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Gene: Usp25 MGI:1353655

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Gene Summary

Name:
ubiquitin specific peptidase 25
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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lacZ Expression

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

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Human diseases caused by Usp25 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 Usp25 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Skin r... OMIM:617585
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... OMIM:613495
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity, Recurrent sinopulm... OMIM:609529
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Immunodeficiency 50
Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ... OMIM:300988
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent... OMIM:607594
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Respi... ORPHA:444463
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:619220
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti... OMIM:618459
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... OMIM:617638
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Decreased circulating IgA level OMIM:137100
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Immunodeficiency 32B
Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ... OMIM:226990
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... OMIM:616576
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... OMIM:614470
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... OMIM:617006
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Decreased circulating IgG level,... OMIM:618944
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Splenomega... ORPHA:397596
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... OMIM:620321
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Isolated Agammaglobulinemia
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Autoimmunity, Otitis media... ORPHA:229717
Immunodeficiency 27A
Pneumonia, Rheumatoid factor positive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased ... OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... OMIM:601457
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Neonatal Alloimmune Neutropenia
Pneumonia, Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... OMIM:618986
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... ORPHA:436159
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis med... OMIM:240500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... OMIM:193670
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia ORPHA:70592
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Partial absence ... OMIM:620430
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... ORPHA:217390
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Autoimmu... OMIM:615952
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Autoi... OMIM:601859
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Malar rash, Leukopenia, Antinuclear an... OMIM:152700
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, Autoimmune hemolytic... OMIM:618495
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Immunodeficiency 46
Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, Conjuncti... OMIM:616740
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Periodontitis, Aplastic anemia, Lymphopenia, Recur... ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosp... ORPHA:169160
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Autoimm... OMIM:608184
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased c... OMIM:619752
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ... OMIM:243700
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Anti-granulocyte-macrophage co... OMIM:610910
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Monocyto... OMIM:616871
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... ORPHA:169079
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... ORPHA:238459
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... OMIM:615387
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ... ORPHA:178320
Microlissencephaly
Pneumonia ORPHA:1083
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Anemia, Incre... OMIM:620514
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... OMIM:618523
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased... ORPHA:3392
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ... OMIM:601495
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Panh... ORPHA:572
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... ORPHA:911
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Felty Syndrome
Recurrent pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmuni... ORPHA:47612
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Increased circulating IgE level, Lymphopenia, Hepat... ORPHA:169154
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... ORPHA:781
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh... ORPHA:85435
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon... ORPHA:723
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, De... OMIM:613011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Severe B lymphocytopenia, C... OMIM:102700
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne... ORPHA:33110
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Reduced natural killer cell count, Abnormally low T c... ORPHA:276
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Antineutrophil antibody positivity, Hemophagocytosis, Agranulocy... OMIM:301078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... OMIM:242860
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Antiphospholipid antibody positiv... ORPHA:90060
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Emphysema, Lymphopenia, Recurrent bronchitis, Otitis media, Splenomega... ORPHA:1572
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash,... ORPHA:47
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Eosinophilia... ORPHA:39041
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Decreased cir... ORPHA:331206
Melioidosis
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Panhypogamm... OMIM:600802
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Acute infectious pneumonia, ... ORPHA:36238
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Immunodeficiency 56
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron... OMIM:615207
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Pleural effus... ORPHA:2902
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Chronic m... ORPHA:79124
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Fusariosis
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple... ORPHA:228119
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf... OMIM:307200
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Autoimmunit... ORPHA:449400
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Agammaglobulinemia, X-Linked
Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, Recurrent lower respi... OMIM:300755
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar... ORPHA:449280
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hemophagocytosis, Pulmonary hemo... OMIM:619644
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Skin rash, Auto... ORPHA:100026
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Rheumatoid factor po... OMIM:615816
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Pure red cell aplasia, Lymphopenia, Otit... OMIM:613179
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int... OMIM:612387
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Increased circulating interferon-gamma concentration, Abnormality of tumor necr... ORPHA:540
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Autoimmune antibody positivity, Acute infectious pneumonia ORPHA:264675
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Malar rash, Autoim... ORPHA:79480
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... OMIM:613807
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... OMIM:613808
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Autoimmunity, Decreased proportion of naive T cells, Aplasia of... ORPHA:83471
Immunodeficiency 12
Recurrent aphthous stomatitis, Complete or near-complete absence of specific antibody response to... OMIM:615468
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis... ORPHA:85414
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pa... ORPHA:1855
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... ORPHA:1304
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt... OMIM:603554
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis OMIM:618398
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Respiratory tract infection, Infectiou... ORPHA:36234
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo... OMIM:618131
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Recurren... ORPHA:3226
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otitis media ORPHA:169090
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit... OMIM:243150
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly OMIM:620296
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Aregenerative Anemia
Abnormal circulating interleukin concentration, Pancytopenia, Decreased proportion of CD4-positiv... ORPHA:101096
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Good Syndrome
Recurrent skin infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Re... ORPHA:169105
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Perinuclear antineutrophil antibody positivity, Panniculitis, B... ORPHA:60
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Autoimmunity, Sk... ORPHA:79128
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious encephaliti... ORPHA:454836
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circulating IgA ... OMIM:617099
Psoriasis 14, Pustular
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis OMIM:614204
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abnormal circulating chemokine concentration, Increased circulating interleukin 6 conc... ORPHA:544482
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Severe B lymphocytopenia, Recu... ORPHA:293978
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin... ORPHA:420741
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Adult-Onset Still Disease
Neutrophilia, Hepatitis, Interstitial pneumonitis, Skin rash, Leukocytosis, Splenomegaly, Anemia,... ORPHA:829
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... ORPHA:85436
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract inf... ORPHA:244
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... ORPHA:293173
Shwachman-Diamond Syndrome
Pneumonia, Normocytic anemia, Aplastic anemia, Eczematoid dermatitis, Increased mean corpuscular ... ORPHA:811
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Bronchitis, Decreased circulating IgA level, Decrease... ORPHA:125
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Rheumatoid factor positi... ORPHA:48435
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Recurrent skin infections... OMIM:619381
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis OMIM:606763
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Systemic lupus erythematosus, Leukopenia, Autoimmunity, Skin rash, Antinucl... ORPHA:2298
Cryptococcosis
Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleura... ORPHA:1546
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... OMIM:158310
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Abnormal lung morphology, Liver abscess ORPHA:54251
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ... ORPHA:449395
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, Peritoni... ORPHA:810
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Neutrophilia, Pulmonary fibrosis, Stoma... OMIM:612852
Coccidioidomycosis
Pneumonia, Folliculitis, Granuloma, Increased circulating IgG level, Exudative pleural effusion, ... ORPHA:228123
Listeriosis
Pneumonia, Abnormal cellular immune system morphology, Arteritis, Brain abscess, Liver abscess, O... ORPHA:533
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... ORPHA:31204
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Cryptogenic Organizing Pneumonia
Pneumothorax, Leukocytosis, Neutrophilia ORPHA:1302
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Serositis, Increased ci... OMIM:260920
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Pancre... ORPHA:499009
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural effusion, Peritonitis, En... ORPHA:73263
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,... OMIM:615846
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Familial Mediterranean Fever
Erysipelas, Pleural effusion, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis,... OMIM:249100
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased circulating total IgG, Psoriasiform dermatitis, Decr... ORPHA:221139
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Interstitial pneumon... OMIM:127550
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Increased circulating interleukin 6 concentration, Pleural effusion, Leukocytosis, Pul... ORPHA:340
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Skin rash, Normochromic anemia ORPHA:247691
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Thrombocytopenia OMIM:603467
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Anti-smooth muscle antibody pos... ORPHA:1018
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir... ORPHA:354
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatosplenomegaly, Th... ORPHA:3260
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Inc... OMIM:181000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia OMIM:230900
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... ORPHA:68
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Bickerstaff Brainstem Encephalitis
Pneumonia, Autoimmune antibody positivity, Respiratory tract infection ORPHA:79138
Chops Syndrome
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media, Thrombocytopenia OMIM:122470
Alpha-Mannosidosis, Infantile Form
Pneumonia, Hepatosplenomegaly, Pancytopenia, Otitis media ORPHA:309282
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Aspiration pneumonia ORPHA:79255
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Splenomegaly OMIM:253200
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Respiratory tract infection, Otitis media, Splenomegaly, Recurrent sinopulm... ORPHA:581
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Diffuse alveolar hemorrhage, Parotitis, Morbilliform rash, Pancytopenia, Leukopenia... ORPHA:99827
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia ORPHA:94093
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca... ORPHA:95455
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Aspiration pneumonia OMIM:301072
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Degcags Syndrome
Pneumonia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Iron deficiency anemia, Abnormal spleen ... OMIM:619488
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia OMIM:602535
Yellow Fever
Leukocytosis, Skin rash, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 conc... ORPHA:99829
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Recurrent skin infections ORPHA:79404
Cholera
Aspiration pneumonia ORPHA:173
Chronic Visceral Acid Sphingomyelinase Deficiency
Systemic lupus erythematosus, Hypersplenism, Interstitial pneumonitis, Splenomegaly, Thrombocytop... ORPHA:77293
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Recurrent respiratory infections ORPHA:397715
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Enteroc... ORPHA:707
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Liver Disease, Severe Congenital
Pneumonia, Eczematoid dermatitis, Recurrent otitis media, Chronic gastritis, Leukopenia, Splenome... OMIM:619991
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis ORPHA:280633
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Niemann-Pick Disease Type C
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Abnormal lung morphology, Bone-marrow foa... ORPHA:646
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Recurrent otitis media, Conjunctivitis, Recurrent respiratory inf... OMIM:616268
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Hypoplasia of the thymus, Recurrent respiratory infections OMIM:264090
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353281
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353277
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia, Autoimmune thrombocytopenia, Hemolytic an... OMIM:147920
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Septic arthritis, Recurrent aspiration ... ORPHA:642
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia OMIM:612289
Doors Syndrome
Thrombocytosis, Aspiration pneumonia ORPHA:79500
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Aspiration pneumonia ORPHA:438213
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Impaired neutrophil chemotaxis, Pericarditis ORPHA:79318

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 Usp25

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 Usp25.

No publications found that use IMPC mice or data for Usp25.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Usp25tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Usp25tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Usp25tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Usp25tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Usp25tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice
Usp25tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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