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Gene: Il27ra MGI:1355318

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interleukin 27 receptor, alpha
Synonyms:
Tccr,  IL-27R,  WSX-1

Order Alleles

IMPC Data Collections

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

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.

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 Il27ra 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 Il27ra by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... OMIM:620632
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... OMIM:231100
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... OMIM:137100
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased cir... OMIM:614470
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Autoimmune thrombocytopenia, Decreased lymphocyte proliferation in re... ORPHA:572
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:607594
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Increased c... ORPHA:139507
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... OMIM:609529
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections,... ORPHA:169079
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I Ig... OMIM:618048
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... ORPHA:98813
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... ORPHA:319552
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat... OMIM:618944
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Hepatomegaly, Meningitis, R... OMIM:308230
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Hepatosplenomegaly, Increased circulating antibody level, Elevated circul... OMIM:615559
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:331206
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Sepsi... ORPHA:276
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... ORPHA:2619
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre... ORPHA:277
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... ORPHA:83471
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Recurrent lower respi... ORPHA:183675
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Increased circul... OMIM:243700
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Congenital Atransferrinemia
Arthritis ORPHA:1195
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula... ORPHA:100093
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:601859
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmunity,... OMIM:618495
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Selective Igm Deficiency
Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent bronchitis, Meningitis, Autoimmune ... ORPHA:331235
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity... ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... OMIM:608184
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... ORPHA:158061
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infectio... OMIM:613179
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ... OMIM:301082
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythe... OMIM:613779
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections OMIM:300299
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Intraalveolar phospholipid accumulation, Hepatitis, Increased circula... OMIM:620565
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... ORPHA:411593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Increased circulating ferritin concentration, Autoimmunity, Sple... OMIM:613011
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel... OMIM:606367
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Increased cir... OMIM:620514
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ... OMIM:615468
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Increased circulating Interferon-alpha concentration, Splenomegaly OMIM:615010
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... OMIM:307200
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:603909
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... ORPHA:79124
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth... ORPHA:85410
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent respiratory infections, Hepatocellular necrosis, Hepat... OMIM:618278
Postinfectious Vasculitis
Recurrent mycobacterial infections, Severe varicella zoster infection, Invasive fungal infection,... ORPHA:48435
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
C3 Glomerulopathy
Paraproteinemia, Elevated circulating creatinine concentration, Autoimmunity, Recurrent infection... ORPHA:329918
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, C... OMIM:620321
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu... OMIM:152700
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Pgm3-Cdg
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent r... ORPHA:443811
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Hepatic failure, Elevated circulating hepatic tra... ORPHA:158057
Leigh Syndrome, Nuclear
Hepatocellular necrosis OMIM:256000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti... OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Autoimmunity, Hyperhomocystinemia, Recurrent infections, Decreased circulati... OMIM:617780
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent bacterial infections, Recurrent gram-negative bacter... OMIM:116920
Vertical Talus, Congenital
Arthritis OMIM:192950
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia OMIM:619437
Immunodeficiency 87 And Autoimmunity
Anticardiolipin IgG antibody positivity, Hepatic failure, Recurrent viral infections, Sepsis, Cho... OMIM:619573
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic anti... ORPHA:449400
Primary Biliary Cholangitis
Increased circulating IgA level, Cirrhosis, Hepatomegaly, Jaundice, Abnormal intrahepatic bile du... ORPHA:186
Omenn Syndrome
Recurrent viral infections, Splenomegaly, Hepatomegaly, Recurrent fungal infections, Recurrent ba... OMIM:603554
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ... ORPHA:85414
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Exocrine pancreatic insufficiency, Hepatosplenomega... OMIM:615952
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, Splenomegal... ORPHA:169090
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis factor secr... ORPHA:70578
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating hepatic transaminase concentration, Decreased specific anti-polysaccharide a... OMIM:614576
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Decreased ... ORPHA:221139
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Increased circulati... ORPHA:470
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... OMIM:106300
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail... OMIM:256810
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Splenomeg... OMIM:615895
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:48377
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Peritonitis, Recurrent meningococcal disease OMIM:615561
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Elevated circulating h... ORPHA:167
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule... ORPHA:69126
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Hypersplenism, Increased circulati... ORPHA:3261
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Hepatomegaly, Decreased circulating antibody level, Splenomegaly OMIM:248500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Meningitis, Abnormal blood ion concentration, Autoimmune thrombo... ORPHA:37042
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Autosomal Dominant Severe Congenital Neutropenia
Antineutrophil antibody positivity, Recurrent viral infections, Recurrent infection of the gastro... ORPHA:486
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Cirrhosis, Hepatic necrosis OMIM:127550
Wiskott-Aldrich Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Abnormal delayed hypersensitivity skin... OMIM:301000
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:542323
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:69665
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Recurrent bacterial infections OMIM:612840
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,... ORPHA:90363
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:618131
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Onychotrichodysplasia And Neutropenia
Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Splenomegaly, Hepatomegaly, Recurrent bacterial infections, Meningitis ORPHA:36412
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Hyponatremia, Recurrent bacterial infections, Hyperka... OMIM:617053
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Hyperurice... OMIM:232220
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections, Splenomegaly, Decreased serum zinc, Hepat... OMIM:201100
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidi... ORPHA:391487
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Impaired ADP-induced platelet ag... OMIM:608233
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Shwachman-Diamond Syndrome
Bone marrow hypocellularity, Hypoamylasemia, Recurrent viral infections, Sepsis, Elevated circula... ORPHA:811
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormality... ORPHA:85436
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt... ORPHA:100026
Sweet Syndrome
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, E... ORPHA:3243
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hypocalce... ORPHA:64744
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Autoimmunity, Hyperlipidemia, Abnormal lym... ORPHA:1830
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Brain abscess, Severe viral infection, Hypocalcemia... ORPHA:544482
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Autoimmunity, Abnormality of tumor necrosi... ORPHA:37202
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:793
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepatic glycogen content, Hepatomegal... ORPHA:79259
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, Hepatitis, Autoimmunit... ORPHA:227990
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... ORPHA:206572
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, Hepatitis, Autoimmunit... ORPHA:227982
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Chediak-Higashi Syndrome
Splenomegaly, Recurrent systemic pyogenic infections, Hepatomegaly, Jaundice, Recurrent infection... OMIM:214500
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... OMIM:186580
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Hepatos... OMIM:612541
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Autoimmunity,... ORPHA:1855
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Recurrent bacterial infections, J... OMIM:603903
Wolcott-Rallison Syndrome
Lymphocytosis, Recurrent infections, Iron deficiency anemia, Neutropenia ORPHA:1667
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... OMIM:607944
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... ORPHA:79128
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... ORPHA:244
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ... ORPHA:449432
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Recurrent pneumonia, Lymphocytosis, Thrombocytopenia, Recurrent i... OMIM:617718
Chromomycosis
Recurrent bacterial infections ORPHA:182
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Igg4-Related Retroperitoneal Fibrosis
Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif... ORPHA:49041
Cystic Fibrosis
Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Recurr... ORPHA:586
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Velocardiofacial Syndrome
Recurrent infections, Hypocalcemia, Impaired T cell function OMIM:192430
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level OMIM:181000
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia ORPHA:2237
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Digeorge Syndrome
Recurrent pneumonia, Cholelithiasis, Impaired T cell function, Recurrent otitis media, Hypocalcem... OMIM:188400
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Liver Disease, Severe Congenital
Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Leukopenia, Splenomegaly, Lym... OMIM:619991
Ramon Syndrome
Juvenile rheumatoid arthritis OMIM:266270
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

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 Il27ra

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 Il27ra.

No publications found that use IMPC mice or data for Il27ra.

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