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Gene: Ccr4 MGI:107824

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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:
chemokine (C-C motif) receptor 4
Synonyms:
Cmkbr4,  CC CKR-4

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 Ccr4 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 Ccr4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Lack of T cell function, Recu... ORPHA:277
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... ORPHA:217390
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... OMIM:615767
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia, Onychomycosis OMIM:212050
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... OMIM:619220
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... OMIM:147060
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma OMIM:147050
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... OMIM:618523
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Atopic dermatitis, Crackles, Increased circulating IgE level, ... ORPHA:2902
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... OMIM:617241
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Decreased circulating Ig... OMIM:102700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... OMIM:617514
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... OMIM:209950
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased circulating a... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive sec... ORPHA:169160
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Chronic ... OMIM:613502
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma,... OMIM:606367
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Netherton Syndrome
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Recurrent infections, Increased... OMIM:256500
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Neutropenia, Infectious encephalitis, Pneumonia, Bronch... ORPHA:1163
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Hypoxemia, Pneu... ORPHA:178320
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections OMIM:618985
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec... OMIM:617744
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infections, Splenom... OMIM:614470
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... OMIM:609529
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Adult Acute Respiratory Distress Syndrome
Sepsis, Hypoxemia, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal blood g... ORPHA:70578
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respiratory infec... OMIM:618986
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent candida infec... OMIM:269840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Stomatitis, Decreased circulating IgA level,... OMIM:308230
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... ORPHA:540
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Hepatiti... OMIM:304790
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Agammaglobulinemia, Recurrent p... OMIM:613500
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Recurrent infections, Cough, Osteomyelitis, Increased circulating I... ORPHA:2314
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Peeling Skin Syndrome 1
Increased circulating IgE level, Asthma OMIM:270300
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l... OMIM:301000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, I... ORPHA:3243
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Decreas... OMIM:616100
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... OMIM:616576
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Recurrent infections, Increased circu... ORPHA:634
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B ce... OMIM:615559
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... OMIM:300310
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Increa... ORPHA:90280
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Megaloblastic an... OMIM:617780
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Tachypnea, Anemia... OMIM:615934
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Recurrent infections, Reduced natural killer cell count, He... OMIM:618261
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Recurrent bronchitis, Bronchiectasis, Recurrent ... OMIM:300853
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutro... ORPHA:37042
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Myocarditis, Increased circulating interleukin 6, Pneumonia, Acute c... ORPHA:544482
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... ORPHA:2643
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Recurrent infections, Skin rash OMIM:618048
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... OMIM:300635
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Immunodeficiency 37
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... OMIM:616098
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... OMIM:251190
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level, Asthma OMIM:208600
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... OMIM:614700
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Recurrent herpes, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Respiratory distress, Increased circulatin... ORPHA:3392
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... OMIM:616005
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Reticular Dysgenesis
Sepsis, Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash... ORPHA:33355
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Increased circulating antibody level,... OMIM:178500
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Epistaxis, Intermittent ... OMIM:313900
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Immunodeficiency 19
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia OMIM:615617
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Lymphoproliferative Syndrome 1
Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, An... OMIM:613011
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... OMIM:618116
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Glomerulonephriti... OMIM:613496
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Apnea,... OMIM:608809
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan... OMIM:209920
Tempi Syndrome
Hypoxemia, Polycythemia, Increased circulating IgG level, Transudative pleural effusion, Increase... ORPHA:284227
Leishmaniasis
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... ORPHA:507
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... ORPHA:33110
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash ORPHA:37748
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Lymphoproliferative Syndrome 2
Sepsis, Decreased circulating antibody level, Decreased lymphocyte proliferation in response to m... OMIM:615122
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Abnorm... ORPHA:330015
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Recurrent viral upper respiratory tract... OMIM:615577
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly OMIM:605309
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Immunodeficiency 40
Lymphopenia OMIM:616433
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Hepatitis, Cough, Increased circulating antibody level, Lymphopenia, Acute pa... ORPHA:319218
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis... OMIM:267500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM OMIM:300636
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Recurrent ear infections, Recurrent viral infections, Anemia, Cou... ORPHA:79124
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Comp... ORPHA:449432
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Eosinophilia, Increased circulating IgG1 level, Inflammatory abnorm... ORPHA:449395
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Prolidase Deficiency
Eczema, Chronic lung disease, Anemia, Recurrent infections, Splenomegaly, Crusting erythematous d... OMIM:170100
Immunodeficiency 20
Wheezing, Recurrent oral herpes, Reduced natural killer cell activity, Recurrent otitis media, Re... OMIM:615707
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... OMIM:242860
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Increased circu... ORPHA:2137
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Anemia, Recurrent infections, Arthritis, Splenomegaly, Increas... OMIM:617591
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... OMIM:614878
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Tachypnea, A... ORPHA:542323
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis... ORPHA:449427
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Adult-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Paraproteinemia, Reduced vital capacity ORPHA:171442
Myeloma, Multiple
Paraproteinemia OMIM:254500
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Whim Syndrome
Recurrent bacterial infections, Sepsis, Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lympha... ORPHA:51636
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... OMIM:617099
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Common Variable Immunodeficiency
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Decreased circulating anti... ORPHA:1572
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Monoclonal immunoglobulin M proteinemi... ORPHA:91139
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Neonatal respiratory distress, Decreased circulating antibody level, Decreased circulating total ... ORPHA:221139
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni... ORPHA:47
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Decreased... OMIM:615952
Ataxia-Telangiectasia
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia ORPHA:100
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... ORPHA:449563
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Good Syndrome
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Recurrent urinary... ORPHA:169105
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Recurrent... OMIM:260920
Ataxia-Telangiectasia
Sinusitis, Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell diff... OMIM:208900
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Liver abscess, L... ORPHA:1304
Icf Syndrome
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... ORPHA:2268
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... OMIM:307200
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... ORPHA:85436
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Neutrop... OMIM:613179
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Hereditary Folate Malabsorption
Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Recurrent urinary tract in... ORPHA:90045
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
C3 Glomerulopathy
Decreased serum complement C4, Recurrent infections, Paraproteinemia, Decreased serum complement ... ORPHA:329918
Coccidioidomycosis
Pleural empyema, Eosinophilia, Morbilliform rash, Pericarditis, Folliculitis, Osteomyelitis, Skin... ORPHA:228123
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Recur... OMIM:210900
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Immunodeficiency 58
Eczema, Chronic otitis media, Decreased circulating antibody level, Recurrent respiratory infecti... OMIM:618131
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent upper respiratory tract infe... OMIM:615518
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Recurr... ORPHA:391487
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Decreased circulating antibody level, Recurrent infections, Lymphopenia, Eosinophilia OMIM:617425
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Abnormal cytokine signaling, Neutropenia, Anemia, Splenomegaly, A... ORPHA:158048
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Nephritis, Bone marrow hy... OMIM:617303
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Aplasia of the thymus, Recurrent upper respiratory tract infections, Otitis media, Pan... OMIM:602450
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... ORPHA:29073
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... OMIM:242900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemoly... ORPHA:444463
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Colitis OMIM:615190
Bloom Syndrome
Acute lymphoblastic leukemia, Recurrent herpes, Decreased circulating antibody level, Recurrent i... ORPHA:125
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Erythema nodosum, Episcleritis, Increased circulating IgA le... OMIM:256040
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Respiratory insufficiency OMIM:618042
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... OMIM:615207
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Immunodeficiency 76
B lymphocytopenia, Colitis, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolit... OMIM:619164
Gaucher Disease Type 1
Leukopenia, Pulmonary arterial hypertension, Anemia, Splenomegaly, Hypersplenism, Increased circu... ORPHA:77259
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Insulin-Resistance Syndrome Type B
Leukopenia, Pneumonia, Increased circulating IgA level, Nephritis, Decreased serum complement fac... ORPHA:2298
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Rift Valley Fever
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Uveitis, Increased c... ORPHA:319251
Thymoma
Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Glomerulonephritis, Myositis,... ORPHA:99867
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Defective production of NFKB1-dependent cytoki... OMIM:612132
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Chronic otitis media, Bone marrow hypocellularity, Splenomegaly, My... ORPHA:3226
Trichinellosis
Increased circulating IgE level, Skin rash, Conjunctivitis ORPHA:863
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal absce... OMIM:618935
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Sézary Syndrome
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Erythroderma, Splenomegaly ORPHA:3162
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Increased circulating antibody... ORPHA:400
Q Fever
Myocarditis, Pericarditis, Infectious encephalitis, Cryoglobulinemia, Pneumonia, Endocarditis, He... ORPHA:781
Lassa Fever
Sepsis, Cough, Increased circulating IgM level, Dyspnea, Conjunctivitis ORPHA:99824
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Sepsis, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural e... ORPHA:36238
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Sepsis, Decreased proportion of class-switched memory B cells, Decre... OMIM:233600
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hashimoto thyroiditis, Reduced forced expiratory volume in one second, Decreased circulating IgA ... OMIM:613385
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media OMIM:618428
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Recurrent viral infections... ORPHA:293978
Cryptogenic Organizing Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... ORPHA:1302
Sepsis In Premature Infants
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Abnormal respiratory system physi... ORPHA:90051
Zika Virus Disease
Infectious encephalitis, Arthritis, Increased circulating IgM level, Maculopapular exanthema, Ski... ORPHA:448237
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Pneumonia, Iron deficiency anemia, Decreased circulating antibody level, Recurren... OMIM:226300
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Pericarditis, Episcleritis, Synovitis, Rhinitis, Chronic otitis m... ORPHA:47612
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Eczema, Leukopenia, Decreased circulating antibody level, Bone marr... OMIM:615688
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... OMIM:300972
Crimean-Congo Hemorrhagic Fever
Myocarditis, Leukocytosis, Erythema nodosum, Leukopenia, Epistaxis, Pulmonary arterial hypertensi... ORPHA:99827
Encephalitis Lethargica
Increased circulating antibody level, Hyperventilation, Recurrent viral infections ORPHA:83600
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Normochromic anemia, Decreased circulating antibody level, Parotiti... ORPHA:289390
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Recurrent infectio... OMIM:610377
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Alveolar Echinococcosis
Cholangitis, Anemia, Cough, Abnormal spleen morphology, Increased circulating antibody level, Dys... ORPHA:284
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... OMIM:150550
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Eosinophilia, Lymphopenia ORPHA:2582
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Enteroviral dermat... OMIM:300755
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Restrictive ventilatory defect, Pericarditis, Hepatitis, Bone marrow h... ORPHA:829
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Recurrent... OMIM:612301
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... ORPHA:1493
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating ... OMIM:619381
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Airway obstruction, Stridor, Leukopenia, Decreased circulating IgG level, Pulmonary arter... ORPHA:505248
Cyclic Neutropenia
Sinusitis, Sepsis, Enterocolitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Rec... ORPHA:2686
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased circulating IgA level, Decreased circulating antibody level,... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Hypoventilation OMIM:606056
Poems Syndrome
Thrombocytosis, Polycythemia, Respiratory insufficiency due to muscle weakness, Pulmonary arteria... ORPHA:2905
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infe... ORPHA:420741
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Splenomegaly ORPHA:567983
Avian Influenza
Productive cough, Sepsis, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, P... ORPHA:454836
Immunodeficiency 31C
Eczema, Chronic mucocutaneous candidiasis, Lymphopenia, Recurrent respiratory infections, Autoimm... OMIM:614162
Alg12-Cdg
B lymphocytopenia, Sepsis, Recurrent ear infections, Complete or near-complete absence of specifi... ORPHA:79324
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Legionnaires Disease
Myocarditis, Sepsis, Restrictive ventilatory defect, Pericarditis, Respiratory insufficiency, Inf... ORPHA:549
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Hypoxemia, Inflammation of the large intestine, Bronchiectasis, P... OMIM:181000
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Recurrent lower respiratory tract infections, Membranoproliferative glomerulonephrit... OMIM:619644
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Leukocytosis, Recurrent otitis media, Anemia, Recurrent infectio... ORPHA:99843
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Splenomegaly ORPHA:373
Gaucher Disease Type 3
Pulmonary arterial hypertension, Anemia, Splenomegaly, Increased circulating antibody level, Panc... ORPHA:77261
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Respiratory insufficiency, Leukopenia, Monoc... OMIM:612541
Cowden Syndrome 1
Thyroiditis, Decreased circulating antibody level, Recurrent infections, Lymphopenia OMIM:158350
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... ORPHA:48435
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis, Peritonitis ORPHA:343
Japanese Encephalitis
Infectious encephalitis, Abnormal pattern of respiration, Respiratory paralysis, Neutrophilia, In... ORPHA:79139
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233710
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Igg4-Related Thyroid Disease
Hashimoto thyroiditis, Thyroiditis, Increased circulating IgG4 level, Sclerosing cholangitis ORPHA:64744
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Asthma ORPHA:457485
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Increased circulating IgA lev... ORPHA:79078
Hemochromatosis, Type 3
Anemia, Arthritis, Neutropenia, Lymphopenia OMIM:604250
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233690
Viss Syndrome
Atopic dermatitis, Eczema, Decreased circulating IgA level, Pneumothorax, Pulmonary arterial hype... OMIM:619472
Al Amyloidosis
Obstructive sleep apnea, Anemia, Increased circulating antibody level, Howell-Jolly bodies, Nonpr... ORPHA:85443
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia OMIM:616744
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Impair... ORPHA:1830
Scleromyxedema
Exertional dyspnea, Paraproteinemia ORPHA:167635
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG level, Recurrent infections, ... OMIM:601675
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Eczema, Macrocytic anemia, Stomatitis, Decreased circulating IgA level, Iron defi... OMIM:212750
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia OMIM:208910
Fusariosis
Brain abscess, Abnormality of the spleen, Sinusitis, Productive cough, Neutropenia, Lung abscess,... ORPHA:228119
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia, Laryngotracheomalacia OMIM:271510
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... ORPHA:227990
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Eczema, Transient hypogammaglobulinemia of infancy, Decreased circula... ORPHA:3132
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Myositis, Decreased serum complement C4, Discoid l... ORPHA:93552
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Tubulointerstitial nephritis, Posterior uveitis, Normochro... ORPHA:91500
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... ORPHA:99829
Lysinuric Protein Intolerance
Recurrent bacterial infections, Tubulointerstitial nephritis, Respiratory insufficiency, Leukopen... ORPHA:470
Dubowitz Syndrome
Acute lymphoblastic leukemia, Eczema, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:223370
Marburg Hemorrhagic Fever
Pericarditis, Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, ... ORPHA:99826
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level OMIM:212065
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... ORPHA:227982
Noonan Syndrome 12
Atopic dermatitis, Thrombocytopenia, Lymphopenia OMIM:618624
Bacterial Toxic-Shock Syndrome
Sinusitis, Sepsis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating mye... ORPHA:36234
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Recurrent infections, Splenomegaly OMIM:613327
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Dyspnea, Recurrent respiratory infections ORPHA:2004
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... ORPHA:906
Congenital Analbuminemia
Increased circulating antibody level, Recurrent lower respiratory tract infections ORPHA:86816
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytope... ORPHA:88
Aapoaiv Amyloidosis
Chronic pulmonary obstruction, Paraproteinemia ORPHA:439232
Primary Biliary Cholangitis
Increased circulating IgA level, Recurrent fungal infections, Hepatitis, Onychomycosis, Increased... ORPHA:186
Hennekam Syndrome
Respiratory insufficiency, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Recur... ORPHA:2136
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An... ORPHA:508542
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Recurrent infections, S... ORPHA:84064
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Cough, Neutrophilia, Thrombocytopenia ORPHA:91547
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Gaucher Disease
Respiratory insufficiency, Pulmonary arterial hypertension, Anemia, Hepatitis, Splenomegaly, Oste... ORPHA:355
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Pneumonia, Recurrent otitis media, Autoimmune thrombocytopenia, Rheumatoid arthritis... OMIM:607944
Immunodeficiency 49
Inflammatory abnormality of the skin, Eosinophilia, Lymphopenia OMIM:617237
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Recurrent infections, Decreased proportion of CD3-positive T cells, A... ORPHA:760
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia OMIM:614204
Herpes Simplex Virus Encephalitis
Leukocytosis, Respiratory failure requiring assisted ventilation, Neutrophilia ORPHA:1930
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic de... ORPHA:83617
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Neutrophilia, Respiratory distress, Sk... OMIM:612852
Cysticercosis
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis ORPHA:1560
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... OMIM:617053
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Crackles, Leukopenia, Rhinitis, Fulminant hepatitis, Respiratory distr... ORPHA:319213
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Splenomegaly, Hepatosplenomegaly, Pulmonary embolism, Eosinophilia, Inflamma... ORPHA:3260
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Myositis, Pulmonary arterial hypertension... ORPHA:258
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Obstructive sleep apnea, Decreased circulating total IgM, Centra... ORPHA:369837
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Apl... OMIM:127550
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Necrotizing enterocoli... OMIM:619573
Primary Sclerosing Cholangitis
Hepatitis, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Uveitis, Thyroiditis, Pleural effusion... ORPHA:171
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Peritonitis, Arthritis, Splenomegaly, Erysipelas, Crohn's disease, Ne... OMIM:249100
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress, Recurrent infections OMIM:618922
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Cleft Larynx, Posterior
Aspiration OMIM:215800
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration OMIM:606070
Spermatogenic Failure 15
Aspiration OMIM:616950
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration ORPHA:600
Tay-Sachs Disease
Aspiration OMIM:272800
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Esophagitis,... ORPHA:1199
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Opitz Gbbb Syndrome, Type I
Aspiration OMIM:300000
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Oculopharyngodistal Myopathy 1
Hypercapnia, Respiratory insufficiency due to muscle weakness, Respiratory distress, Aspiration, ... OMIM:164310
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Esophagitis, Obstructive sleep apnea ORPHA:96182
Adnp Syndrome
Recurrent urinary tract infections, Respiratory distress, Recurrent upper respiratory tract infec... ORPHA:404448
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Halperin-Birk Syndrome
Aspiration OMIM:618651
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level, Recurrent infections, Respiratory fail... ORPHA:500150
Opitz Gbbb Syndrome, Type Ii
Aspiration, Pulmonary arterial hypertension OMIM:145410
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Neonatal respiratory distress, Chronic otitis media, Recurrent otitis media, A... OMIM:619503
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Obstructive sleep apnea, Pneumonia, Recurrent urinary tract infections, Aspiration, Otitis media,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Obstructive sleep apnea, Pneumonia, Recurrent urinary tract infections, Aspiration, Otitis media,... ORPHA:353277
Cushing Disease
Leukocytosis, Acne, Recurrent cutaneous fungal infections, Lymphopenia, Decreased eosinophil count ORPHA:96253

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 Ccr4

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 Ccr4.

No publications found that use IMPC mice or data for Ccr4.

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MGI Allele Allele Type Produced
Ccr4tm181453(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ccr4em1(IMPC)Ccpcz Whole-gene deletion Mice

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