:
EBI-3,  IL-27

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ebi3 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 Ebi3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent infections, Agammaglobulinemia, E... OMIM:615214
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency 18
Recurrent otitis media, Decreased circulating total IgM, Decreased proportion of CD3-positive T c... OMIM:615615
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Immunodeficiency 20
BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i... OMIM:615707
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 15B
Chronic oral candidiasis, Recurrent infections, Chronic diarrhea, Decreased circulating antibody ... OMIM:615592
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Severe Epstein Barr virus infection, Recurrent pharyngitis... OMIM:308240
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections,... OMIM:209920
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo... OMIM:618108
Lymphoproliferative Syndrome 3
Recurrent infections, Decreased circulating antibody level, Partial absence of specific antibody ... OMIM:618261
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent mycobacterium avium complex in... OMIM:614172
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Abnormal natural killer cell count, Abnormal prop... OMIM:212050
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, G... OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Persistent EBV viremia, Chronic diarr... OMIM:619510
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency 52
Abnormal natural killer cell count, Persistent EBV viremia, Recurrent infections, Persistent CMV ... OMIM:617514
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Decreased circulating antibody level, Agammaglobulinemia, Reduc... OMIM:615206
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Sepsis, Hemophagocytosis, Persistent EBV viremia, Recurrent in... OMIM:615122
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Enterov... OMIM:300755
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Pneumonia, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:300400
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Arthrit... OMIM:601457
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Gliosis, Meningitis OMIM:613002
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Neutropenia, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Cutaneous absces... OMIM:619752
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, Chro... OMIM:615617
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Recurrent sinopul... OMIM:616740
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Neutropenia, Hemophagocytosis, Anemia, Increased cir... ORPHA:540
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia... ORPHA:443811
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Recurrent bronchit... OMIM:607594
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul... OMIM:241600
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Recurrent viral infections, Cutaneous anergy OMIM:114580
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly... OMIM:616050
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Aspergillosis
Invasive pulmonary aspergillosis, Increased circulating IgE level, Meningitis, Bronchiectasis, Si... ORPHA:1163
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Recurrent otitis media, Impaired lymphocyte transformation with phytohema... OMIM:600802
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc... ORPHA:448237
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Persistent EBV viremia, Pancytopenia, Acute lym... ORPHA:158057
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski... ORPHA:572
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Pfapa Syndrome
Arthritis, Splenomegaly, Recurrent pharyngitis, Infectious encephalitis ORPHA:42642
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM, Splenomegaly, Lymphocytosis OMIM:606445
C1Q Deficiency 3
Recurrent bacterial meningitis, Discoid lupus rash OMIM:620322
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Severe cytomegalovirus infection, Impaired lymphocyte transformation with phytohemagglutinin, Dia... OMIM:619313
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Immunodeficiency 68
Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadeniti... OMIM:612260
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Lymphopenia, Decreased circulating antib... ORPHA:331206
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Immunodeficiency 54
Recurrent viral infections, Reduced natural killer cell count, Splenomegaly, Recurrent respirator... OMIM:609981
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Congenital Enterovirus Infection
Myocarditis, Sepsis, Anemia, Abnormal macrophage morphology, Skin rash, Meningitis, Leukocytosis,... ORPHA:292
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Recurrent bacterial infections, Hepatosplenom... OMIM:607624
Immunodeficiency 66
Defective T cell proliferation, Sepsis, Pustule, Recurrent skin infections, Meningitis OMIM:618847
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections, Astrocytosis, Gliosis, Recurrent aspiration pneumonia ORPHA:204
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumoni... OMIM:242860
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Eosinophilia, Pustule, Infectious encephaliti... ORPHA:139402
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Myocarditis, Increased circulating myelo... ORPHA:36234
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, In... OMIM:619281
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Abnormal circulating interferon-gamma concentration, Anemia, Recurre... ORPHA:79124
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... ORPHA:169160
Legionnaires Disease
Myocarditis, Sepsis, Pancreatitis, Recurrent pharyngitis, Bone marrow hypocellularity, Pericardit... ORPHA:549
Immunodeficiency 76
B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lympho... OMIM:619164
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Recurrent Asper... ORPHA:391487
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Recurrent infections, Lymphocytosis, Decrease... OMIM:614470
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Avian Influenza
Sepsis, Myelitis, Meningitis, Lymphopenia, Leukopenia, Thrombocytopenia, Conjunctivitis, Pneumoni... ORPHA:454836
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased circulating anti... OMIM:300635
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, R... OMIM:615518
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgG, Gastroesophageal reflux, Diarrhea, Rec... ORPHA:221139
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Immunodeficiency 59 And Hypoglycemia
Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Arteritis, D... OMIM:233600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukopenia, Splenomegaly, Hepatosplenomegaly, ... OMIM:603553
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Scrub Typhus
Myocarditis, Skin rash, Splenomegaly, Anterior uveitis, Meningitis, Infectious encephalitis ORPHA:83317
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Hemophagocytic Syndrome Associated With An Infection
Severe cytomegalovirus infection, Anemia, Hemophagocytosis, Abnormal natural killer cell count, P... ORPHA:158048
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Abnormally low T cell receptor excision circle level,... OMIM:242700
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Immunodeficiency 9
BCGitis, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Recurrent infections,... OMIM:612782
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating interleukin 6... ORPHA:158061
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
Q Fever
Myocarditis, Anemia, Increased circulating antibody level, Meningitis, Hepatitis, Granuloma, Peri... ORPHA:781
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Absent platelet dense granules, Recurrent ... OMIM:608233
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, B lymphocytopenia, Inflammation of the large intestine, Reduced natural... OMIM:620133
Typhoid
Skin rash, Splenomegaly, Infectious encephalitis ORPHA:99745
Immunodeficiency 55
Recurrent infections, Diarrhea, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Ab... OMIM:617827
Listeriosis
Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Splenic... ORPHA:533
Immunodeficiency 44
Abnormal circulating IgG level, Severe viral infection, Post-vaccination measles, Lymphopenia, De... OMIM:616636
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Recurrent lower ... OMIM:619632
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Recurrent apht... OMIM:614868
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreas... OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 1
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Meningitis, Infectious ence... OMIM:267700
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Severe infec... ORPHA:464370
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin... OMIM:614379
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Persistent CMV viremia, Chr... OMIM:616005
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Immunodeficiency 69
BCGitis, Anemia, Hemophagocytosis, Pancytopenia, BCGosis, Skin rash, Leukocytosis, Hepatosplenome... OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys... OMIM:613101
American Trypanosomiasis
Myocarditis, Skin rash, Splenomegaly, Infectious encephalitis ORPHA:3386
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Lymphopenia, Cryptococcal meningitis, T lymphocytopenia OMIM:618309
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Chronic diarrhea, Skin rash, Recurrent bacterial skin infections, Chronic oral can... ORPHA:911
Brucellosis
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... ORPHA:1304
Microsporidiosis
Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis, Pneumonia, Osteomyeli... ORPHA:2552
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:601859
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Rift Valley Fever
Anemia, Increased circulating IgG level, Skin rash, Severe viral infection, Increased circulating... ORPHA:319251
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Diarrhea, Croh... OMIM:616100
Immunodeficiency 92
Recurrent oral herpes, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Persis... OMIM:619652
Nocardiosis
Scleritis, Sepsis, Liver abscess, Thyroiditis, Meningitis, Lymphadenitis, Severe infection, Peric... ORPHA:31204
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Recurrent aphthous... OMIM:301078
Whipple Disease
Myocarditis, Anemia, Myositis, Arthritis, Pericarditis, Splenomegaly, Infectious encephalitis, Uv... ORPHA:3452
Aicardi-Goutieres Syndrome 6
Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentration,... OMIM:615010
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Recurrent infections, Hypersegmentation of neutrophil nuclei, Me... OMIM:617780
Meningococcal Meningitis
Skin rash, Sepsis, Infectious encephalitis ORPHA:33475
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Cerebral Visual Impairment
Infectious encephalitis, Meningitis, Unusual CNS infection ORPHA:447788
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Arthritis, Skin rash, Meningitis, Sinusitis, Recurrent pneu... ORPHA:47
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:603909
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Persistent EBV viremia, Recurrent infectio... OMIM:613011
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti... OMIM:613179
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level, Neutrophilia, Meningitis, ... ORPHA:79139
Zygomycosis
Myocarditis, Unusual skin infection, Fasciitis, Pancreatitis, Gastritis, Neutropenia, Acute infec... ORPHA:73263
Reynolds Syndrome
Arthritis, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca ORPHA:779
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Recurrent respiratory infections, Infecti... ORPHA:354
Cinca Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Meningitis, Uveitis OMIM:607115
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Scedosporiosis
Unusual skin infection, Sepsis, Invasive fungal infection, Sinusitis, Pericarditis, Severe infect... ORPHA:449280
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Sweet Syndrome
Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... ORPHA:3243
Inherited Creutzfeldt-Jakob Disease
Astrocytosis ORPHA:282166
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Crohn's disease, Acute pancreatiti... OMIM:618935
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal proportion ... ORPHA:217260
Whim Syndrome
Sepsis, Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymphopenia, Lymph... ORPHA:51636
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Anemia, Abnormal hemoglobin, Infectious encephalitis ORPHA:847
Poliomyelitis
Meningitis, Myelitis, Infectious encephalitis ORPHA:2912
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Fusariosis
Lung abscess, Panniculitis, Neutropenia, Maculopapular exanthema, Myositis, Arthritis, Lymphopeni... ORPHA:228119
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Rec... ORPHA:169090
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Behçet Disease
Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Meningitis, Inc... ORPHA:117
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Incontinentia Pigmenti
Skin rash, Keratitis, Eosinophilia, Infectious encephalitis, Uveitis ORPHA:464
Acute Disseminated Encephalomyelitis
Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Optic neuritis, Sever... ORPHA:83597
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Recurrent gastroenter... ORPHA:37042
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Pneumonia, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating Ig... OMIM:602450
Cysticercosis
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... ORPHA:1560
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic diarrhea, Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreas... OMIM:102700
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Crypt... ORPHA:90362
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Increased red blood cell count, Sinusitis, Granuloma, Pustule, Pneumonia,... ORPHA:68
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Chronic Granulomatous Disease
Sepsis, Liver abscess, Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Spl... ORPHA:379
Immunoglobulin A Vasculitis
Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis ORPHA:761
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Abnormal natural kil... OMIM:615966
Adult Acute Respiratory Distress Syndrome
Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating int... ORPHA:70578
Follicular Lymphoma
Meningitis, Splenomegaly ORPHA:545
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Astrocytosis, Recurrent lower respiratory tract infections ORPHA:258
Cinca Syndrome
Anemia, Inflammatory abnormality of the eye, Meningitis, Leukocytosis, Abnormal granulocyte morph... ORPHA:1451
Alexander Disease
Infectious encephalitis ORPHA:58
Sepsis In Premature Infants
Neonatal sepsis, Anemia, Increased circulating interleukin 6 concentration, Leukocytosis, Invasiv... ORPHA:90051
Chikungunya
Arthritis, Skin rash, Synovitis, Enthesitis, Infectious encephalitis, Erythema nodosum, Crusting ... ORPHA:324625
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Acute colitis, Diar... ORPHA:544482
Melioidosis
Lung abscess, Unusual skin infection, Sepsis, Prostatitis, Liver abscess, Acute infectious pneumo... ORPHA:31202
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent infections, Lymphocytosis, Skin rash, Decreased mean platelet volume, Inflammation of t... OMIM:617718
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:306400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Astrocytosis, Splenomegaly ORPHA:309854
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Rat-Bite Fever
Morbilliform rash, Myocarditis, Sepsis, Pancreatitis, Anemia, Arthritis, Skin rash, Parotitis, Me... ORPHA:31205
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Recurrent infections, Impair... OMIM:614576
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Recurrent infections, Minimal cha... ORPHA:1830
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:542323
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Myelitis, Increased circulating IgG level, Leukocyto... ORPHA:297
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:66628
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Hypocomplementemic Urticarial Vasculitis
Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleritis, Splenomegaly, Conjunctiv... ORPHA:36412
Cockayne Syndrome Type 3
Astrocytosis, Splenomegaly, Keratoconjunctivitis sicca ORPHA:90324
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:179494
Coccidioidomycosis
Morbilliform rash, Coccidioidal meningitis, Pneumonia, Pancreatitis, Panniculitis, Increased circ... ORPHA:228123
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocyto... OMIM:242840
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ... ORPHA:85410
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Arthritis, Symmetric polyarthritis, Abnormal circulating interleukin concentration, Synovitis ORPHA:85435
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Severe periodontitis, Anemia, Recurrent infections, Recurrent urinary tra... ORPHA:99843
Mixed Connective Tissue Disease
Myocarditis, Gastritis, Myositis, Arthritis, Skin rash, Pericarditis, Leukopenia, Splenomegaly, H... ORPHA:809
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis OMIM:203700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Infectious encephalitis, Recurrent upper respirator... ORPHA:293987
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma conce... OMIM:301220
Familial Mediterranean Fever
Crohn's disease, Arthritis, Leukocytosis, Erysipelas, Pericarditis, Neutrophilia, Orchitis, Perit... OMIM:249100
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Leukopenia, Lymphopeni... ORPHA:289390
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis OMIM:601104
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Increased circulating IgG1 level, Sclerosing cholangitis, Increased ci... ORPHA:449395
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Splenomegaly, Impaired T cell function OMIM:201100
Congenital Syphilis
Myocarditis, Pancreatitis, Anemia, Synovitis, Rhinitis, Keratitis, Hepatosplenomegaly, Thrombocyt... ORPHA:499009
Arachnoiditis
Meningitis ORPHA:137817
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Leukocytosis, Pericarditis, Erysipelas, Osteoarthritis, Perit... ORPHA:342
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:900
Cryptococcosis
Sepsis, Prostatitis, Lymphoid leukemia, Peritonitis, Pneumonia, Meningitis, Osteomyelitis ORPHA:1546
Kawasaki Disease
Myocarditis, Cheilitis, Recurrent pharyngitis, Arthritis, Skin rash, Meningitis, Leukocytosis, Pe... ORPHA:2331
Kikuchi-Fujimoto Disease
Myocarditis, Anemia, Malar rash, Lymphocytosis, Skin rash, Pustule, Leukopenia, Splenomegaly, Thr... ORPHA:50918
Trichinellosis
Conjunctivitis, Increased circulating IgE level, Meningitis, Skin rash ORPHA:863
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Pancytopenia, Arthritis, Bronchiectasis, Inflammation of th... OMIM:181000
Giant Cell Arteritis
Pericarditis, Meningitis, Recurrent pharyngitis, Arthritis ORPHA:397
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Acute Transverse Myelitis
Invasive parasitic infection, Severe viral infection, Meningitis, Abscess, Extrapulmonary tubercu... ORPHA:139417
Plague
Carbuncle, Sepsis, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, Sk... ORPHA:707
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Allergic conjunctivitis, Impaired T cell function, Allergic rhinitis OMIM:176690
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
Leptospirosis
Optic neuritis, Skin rash, Meningitis, Pericarditis, Thrombocytopenia, Hepatitis, Uveitis ORPHA:509
Digeorge Syndrome
Recurrent otitis media, Anemia, Recurrent infections, Seborrheic dermatitis, Hypoplasia of the th... OMIM:188400
Sacral Defect With Anterior Meningocele
Rectal abscess, Meningitis OMIM:600145
22Q11.2 Deletion Syndrome
Chronic otitis media, Seborrheic dermatitis, Arthritis, Hypoplasia of the thymus, Impaired T cell... ORPHA:567
Hydranencephaly
Meningitis ORPHA:2177
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237

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 Ebi3

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 Ebi3.

No publications found that use IMPC mice or data for Ebi3.

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MGI Allele Allele Type Produced
Ebi3tm383302(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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