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Gene: Otud7b MGI:2654703

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 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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FCS thumbnail FCS
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
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Lymphadenopathy, Recurrent infections, Increased circulating IgG... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Recurrent bacterial infections, Increase... OMIM:608106
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Immunodeficiency 33
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:613502
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Recurrent viral infections, Decreased p... OMIM:618048
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections OMIM:146830
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... OMIM:618987
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:612692
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... OMIM:300400
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... ORPHA:98813
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu... OMIM:601859
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci... OMIM:137100
Immunodeficiency 62
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... OMIM:618459
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Recurrent infections OMIM:616941
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... OMIM:615285
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Increased circu... OMIM:603909
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, Recurrent opportunistic infections, Recurrent... ORPHA:277
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections, Monocytosis, Decr... OMIM:615592
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphadenopa... OMIM:240500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent upper respiratory tract infections, ... OMIM:618944
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Follicular hyperplasia, Autoimm... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Recurrent respiratory infections, Increased circulating IgE leve... OMIM:615767
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, Recurrent infection... ORPHA:169160
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent oppo... ORPHA:275
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... OMIM:269840
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymphatic leukem... OMIM:616005
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... OMIM:617514
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Recu... OMIM:300291
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Recurrent infections, ... OMIM:618261
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Lymphopenia, Failure to thrive in infancy, Decreased circulatin... OMIM:619510
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circulating antibody... ORPHA:100024
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Lymphopenia, Increased circulating IgA level, Follicular hyperp... OMIM:615934
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... OMIM:617099
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating... OMIM:614069
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... OMIM:616100
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Recurrent infections, Neutropenia, Lymphopenia OMIM:616395
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thriv... OMIM:606367
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphadenopathy, Incre... ORPHA:397596
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive... OMIM:619693
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon... OMIM:601457
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Failure to thrive, Decreased circulating IgA level,... OMIM:617744
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Wiskott-Aldrich Syndrome
Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on... OMIM:301000
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytosis, Recurre... OMIM:260920
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Severe B lymphocytopenia, Aplasia of the th... OMIM:102700
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess OMIM:619437
Immunodeficiency 22
Failure to thrive, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decre... OMIM:615758
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recu... OMIM:602450
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, D... OMIM:618986
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Increased circula... OMIM:619752
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Sepsis, Decreased circulating IgG level, Autoimmune thrombocytopenia... OMIM:614700
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE le... OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... OMIM:147060
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infections, T lymphocytopen... ORPHA:572
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Frequent Giardia lamblia infestation, Recurrent pneumonia, Decre... OMIM:615577
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... OMIM:619652
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulatin... ORPHA:29073
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosple... ORPHA:911
Selective Igm Deficiency
Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent cutaneous ... ORPHA:331235
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Recurrent pneumonia, Recurrent bronchiolitis, Increased circulating IgE level OMIM:616069
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
Increased circulating antibody level, Weight loss ORPHA:411593
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... OMIM:209920
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Weight los... ORPHA:91139
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Rec... OMIM:226990
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Xq28 (MECP2) duplication
Recurrent respiratory infections, Failure to thrive, Decreased circulating IgA level DECIPHER:45
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Increased circulating IgA level ORPHA:343
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Recurrent infections, Lymphadenopathy, B ... OMIM:301078
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Small for gestational age, Decreased circulating IgA level OMIM:215250
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level OMIM:618042
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... OMIM:618523
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Myeloma, Multiple
Paraproteinemia OMIM:254500
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, We... ORPHA:507
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... OMIM:275350
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte... ORPHA:79124
Postinfectious Vasculitis
Increased circulating IgA level, Recurrent mycobacterial infections, Recurrent candida infections... ORPHA:48435
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased circulating complement factor B concentration, Increased ci... ORPHA:2298
Primary Biliary Cholangitis
Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin... ORPHA:186
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Netherton Syndrome
Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Hypereosino... OMIM:256500
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased proport... OMIM:615518
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced natural killer cel... OMIM:242860
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Recurrent infections, Decreased circulating total IgM, Failure t... OMIM:620040
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Lymphopenia, Abscess, Recurrent staphylococca... OMIM:615816
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, R... ORPHA:221139
Primary Intestinal Lymphangiectasia
Lymphopenia, Weight loss, Decreased circulating antibody level, Decreased circulating total IgM, ... ORPHA:90362
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Recurrent infections, Increased cir... OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Splenomegaly, Decreased circulating antibody level, Recurren... OMIM:300972
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... ORPHA:449400
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Recurrent infections, Increased circulating ... OMIM:170100
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent up... ORPHA:183675
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Acute lymphoblastic leukemia, T ... OMIM:208900
Tularemia
Brain abscess, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Leukocytosis, Thrombocytope... ORPHA:3392
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
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Lym... OMIM:304790
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Paraproteinemia, Decreased circulating complem... ORPHA:329918
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... OMIM:618213
Pneumocystosis
Abnormal neutrophil count, Weight loss, Increased circulating antibody level, Chronic oral candid... ORPHA:723
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Patent ductus arteriosus, Recurrent upper respirato... OMIM:607143
Alg12-Cdg
Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating IgA level, Parti... ORPHA:79324
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency 68
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Sple... OMIM:613385
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Caffey Disease
Increased circulating antibody level ORPHA:1310
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating splenomegaly, Increased ... OMIM:610377
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss ORPHA:2902
Smith-Kingsmore Syndrome
Large for gestational age, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Recurrent infections... OMIM:619381
Riddle Syndrome
Generalized lymphadenopathy, Recurrent viral infections, Recurrent pneumonia, Weight loss, Decrea... ORPHA:420741
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Congenital Analbuminemia
Small for gestational age, Recurrent lower respiratory tract infections, Increased circulating an... ORPHA:86816
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Recurrent pneumonia, Recurrent infections, Failure to thrive, Decreased circulating... OMIM:613327
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,... OMIM:210900
Netherton Syndrome
Recurrent respiratory infections, Decreased circulating antibody level, Increased circulating IgE... ORPHA:634
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus... OMIM:617303
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive, Decrea... OMIM:212750
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Patent ductus arterios... OMIM:620005
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level ORPHA:457485
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cach... ORPHA:37042
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity ORPHA:3409
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec... ORPHA:90363
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect... ORPHA:2314
Cystic Echinococcosis
Abscess, Eosinophilia, Weight loss, Increased circulating antibody level, Splenic cyst, Peritonea... ORPHA:400
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating an... ORPHA:77259
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level OMIM:615508
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy,... ORPHA:449432
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Poems Syndrome
Lymphadenopathy, Weight loss, Increased circulating antibody level, Thrombocytosis, Polycythemia ORPHA:2905
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... OMIM:617062
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Monosomy 18Q
Patent ductus arteriosus, Failure to thrive, Slender build, Decreased circulating IgA level ORPHA:1600
Lead Poisoning
Small for gestational age, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno... ORPHA:330015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Sepsis, Hepatosplen... ORPHA:505248
Q Fever
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Granuloma, Incr... ORPHA:781
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... ORPHA:508533
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circulating antib... ORPHA:284
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... OMIM:223370
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... ORPHA:77261
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Brucellosis
Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Splenomegaly, Leukocytosis... ORPHA:1304
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Thrombocytopenia, Weig... OMIM:615846
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Patent ductus arteriosus, Obesity, Decreased circulating IgA level ORPHA:369837
Lysinuric Protein Intolerance
Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent bacterial i... ORPHA:470
Al Amyloidosis
Howell-Jolly bodies, Increased circulating antibody level, Anemia, Weight loss ORPHA:85443
Primary Sjögren Syndrome
Normocytic anemia, Lymphadenopathy, Decreased circulating antibody level, Leukopenia, Normochromi... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Mediastinal lymphade... OMIM:181000
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... ORPHA:171
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Increased circulating IgE level, W... ORPHA:449395
Scleromyxedema
Paraproteinemia ORPHA:167635
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, I... ORPHA:228123
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Lymphadenopathy, Leukopenia,... ORPHA:99826
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level, Lymphadenopathy ORPHA:449563
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating Ig... ORPHA:99827
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal tubular epithelial necrosis, Weight loss, Increased circulating IgG leve... ORPHA:91500
Trichinellosis
Increased circulating IgE level ORPHA:863
Gaucher Disease
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:355
Cysticercosis
Increased circulating antibody level ORPHA:1560
Viss Syndrome
Patent ductus arteriosus, Increased circulating IgE level, Hypereosinophilia, Increased circulati... OMIM:619472
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, 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)