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Gene: Niban3 MGI:3686743

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Gene Summary

Name:
niban apoptosis regulator 3
Synonyms:
Fam129c,  Bcnp1

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
abnormal eye morphology Niban3em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Niban3em1(IMPC)Mbp HOM Early adult 0.00
abnormal thymus morphology Niban3em1(IMPC)Mbp HOM Early adult 0.00
abnormal adrenal gland morphology Niban3em1(IMPC)Mbp HOM Early adult 0.00
enlarged thymus Niban3em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Niban3 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 Niban3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... OMIM:616005
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... OMIM:619652
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Activated Pi3K-Delta Syndrome
Splenomegaly, Increased circulating IgM level, B lymphocytopenia, Decreased circulating antibody ... ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Schnitzler Syndrome
Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... OMIM:615559
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio OMIM:618495
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... ORPHA:276
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... ORPHA:277
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... OMIM:620210
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia ORPHA:100025
Reticular Dysgenesis
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:33355
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... OMIM:300755
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Myeloma, Multiple
Paraproteinemia OMIM:254500
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... OMIM:301078
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... OMIM:615816
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia OMIM:608184
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level, Leukopenia, Thrombocytosis, Lym... OMIM:615934
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... OMIM:615122
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... ORPHA:507
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... OMIM:300972
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level ORPHA:100
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Caffey Disease
Increased circulating antibody level ORPHA:1310
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Immunodeficiency 12
Abnormal lymphocyte count, Absent isohemagglutinin level, Complete or near-complete absence of sp... OMIM:615468
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level OMIM:613385
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hypocell... OMIM:617303
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... OMIM:620005
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Roifman Syndrome
Hepatosplenomegaly, Decreased T cell activation, Eosinophilia, Decreased circulating antibody level ORPHA:353298
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Lassa Fever
Increased circulating IgM level ORPHA:99824
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level OMIM:619750
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells... ORPHA:79124
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Decreased c... OMIM:619381
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Decreased circulating IgA level OMIM:613327
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level ORPHA:169105
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... ORPHA:540
Igg4-Related Pachymeningitis
Complement deficiency, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy... ORPHA:505248
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level OMIM:226300
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... ORPHA:99867
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia OMIM:170100
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Leukemia, Cryoglobulinemia, Monoclon... ORPHA:33226
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Increas... ORPHA:1304
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Increas... ORPHA:2298
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... OMIM:242900
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... ORPHA:77259
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ... ORPHA:228123
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... ORPHA:96181
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Crypto... ORPHA:90791
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Hi... ORPHA:171
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Whim Syndrome
Lymphopenia, Neutropenia, Abnormal neutrophil morphology, Decreased circulating antibody level ORPHA:51636
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp... OMIM:610377
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase... ORPHA:99827
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr... OMIM:202010
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... ORPHA:90790
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... ORPHA:227990
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... OMIM:615688
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... OMIM:242840
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... ORPHA:227982
Trichothiodystrophy 5, Nonphotosensitive
Chronic decreased circulating IgG1 OMIM:300953
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia ORPHA:2905
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:77261
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Al Amyloidosis
Howell-Jolly bodies, Increased circulating antibody level, Anemia ORPHA:85443
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Q Fever
Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Granuloma, Increased circulating antibody lev... ORPHA:781
Scleromyxedema
Paraproteinemia ORPHA:167635
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Primary Sjögren Syndrome
Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased circulating ant... ORPHA:289390
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen... ORPHA:84064
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
Hennekam Syndrome
Splenomegaly, Lymphopenia, Decreased circulating antibody level ORPHA:2136
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia ORPHA:99843
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level OMIM:222470
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Lysinuric Protein Intolerance
Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Abnormality of humora... ORPHA:470
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... OMIM:301074
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Anemia, Decreased circulating antibody level ORPHA:247598
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Throm... OMIM:615846
Postinfectious Vasculitis
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... ORPHA:48435
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Decreased circulating antibody level ORPHA:175
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Anemia, Neutropenia ORPHA:33364
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia OMIM:181000
Cysticercosis
Increased circulating antibody level ORPHA:1560
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Increased circul... ORPHA:99826
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Trichinellosis
Increased circulating IgE level ORPHA:863
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Gaucher Disease
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:355
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Doors Syndrome
Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level ORPHA:261552

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 Niban3

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 Niban3.

No publications found that use IMPC mice or data for Niban3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Niban3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Niban3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Niban3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Niban3em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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