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Gene: Il17b MGI:1928397

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interleukin 17B
Synonyms:
Zcyto7,  1110006O16Rik,  1700006N07Rik

Order Alleles

IMPC Data Collections

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

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.

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 Il17b 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 Il17b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... OMIM:617638
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... ORPHA:169160
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... OMIM:243700
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... OMIM:226990
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... OMIM:615767
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... OMIM:209920
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... OMIM:614372
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... OMIM:618523
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... OMIM:300635
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar... OMIM:618108
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... ORPHA:90045
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Increased ci... OMIM:605258
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... ORPHA:275
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia ORPHA:482
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Splenomegaly, Abnormal natural killer cell physiolo... OMIM:613101
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Immunodeficiency 88
BCGosis, Eosinophilia OMIM:619630
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Severe in... OMIM:304790
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Failure to thrive, Recurrent skin infections, ... OMIM:256500
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of anti-neutropil... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circul... OMIM:602450
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Chr... OMIM:102700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... OMIM:301074
Immunodeficiency With Hyper-Igm, Type 3
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Neutr... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper an... OMIM:608106
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Immunodeficiency, Common Variable, 2
Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conj... OMIM:240500
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... OMIM:601495
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... OMIM:619693
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... OMIM:603909
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Abdominal pain, Malab... ORPHA:2070
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Thrombocytope... ORPHA:158061
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia ORPHA:2582
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... ORPHA:70578
Roifman Syndrome
Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... ORPHA:353298
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Bronchiec... OMIM:615468
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Iron deficiency anemia, Inflammation of the large intestine, Absent mic... OMIM:301000
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Thrombocyt... ORPHA:540
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Sepsis, Abnorma... ORPHA:178320
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Recurrent infections, Feeding difficulties, Eosinophilia, Abnormally low T cell receptor excision... OMIM:618092
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... OMIM:618048
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... OMIM:613496
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Meningitis, Increased circulating I... ORPHA:1163
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... ORPHA:74
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... ORPHA:2902
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Sever... ORPHA:2686
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Meningitis, Anemia OMIM:607115
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Increased circu... ORPHA:2314
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colit... ORPHA:37042
Omenn Syndrome
Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Sepsis,... ORPHA:39041
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Increased circu... OMIM:615285
Immunodeficiency 46
Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Decreased circulating antibody level, Co... OMIM:616740
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopen... OMIM:617425
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... OMIM:613960
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Cystic Echinococcosis
Abdominal symptom, Invasive parasitic infection, Eosinophilia, Abscess, Unusual infection, Weight... ORPHA:400
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... ORPHA:90051
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Roifman Syndrome
Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media OMIM:616651
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... ORPHA:391487
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Wei... ORPHA:139402
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... ORPHA:542323
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, Leukocytosi... OMIM:619652
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Abdominal pa... ORPHA:98849
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated ci... OMIM:308240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction... ORPHA:183
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... ORPHA:67
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sinusitis, Pn... OMIM:613179
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Eosinophilia, Anorexia, Abdominal pain... ORPHA:199299
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Abdominal pain, Weight loss, Abnormal spleen morphology... ORPHA:284
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... ORPHA:221139
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233690
Wells Syndrome
Eosinophilia ORPHA:901
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Nephritis, P... ORPHA:449427
Coccidioidomycosis
Pericarditis, Coccidioidal meningitis, Osteomyelitis, Abscess, Eosinophilia, Pneumonia, Erythema ... ORPHA:228123
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivit... ORPHA:810
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... ORPHA:293173
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Prostatitis, Increased circulating I... ORPHA:449432
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Chronic diarrhea, Decreased specific anti-polysaccharide antibody lev... OMIM:614576
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... ORPHA:3260
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... OMIM:150550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, I... OMIM:617099
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... OMIM:612840
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Elevated circulating C-re... ORPHA:324964
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro... OMIM:619752
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abdominal pain ORPHA:724
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Postinfectious Vasculitis
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... ORPHA:48435
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, P... OMIM:618986
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... OMIM:158310
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Sial... ORPHA:449395
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... OMIM:300291
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Recurrent infections, Bloody diar... OMIM:617718
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... ORPHA:90038
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, B lymphocytopenia, Bone marrow hypocellul... OMIM:301078
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Syndromic Diarrhea
Dependency on intravenous nutrition, Villous atrophy, Gastritis, Hepatoblastoma, Increased mean p... ORPHA:84064
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal ab... OMIM:612541
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Chronic diarr... OMIM:300972
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Keratitis, Orchitis, Incr... ORPHA:449563
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Mirage Syndrome
Recurrent urinary tract infections, Esophageal stricture, Chronic diarrhea, Sepsis, Anemia, Leuko... OMIM:617053
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:306400
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive... OMIM:242840
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... ORPHA:811
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Splenomegaly, Defective production of NFKB1-dependent cytokines... OMIM:612132
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Hematochezia... OMIM:615895
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Neoplasm of the gallbladder, Aden... ORPHA:171
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Bone ... ORPHA:3226
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Abd... ORPHA:829
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Sepsis, Decr... OMIM:619573
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... OMIM:608233
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Leukocytosis, Cleft palate, Hepatosplenomegaly, Anemia, Decr... OMIM:274000
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurre... OMIM:609536
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Uveitis, In... ORPHA:36412
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrop... OMIM:619644
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Abdominal pain, Splenomegaly, Abnormality of cytokine... ORPHA:567983
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... ORPHA:60033
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Opportunistic bacterial infection, Lymphadenitis, Knee osteoarthrit... ORPHA:2035
Incontinentia Pigmenti
Skin rash, Eosinophilia, Keratitis, Uveitis, Infectious encephalitis ORPHA:464
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macroglossia, Recurre... OMIM:248500
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Elevated circulating creat... OMIM:201475
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Diarrhea... OMIM:260920
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis OMIM:308300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Thrombocytop... ORPHA:91547
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... ORPHA:309031
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Malnutri... ORPHA:75565
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, R... ORPHA:79259
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... OMIM:619472
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Lysinuric Protein Intolerance
Failure to thrive, Glomerulonephritis, Thrombocytopenia, Diarrhea, Hepatosplenomegaly, Decreased ... ORPHA:470
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Sarcoidosis
Abnormality of the gastrointestinal tract, Hemolytic anemia, Maculopapular exanthema, Eosinophili... ORPHA:797
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the... OMIM:232220
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Intestinal malrotation, Asplenia, Recurrent mycobacterial inf... ORPHA:244
Sickle Cell Disease
Hemolytic anemia, Abdominal pain, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacte... OMIM:603903
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein concentration, Ab... OMIM:612852
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anorexia ORPHA:1302
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Herpes Simplex Virus Encephalitis
Nausea and vomiting, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentr... ORPHA:1930
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Anorexia, Splenomegaly, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthri... OMIM:181000
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Cocaine Intoxication
Glomerulonephritis, Elevated circulating creatine kinase concentration, Abdominal pain, Intestina... ORPHA:90068
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Splenomegaly, Lymp... ORPHA:707
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... ORPHA:36238
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, ... OMIM:232240
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Bifid uvula OMIM:241410
Cushing Disease
Acne, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Truncal obesity... ORPHA:96253
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, High palate, Hepatic failure, Polycythemia OMIM:606812
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Severe periodontitis, Protruding tongue, Keratitis, Microcytic anemia, Leukocytosis... ORPHA:99843
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Anorexia, Leukocytosis, D... ORPHA:99889
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Feeding difficult... ORPHA:221
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Increased circulating IgG level, Le... ORPHA:99827
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit... ORPHA:2273
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder, Elevated circula... ORPHA:70591
Yellow Fever
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... ORPHA:99829
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gas... ORPHA:2152
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99226
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Feeding difficulties, Recurrent Staphylococcus aureus infectio... ORPHA:642

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 Il17b

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 Il17b.

No publications found that use IMPC mice or data for Il17b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Il17btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Il17btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il17btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Il17btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Il17btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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