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Gene: Otud7b MGI:2654703

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Gene Summary

Name:
OTU domain containing 7B
Synonyms:
4930463P07Rik,  Za20d1,  2900060B22Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Otud7btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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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 Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

11 Images

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Legacy Phenotype Associated Images
Otud7btm1b(EUCOMM)Wtsi
HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
HET, Male, WTSI

View all 133 images

Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal digit morphology, HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
head, WT, Female, WTSI

View all 10 images

Otud7btm1b(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
fused cornea and lens, HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Otud7b 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 Otud7b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Increased circulating IgE level, Recurrent otitis media, Hepatosplenomegaly... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD... OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Abnormal c... OMIM:618048
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu... OMIM:613501
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased circulating Ig... OMIM:300400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... OMIM:616911
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunoglobulin A Deficiency 1
Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina... OMIM:137100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Failure to thrive, Chronic m... ORPHA:98813
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sepsis, Impaired memory B cell generation, Failure to thrive, Ab... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections, B lymphocytopenia OMIM:616941
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, ... OMIM:603909
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent... OMIM:300310
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal B cell count,... OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos... ORPHA:331206
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni... ORPHA:277
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hy... OMIM:614470
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... OMIM:618944
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt... OMIM:619281
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:169160
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammaglobulinemia, Increased c... OMIM:300291
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:618495
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Recurrent respiratory infections, Lymphopenia, Leukopenia, Follicular hyperpla... OMIM:615934
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Lymphaden... ORPHA:100024
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm... ORPHA:169079
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Failure to thrive in infancy, Reduced delayed hypersensitivity, ... OMIM:617241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent candida ... OMIM:614069
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a... OMIM:620565
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Immunodeficiency 46
Sepsis, Failure to thrive, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidia... OMIM:616740
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circul... OMIM:617388
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Recurrent in... OMIM:608184
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosi... OMIM:267500
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr... ORPHA:217390
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Increased circulating IgA level, Neutropenia, Recurrent infections OMIM:616395
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci... OMIM:606367
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni... OMIM:616100
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulating antibody ... ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent ba... OMIM:619693
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect... OMIM:614102
Hyper-Igd Syndrome
Recurrent infections, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased ci... OMIM:260920
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Abnormal delayed hypersensitivity skin test, Lymphopenia, Decrea... OMIM:301000
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Failure to thrive, Chr... OMIM:102700
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo... OMIM:601495
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Failure to thrive,... OMIM:615758
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Decreased proportion of class-switched memory B c... OMIM:614878
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropenia, Autoimmun... OMIM:614700
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymp... OMIM:209950
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrom... OMIM:300755
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent respiratory ... OMIM:618282
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Fail... OMIM:600802
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia... ORPHA:572
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ... ORPHA:436159
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Recurrent viral infections, Recurrent respiratory ... OMIM:620532
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia, Increased ci... ORPHA:29073
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Failure to th... OMIM:243700
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Failure to thrive, Recurrent bronchiolitis OMIM:616069
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Failu... OMIM:209920
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Insulin Autoimmune Syndrome
Weight loss, Increased circulating antibody level ORPHA:411593
Immunodeficiency 32B
Failure to thrive, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulati... OMIM:226990
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Xq28 (MECP2) duplication
Decreased circulating IgA level, Failure to thrive, Recurrent respiratory infections DECIPHER:45
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Lymphadenopathy ORPHA:343
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Small for gestational age, Abnormal T cell morphology OMIM:215250
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Myeloma, Multiple
Paraproteinemia OMIM:254500
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Recurrent otitis media, Eosinophilia, Recurrent respiratory infe... OMIM:618523
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent... ORPHA:79124
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Abnormality of body weight, Leukopenia, ... ORPHA:2298
Postinfectious Vasculitis
Recurrent mycobacterial infections, Abnormality of humoral immunity, Recurrent candida infections... ORPHA:48435
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Chronic decreased circulating IgG2, Decreased prop... OMIM:615607
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level ORPHA:37748
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu... OMIM:150550
Netherton Syndrome
Decreased circulating IgG level, Sepsis, Failure to thrive, Increased circulating IgE level, Hype... OMIM:256500
Selective Igm Deficiency
Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,... ORPHA:331235
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Pancytopenia... OMIM:275350
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Splenomegaly, Increased circulating antibody level, Throm... OMIM:170100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, T lymphocy... OMIM:242860
Immunodeficiency 23
Recurrent staphylococcal infections, Failure to thrive, Chronic mucocutaneous candidiasis, Recurr... OMIM:615816
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Anemia, Decr... OMIM:620040
Primary Biliary Cholangitis
Splenomegaly, Recurrent fungal infections, Increased circulating IgA level, Onychomycosis, Increa... ORPHA:186
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Omenn Syndrome
Recurrent viral infections, Failure to thrive, Splenomegaly, Recurrent bacterial infections, Hypo... OMIM:603554
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... OMIM:208900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... ORPHA:90362
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Lymphadenopat... OMIM:617591
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... OMIM:256040
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... ORPHA:183675
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Leukocytosis, Increased circulating a... ORPHA:3392
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosi... OMIM:304790
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Lymphadenopathy, ... ORPHA:79078
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... ORPHA:231154
Inflammatory Pseudotumor Of The Liver
Weight loss, Increased hepatitis B virus antibody level ORPHA:90003
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Recurrent infections, Decreas... ORPHA:329918
Pneumocystosis
Abnormal neutrophil count, Weight loss, Chronic oral candidiasis, Increased circulating antibody ... ORPHA:723
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level ORPHA:90280
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T... OMIM:618213
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Alg12-Cdg
Recurrent pneumonia, Sepsis, Failure to thrive, Abnormal circulating IgM level, Complete or near-... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:607143
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Failure to thrive, Decreased circulating IgA l... OMIM:620376
Immunodeficiency 68
Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocy... OMIM:612260
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Weight loss, Leukocytosis ORPHA:2902
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Splen... OMIM:613385
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Recurrent urinary tract infections, Decre... ORPHA:125
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Caffey Disease
Increased circulating antibody level ORPHA:1310
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Mevalonic Aciduria
Recurrent infections, Failure to thrive, Fluctuating splenomegaly, Failure to thrive in infancy, ... OMIM:610377
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Failure to thrive OMIM:614328
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Large for gestational age, Thrombocytopenia OMIM:616638
Ebola Hemorrhagic Fever
Sepsis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... OMIM:619381
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased circu... ORPHA:420741
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Failure to thrive, Decreased circulating IgA level, Splenomegaly, Recurrent ... OMIM:613327
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Obesity, Small for gestational age, Increased circu... ORPHA:86816
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Netherton Syndrome
Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu... ORPHA:634
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease... OMIM:210900
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Recurrent bro... OMIM:617303
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto... ORPHA:79330
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, We... OMIM:212750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent infections, Sepsis, Increased circulating IgE level, Failure to thrive in infancy, Auto... ORPHA:37042
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Large for gestational age ORPHA:457485
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Decreased circula... ORPHA:90363
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity ORPHA:3409
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level, Recurrent respiratory infections, Eosinophilia, Recurrent infect... ORPHA:2314
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia, We... ORPHA:400
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Recurrent respiratory infections, Failure to thrive OMIM:615508
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Gaucher Disease Type 1
Splenic infarction, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, In... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Failure to thrive, Thrombocytosis OMIM:212065
Poems Syndrome
Polycythemia, Splenomegaly, Increased circulating antibody level, Weight loss, Lymphadenopathy, T... ORPHA:2905
Encephalitis Lethargica
Recurrent viral infections, Increased circulating antibody level ORPHA:83600
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Autoimmune Hepatitis
Increased circulating IgG level, Splenomegaly, Increased circulating antibody level ORPHA:2137
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Weight loss, L... ORPHA:781
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Hepatosplenomegaly, Leukope... ORPHA:505248
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology... ORPHA:284
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Monosomy 18Q
Slender build, Decreased circulating IgA level, Failure to thrive, Patent ductus arteriosus ORPHA:1600
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Decreased circulating IgA level, Recurrent infe... OMIM:223370
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recur... ORPHA:77261
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Increased circulating antibody level, Weight loss, Generalized lympha... OMIM:615846
Brucellosis
Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Weight loss,... ORPHA:1304
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Failure to thrive, Hemophagocytosis, Reduced circulating complem... ORPHA:470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Obesity, Patent ductus arteriosus ORPHA:369837
Al Amyloidosis
Anemia, Howell-Jolly bodies, Weight loss, Increased circulating antibody level ORPHA:85443
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc... ORPHA:449395
Primary Sjögren Syndrome
Normocytic anemia, Reduced circulating complement concentration, Lymphopenia, Decreased circulati... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... OMIM:181000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... OMIM:147060
Scleromyxedema
Paraproteinemia ORPHA:167635
Japanese Encephalitis
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Lymphadenopathy, Increased circulati... ORPHA:228123
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Granuloma ORPHA:562639
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,... ORPHA:355
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Lymphadenopathy, Increased circulating IgG4 level ORPHA:449563
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Weight loss, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutroph... ORPHA:99827
Trichinellosis
Increased circulating IgE level ORPHA:863
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Weight loss, Increas... ORPHA:91500
Viss Syndrome
Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Hypereosinop... OMIM:619472
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 concentration, ... ORPHA:99829
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Splenomegaly, Polysplenia ORPHA:373

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 Otud7b

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 Otud7b.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Otud7btm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Otud7btm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)