Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tumor necrosis factor (ligand) superfamily, member 13
Synonyms:
TRDL1,  TALL2,  APRIL,  2310026N09Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tnfsf13 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 Tnfsf13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hepatomegal... OMIM:300400
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Nodular regenerative hyperpla... OMIM:301082
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... ORPHA:85435
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... OMIM:209950
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... ORPHA:85410
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular... OMIM:603909
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou... ORPHA:275
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... OMIM:615577
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Cutaneous abscess, Chron... OMIM:619752
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Antinuclear antibody positivity, Decreased cir... OMIM:620514
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... ORPHA:436159
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp... OMIM:613101
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis OMIM:193670
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... ORPHA:90280
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ... ORPHA:277
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... OMIM:614700
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Increased circulating interleukin 10 concentration OMIM:613759
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Myeloma, Multiple
Paraproteinemia OMIM:254500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Patellar hypoplasia, Flexion contracture, Transient hypogammaglobulinemia of infancy OMIM:251240
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... OMIM:300755
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity ORPHA:90159
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level, Bronchiectasis OMIM:615872
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Chronic si... ORPHA:397596
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Anti-liver cytosolic ant... ORPHA:2137
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level ORPHA:37748
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration, Chilblains OMIM:615010
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... OMIM:300635
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Autoinflammation With Arthritis And Dyskeratosis
Polyarticular arthritis, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Punctate k... OMIM:617388
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s... ORPHA:158061
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu... OMIM:300972
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu... ORPHA:33355
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... ORPHA:69126
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, Eosinophilia, Mon... OMIM:226990
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Prominent metopic ridge ORPHA:85317
Aicardi-Goutieres Syndrome 5
Flexion contracture, Chilblains, Increased circulating interferon-gamma concentration, Arthropathy OMIM:612952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul... OMIM:618523
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Recurrent otitis media, Decreased circulating antibody level OMIM:616910
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent fractures OMIM:606056
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul... OMIM:620376
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane... OMIM:612301
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Limitation of movement at ankles, Limited hip movement, Limited ... ORPHA:206594
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Joint stiffness, Malar rash, Skin rash, Cytoplasmic antineutrophil antibody positi... OMIM:615934
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Abnormality of the wrist, Abnormality of the elbow ORPHA:89843
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Lambert Syndrome
Cholestasis, Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level ORPHA:1296
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Decreased circulating IgA level, Autoimmunity, Limited elbow extension, Hashimoto thyr... OMIM:613385
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, O... OMIM:620532
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating tota... ORPHA:221139
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Hepatomegal... ORPHA:79330
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607143
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... ORPHA:420741
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Anti-liver cytosolic antigen type 1 ant... ORPHA:562639
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Co... ORPHA:33110
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormality of humoral immunity, Chron... ORPHA:572
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Cystic acne, Panniculitis, Acne inversa OMIM:608068
Acute Lung Injury
Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr... ORPHA:178320
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Pustule OMIM:616069
Caffey Disease
Increased circulating antibody level ORPHA:1310
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... OMIM:615816
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con... ORPHA:449432
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Immunodeficiency 56
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron... OMIM:615207
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir... ORPHA:91139
Celiac Disease, Susceptibility To, 1
Rickets, Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous stomatitis, O... OMIM:212750
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Maternal Uniparental Disomy Of Chromosome 1
Epiphyseal stippling, Delayed closure of the anterior fontanelle, Panhypogammaglobulinemia ORPHA:251009
C3 Glomerulopathy
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Membranoprolife... ORPHA:329918
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Polyarticular arthritis, Decreased circulating antibody level, Autoimmunit... OMIM:615952
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ... ORPHA:331235
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... ORPHA:29073
Hyperimmunoglobulinemia D With Periodic Fever
Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I... ORPHA:343
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, Chronic otiti... ORPHA:217390
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Recurrent pneumonia, Decreased circulating IgA level, Osteoporosis, Flexion contracture OMIM:613327
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Infectious encepha... OMIM:209920
Adult-Onset Nemaline Myopathy
Paraproteinemia, Flexion contracture ORPHA:171442
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating IgA level, Autoimmunity, Constrictive per... ORPHA:90363
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Agammaglobulinemia, Arthr... ORPHA:47
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm... OMIM:601495
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Acute ly... ORPHA:125
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Panhypogammagl... ORPHA:79124
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Malar rash, Decreased circulati... OMIM:210900
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Ring Chromosome 21 Syndrome
Decreased circulating antibody level, Fused thoracic vertebrae ORPHA:1445
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hip contracture, Delayed prox... ORPHA:353298
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Osteopenia, Decreased circulating IgA level, Flexion contracture... OMIM:212065
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus ORPHA:100
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total... OMIM:619381
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia... OMIM:304790
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Maculopapular exanthema, Infectious encephal... ORPHA:448237
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Sclerosin... ORPHA:64744
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration ORPHA:158057
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomega... OMIM:620565
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Conjunctivitis, Increased circulating interfer... OMIM:256040
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encephalitis, P... OMIM:307200
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu... ORPHA:85436
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul... ORPHA:634
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Monosomy 18Q
Decreased circulating IgA level, Joint hypermobility ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Decreased circulating IgA level, Joint hypermobility, Decreased circulating total IgM... ORPHA:369837
Tick-Borne Encephalitis
Myelitis, Stiff neck, Abnormal circulating cytokine concentration, Increased circulating IgG leve... ORPHA:297
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Agammaglobulinemia, ... OMIM:243150
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly OMIM:605309
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Nephritis OMIM:614034
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Systemic lupus ery... ORPHA:2298
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Eczematoid dermatitis, Otitis m... OMIM:223370
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Antiphospholipid a... ORPHA:227990
Prolidase Deficiency
Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Anemia, Thromboc... OMIM:170100
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopathy, Thrombo... OMIM:617591
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Recurrent sk... OMIM:233600
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha... ORPHA:1304
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Recurrent fractures, Flex... ORPHA:3409
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Decrea... OMIM:226300
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Increased circulating IgG level, Increased circula... ORPHA:319251
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Acute infectious pneumonia, Increased circula... ORPHA:723
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Hashimoto thyroidi... ORPHA:227982
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis, Autoimmunity ORPHA:2902
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... ORPHA:1572
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Hepatic cysts, Splenic cyst, Increased circulating... ORPHA:400
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas OMIM:618162
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute... ORPHA:319218
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukopenia, ... ORPHA:77259
Vici Syndrome
Decreased circulating IgG level, Joint stiffness, Decreased circulating IgG2 level ORPHA:1493
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Ankle clonus, Aspiration pneumonia ORPHA:52368
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... OMIM:301074
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Coccidioidomycosis
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Panniculitis, Skin rash, Peritonitis, ... ORPHA:228123
Uremic Pruritus
Recurrent skin infections, Inflammatory abnormality of the skin, Abnormal circulating cytokine co... ORPHA:94059
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Abnormality of the pancreas ORPHA:935
Alg12-Cdg
Recurrent pneumonia, Abnormal circulating IgM level, Complete or near-complete absence of specifi... ORPHA:79324
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Recurrent frac... ORPHA:2314
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Decreased circulating antibody level, Erythroderma, Delayed ossification ... OMIM:617425
Q Fever
Pneumonia, Anticardiolipin IgG antibody positivity, Hepatitis, Antimitochondrial antibody positiv... ORPHA:781
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov... OMIM:613070
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Elbow flexion contra... ORPHA:3132
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Distal Deletion 19P
Decreased circulating antibody level, Joint hypermobility ORPHA:96129
Encephalitis Lethargica
Stiff neck, Autoimmunity, Increased circulating antibody level ORPHA:83600
Tafro Syndrome
Increased circulating interleukin 6 concentration ORPHA:457077
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia... OMIM:242900
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan... OMIM:614576
Lassa Fever
Conjunctivitis, Increased circulating IgM level ORPHA:99824
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegaly, Abnormal intra... ORPHA:186
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous ca... ORPHA:391487
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... ORPHA:449563
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... OMIM:615508
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopeni... OMIM:617303
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Otitis media, Sinusitis, Decreased circ... ORPHA:51636
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Cholecystitis, Splenomegaly, Jaundice, Lymphadenopathy, H... ORPHA:99827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocyto... OMIM:615688
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent otitis media, Psoriasiform dermatitis, Recurrent sinusitis, Autoim... ORPHA:293978
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasi... ORPHA:83617
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Retic... OMIM:618278
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo... ORPHA:79329
Primary Sjögren Syndrome
Arteritis, Chronic hepatitis, Increased circulating antibody level, Lymphocytic interstitial pneu... ORPHA:289390
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Pancreatitis, Myocardi... ORPHA:544482
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly OMIM:248500
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Cowden Syndrome 1
Decreased circulating antibody level, Thyroiditis OMIM:158350
Poems Syndrome
Polycythemia, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Thrombocytosis... ORPHA:2905
Viss Syndrome
Atopic dermatitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent joint disloc... OMIM:619472
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Increased circulating antibod... ORPHA:91500
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Flexion contracture, Keratoconjunctivitis sicca, Erythroderma OMIM:601675
Castleman Disease
Increased circulating interleukin 6 concentration ORPHA:160
Syndromic Diarrhea
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ... ORPHA:84064
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Osteopenia, Genu valgum, Limited elbow extension, Laryngotracheo... OMIM:271510
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Thrombocytopenia, Hepat... ORPHA:77261
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Enterocolitis ORPHA:90051
Cysticercosis
Stiff neck, Infectious encephalitis, Increased circulating antibody level, Iridocyclitis, Increas... ORPHA:1560
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, D... OMIM:222470
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Decreased circulating antibody level, Recurrent skin infections ORPHA:79396
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Dysgammaglobulinemia, S... OMIM:251260
Hennekam Syndrome
Lymphopenia, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Pulmonary lymph... ORPHA:2136
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension... ORPHA:171
Trichothiodystrophy
Osteopenia, Joint dislocation, Eczematoid dermatitis, Panhypogammaglobulinemia, Multiple joint co... ORPHA:33364
Al Amyloidosis
Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level, Anemia, Hepa... ORPHA:85443
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Lysinuric Protein Intolerance
Osteopenia, Abnormality of humoral immunity, Pathologic fracture, Reduced circulating complement ... ORPHA:470
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Cartilage-Hair Hypoplasia
Limited elbow extension, Joint hypermobility, Abnormal bone ossification, Decreased circulating a... ORPHA:175
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level, Acute pancrea... ORPHA:99829
Japanese Encephalitis
Genu recurvatum, Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Inf... ORPHA:79139
Aicardi-Goutieres Syndrome 7
Hepatitis, Pancytopenia, Hepatic steatosis, Splenomegaly, Increased circulating antibody level, A... OMIM:615846
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Anemia, Hepatomegaly, Jaundice, Decreased cir... ORPHA:247598
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Scleromyxedema
Paraproteinemia ORPHA:167635
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ... ORPHA:355
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Patellar aplasia, Carpal bone hypoplasia, Seborrheic dermatitis, Genu varum, P... OMIM:274000
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Recurrent otitis media, Abnormal isohemagglutinin level, Severe p... ORPHA:99843
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt... ORPHA:100026
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... ORPHA:206572
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... OMIM:607944
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous ... OMIM:147060
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Glomerulonephritis, Increased circulating interleukin 6 concentration, Acute tubuloint... ORPHA:340
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Sponastrime Dysplasia
Delayed epiphyseal ossification, Recurrent pneumonia, Shallow acetabular fossae, Ivory epiphyses ... ORPHA:93357
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... ORPHA:79128
Igg4-Related Retroperitoneal Fibrosis
Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif... ORPHA:49041
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Simpson-Golabi-Behmel Syndrome
Polysplenia, Increased circulating IgE level, Splenomegaly, Pancreatic islet-cell hyperplasia, He... ORPHA:373
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Autoimmune antibody positivity ORPHA:75565
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Joint hypermobility, Sagittal craniosy... ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Genu valgum, Right unicoronal synostosis, Camptodactyly, Flexion contract... ORPHA:261537
Mowat-Wilson Syndrome
Recurrent otitis media, Genu valgum, Enterocolitis, Camptodactyly, Flexion contracture, Decreased... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Recurrent otitis media, Genu valgum, Right unicoronal synostosis, Camptodactyly, Flexion contract... 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 Tnfsf13

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 Tnfsf13.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
An unappreciated cell survival-independent role for BAFF initiating chronic lymphocytic leukemia. Frontiers in immunology (February 2024) Tnfsf13tm1(KOMP)Wtsi PMC10927009

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tnfsf13tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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