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Gene: Cxcl10 MGI:1352450

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Gene Summary

Name:
chemokine (C-X-C motif) ligand 10
Synonyms:
C7,  IP10,  Ifi10,  IP-10,  gIP-10,  CRG-2,  Scyb10,  mob-1,  INP10

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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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Viewing: all phenotypes

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 Cxcl10 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 Cxcl10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Severe varicella zoster infection, Defective T ce... OMIM:615897
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... OMIM:614493
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Antinuclear antibody positivity... OMIM:613495
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Immunodeficiency 17
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respiratory infec... OMIM:615607
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Membranoproliferative glomerulo... OMIM:613652
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... ORPHA:90283
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Leukocytosis, Axonal loss, Motor conduction block, Sym... ORPHA:206594
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Peripheral demyelination, Peripheral axonal neuropathy ORPHA:231445
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating IgG... OMIM:233650
Masp2 Deficiency
Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... OMIM:614895
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:180800
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections, Autoimmuni... OMIM:609529
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... ORPHA:280234
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Recurrent urinary tract infections, Increased circulating a... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Mildly elevated creatine kinase, Decreased number of l... OMIM:615376
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Decreased nerve con... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... OMIM:618944
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis OMIM:613783
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, Recurrent otitis ... ORPHA:277
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency, Common Variable, 3
Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease... OMIM:613493
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... ORPHA:331235
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Immunodeficiency 20
BCGitis, Severe varicella zoster infection, Recurrent oral herpes, Recurrent viral upper respirat... OMIM:615707
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Lack of T cell function, Neutropen... ORPHA:572
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Decreased specific antibody res... OMIM:616452
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Recu... OMIM:618982
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmune thrombo... ORPHA:444463
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... OMIM:609260
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... ORPHA:101097
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:610100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Systemic lupus erythematosus, Membranoproliferative glomeruloneph... OMIM:613779
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... OMIM:209920
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:607706
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Krabbe Disease
Optic atrophy, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... OMIM:245200
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Segmental peripheral demy... OMIM:601455
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Abetalipoproteinemia
Acanthocytosis, Peripheral demyelination, CNS demyelination OMIM:200100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... OMIM:301000
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Ele... ORPHA:101082
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral demyelinati... OMIM:604168
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Rheumatoi... ORPHA:90280
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... ORPHA:411593
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Facial palsy OMIM:601382
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Enteroviral dermat... OMIM:300755
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Autoimmunity, Decreased specific pneumococcal antibody level, Recurrent herp... ORPHA:183675
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... OMIM:307200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, B lymphocytopenia, Severe varicella zoster infection, Neutropenia, Pancytopenia, Leukopen... OMIM:618986
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Rheumatoid arthritis, Antinuclear antibody positivity, Increased ci... OMIM:178610
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity, Colitis, Minimal change glomerulone... OMIM:617006
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Decreased sensory nerve conduction velocity, Peripheral demye... OMIM:609033
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... ORPHA:83471
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss OMIM:221770
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Mildly elevated crea... OMIM:604484
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Tangier Disease
Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy, Splenomegaly OMIM:205400
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections, Panniculitis OMIM:615758
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Membranous nephropathy, Recurrent otitis media, Recurrent infections, Arthritis, Re... OMIM:615559
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... OMIM:619281
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Progressive Multifocal Leukoencephalopathy
Meningitis, Decreased proportion of CD8-positive T cells, CNS demyelination, Abnormal proportion ... ORPHA:217260
Immunodeficiency 31C
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Autoim... OMIM:614162
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Recurrent infections, Autoimmunity ORPHA:703
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis OMIM:617900
Lymphoproliferative Syndrome 1
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Recurrent infe... OMIM:613011
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination OMIM:220111
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Decreased circulating IgG level, Fulminant hepatitis, Decreased circulat... OMIM:308240
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Neu... OMIM:613179
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Men... ORPHA:229717
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Decreased nerve conduction velocity, Myelin outfoldings, Peripheral hyp... OMIM:609136
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
Immunodeficiency 36
Recurrent bacterial infections, Autoimmunity, Bronchiectasis, Decreased circulating antibody leve... OMIM:616005
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... OMIM:618108
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Trigeminal Neuralgia
Peripheral demyelination, Cranial nerve compression, CNS demyelination ORPHA:221091
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Eczema, Decreased circulating antibody level, Recurrent infections, Septic arthriti... OMIM:617780
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Uveitis, Rheumatoid arthritis, Abnormal serum ... ORPHA:85410
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Systemic lupus erythematosus, Arthritis, Malar rash, An... OMIM:152700
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, Decreased number... ORPHA:90103
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Crohn's disease... OMIM:618394
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Q Fever
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Unusual infection, H... ORPHA:781
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Recurrent infections, Autoimmune thrombocytopenia, Increased circulating antibody l... OMIM:614470
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Chronic oral candidiasis, Abscess, Recurr... OMIM:150550
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... OMIM:218000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Pemphigus Erythematosus
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... ORPHA:79480
Charcot-Marie-Tooth Disease Type 4A
Motor conduction block, Decreased number of large peripheral myelinated nerve fibers, Decreased n... ORPHA:99948
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... OMIM:615952
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... OMIM:608720
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Systemic lupus erythematosus, Hepatitis, Incre... ORPHA:158061
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Autoimmunity, Pneumonia, Chronic otitis media, Recurrent ... ORPHA:169090
Felty Syndrome
Sinusitis, Sepsis, Autoimmunity, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhi... ORPHA:47612
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination, Splenomegaly OMIM:272200
Hemophagocytic Syndrome Associated With An Infection
Chronic active Epstein-Barr virus infection, Hyperproteinemia, Abnormal cytokine signaling, Neutr... ORPHA:158048
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal serum interleukin ... ORPHA:70578
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Autoimmunity, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chron... ORPHA:47
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Facial palsy, Se... OMIM:256850
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Pneumonia, Acut... ORPHA:178320
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Recurrent herpes, Bronchie... ORPHA:391487
Immunodeficiency 92
Cholangitis, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Esophag... OMIM:619652
New-Onset Refractory Status Epilepticus
Autoimmunity, Infectious encephalitis, Abnormal serum interleukin level ORPHA:363558
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Chronic a... OMIM:162400
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Sepsis, Eczema, Autoimmunity, Tubulointerstitial nep... ORPHA:37042
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... ORPHA:540
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... OMIM:618213
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... OMIM:615577
Bacterial Toxic-Shock Syndrome
Sinusitis, Sepsis, Myocarditis, Severe varicella zoster infection, Infectious encephalitis, Pneum... ORPHA:36234
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Increased circu... OMIM:619632
American Trypanosomiasis
Myocarditis, Autoimmune antibody positivity, Infectious encephalitis, Skin rash ORPHA:3386
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, Decreased motor nerve conduction velocity OMIM:610532
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... OMIM:208920
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Invasive pulmonary aspe... ORPHA:1163
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Decreased number of large periph... OMIM:270550
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerves, Abnormality of peripheral nerve conduction, Abnormal peripheral... ORPHA:168563
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Recurrent candida infections, Impaired T cell function OMIM:201100
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Cutaneou... OMIM:242840
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Skin rash, Autoimmune hemolytic anemia ORPHA:90036
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Molybdenum Cofactor Deficiency, Complementation Group B
Peripheral demyelination, Axonal loss OMIM:252160
Lyme Disease
Meningitis, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Neutropenia, Severe demyelination of the white matter, Peripheral demyelination, M... ORPHA:79282
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... ORPHA:449400
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Impaired T cell function, Elevated circulating creatine kinase concentration, Recu... OMIM:614576
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash ORPHA:85414
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Sepsis, Decreased circulating antibody level, Acne inversa, Recurren... OMIM:233600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg... ORPHA:298
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Cholangitis, Autoimmunity, Anti-glutamic acid decarb... ORPHA:228426
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Zika Virus Disease
Infectious encephalitis, Arthritis, Meningitis, Increased circulating IgM level, Maculopapular ex... ORPHA:448237
Immunodeficiency 58
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... OMIM:618131
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Meningitis, Skin rash ORPHA:83317
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... OMIM:201300
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Autoimmunity, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Ir... ORPHA:85436
Molybdenum Cofactor Deficiency, Complementation Group A
Peripheral demyelination, Axonal loss OMIM:252150
Ataxia-Telangiectasia
Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell differentiation... OMIM:208900
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
Gamma-Heavy Chain Disease
Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid arthritis, Skin rash, Recurrent respiratory... ORPHA:100026
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Legionnaires Disease
Myocarditis, Sepsis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Pancreatitis... ORPHA:549
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Incre... ORPHA:3243
Microsporidiosis
Brain abscess, Sepsis, Sinusitis, Myocarditis, Cholangitis, Hepatitis, Infectious encephalitis, L... ORPHA:2552
Typhoid
Infectious encephalitis, Skin rash ORPHA:99745
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Decreased proportion o... ORPHA:66628
East Syndrome
Peripheral hypomyelination, Increased circulating renin level, Peripheral axonal neuropathy ORPHA:199343
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Recurrent infec... ORPHA:1830
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Sensory ... OMIM:618733
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Decreased proportion o... ORPHA:179494
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Optic ... ORPHA:83597
Congenital Enterovirus Infection
Myocarditis, Sepsis, Infectious encephalitis, Hepatitis, Meningitis, Skin rash ORPHA:292
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neurop... ORPHA:254930
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Nocardiosis
Brain abscess, Sepsis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadeni... ORPHA:31204
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Abnormal myelination, Decreased distal sensory nerve action pote... ORPHA:466768
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Recurrent ear infections, Peripheral demyelination, Recurrent infections, Leukodystrophy, Delayed... OMIM:619475
Meningococcal Meningitis
Sepsis, Infectious encephalitis, Skin rash ORPHA:33475
Bloom Syndrome
Severe toxoplasmosis, Severe varicella zoster infection, Acute lymphoblastic leukemia, Abnormal p... ORPHA:125
Reynolds Syndrome
Arthritis, Infectious encephalitis, Skin rash, Keratoconjunctivitis sicca ORPHA:779
Avian Influenza
Sepsis, Infectious encephalitis, Pneumonia, Hepatitis, Meningitis, Myelitis, Conjunctivitis ORPHA:454836
Listeriosis
Brain abscess, Sepsis, Myocarditis, Unusual skin infection, Infectious encephalitis, Pericarditis... ORPHA:533
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of interleu... ORPHA:542323
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Optic nerve hypoplasia, Decreased n... ORPHA:101085
Hartnup Disease
Infectious encephalitis, Skin rash ORPHA:2116
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Decreased sensory nerve conduction velocity, Optic neuropathy, Optic atrophy ORPHA:320375
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Segmental peripheral demyelination/remyelination, Demyelinating peripheral neuropathy ORPHA:255210
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227990
Brucellosis
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hip osteoarthritis, ... ORPHA:1304
Whipple Disease
Myocarditis, Pericarditis, Infectious encephalitis, Myositis, Arthritis, Uveitis ORPHA:3452
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227982
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... ORPHA:64744
Cerebral Visual Impairment
Meningitis, Infectious encephalitis, Unusual CNS infection ORPHA:447788
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination, Increased circulating renin level OMIM:612780
Cockayne Syndrome A
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Decreased nerve conduc... OMIM:216400
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Defective pr... OMIM:612132
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Zygomycosis
Brain abscess, Sinusitis, Myocarditis, Unusual skin infection, Infectious encephalitis, Pericardi... ORPHA:73263
Cockayne Syndrome B
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Decreased nerve conduc... OMIM:133540
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity ORPHA:477817
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Rift Valley Fever
Infectious encephalitis, Hepatitis, Increased circulating IgG level, Severe viral infection, Uvei... ORPHA:319251
Behçet Disease
Keratoconjunctivitis sicca, Pericarditis, Infectious encephalitis, Endocarditis, Retrobulbar opti... ORPHA:117
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Optic atrophy, Facial paralysis, Decreased number of p... ORPHA:99949
Immunoglobulin A Vasculitis
Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis ORPHA:761
Poliomyelitis
Meningitis, Infectious encephalitis, Myelitis ORPHA:2912
Hemophagocytic Lymphohistiocytosis, Familial, 2
Meningitis, Infectious encephalitis, Skin rash OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Infectious encephalitis OMIM:267700
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Myocarditis, Increased circulating interleukin 6, Pneumonia, Acute colitis, Pancre... ORPHA:544482
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Recurrent infections due to aspiration OMIM:223900
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Japanese Encephalitis
Meningitis, Increased circulating antibody level, Increased circulating IgM level, Infectious enc... ORPHA:79139
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Infectious encephalitis ORPHA:847
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Chikungunya
Infectious encephalitis, Synovitis, Arthritis, Maculopapular exanthema, Skin rash, Crusting eryth... ORPHA:324625
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Incontinentia Pigmenti
Uveitis, Infectious encephalitis, Skin rash, Keratitis ORPHA:464
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumonia, Pustule ORPHA:68
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Splenomegaly, Increased circulating antibody level, Abnormality of T cell physi... OMIM:181000
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Alexander Disease
Infectious encephalitis ORPHA:58
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Choreoacanthocytosis
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Acanthocytosis,... ORPHA:2388
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Infectious encephalitis, Recurrent lower respirator... ORPHA:293987
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
22Q11.2 Deletion Syndrome
Optic atrophy, Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Digeorge Syndrome
Recurrent infections, Impaired T cell function OMIM:188400

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 Cxcl10

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 Cxcl10.

No publications found that use IMPC mice or data for Cxcl10.

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MGI Allele Allele Type Produced
Cxcl10em1(IMPC)Bay Exon Deletion Mice

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