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Gene: Clec4e MGI:1861232

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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:
C-type lectin domain family 4, member e
Synonyms:
Clecsf9,  Mincle

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 Clec4e 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 Clec4e by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections, Neutropenia OMIM:615214
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... OMIM:300988
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Severe varicella zoster infection, Defective T ce... OMIM:615897
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Sepsis, Severe varicella zoster infection, Neutropenia, Leukopenia, Partial ab... OMIM:618986
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... OMIM:606843
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
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 19
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia OMIM:615617
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Increased circulating ant... OMIM:614470
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:609529
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Immunodeficiency 40
Lymphopenia OMIM:616433
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... OMIM:601495
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Recurrent viral infections, Recurrent infections, I... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Decreased circulating IgG level, Decreased circulating anti... OMIM:308240
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral he... OMIM:619220
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne... ORPHA:572
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... OMIM:618534
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Neutropenia, Elevated circulating C-reactive p... ORPHA:158061
Immunodeficiency 20
BCGitis, Severe varicella zoster infection, Recurrent viral upper respiratory tract infections, R... OMIM:615707
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased... OMIM:618495
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... OMIM:607676
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Recurre... OMIM:209920
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Recurrent infections OMIM:616271
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Autoimmunity, Anti-thyroid pe... ORPHA:277
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Agammaglobulinemia, Recurrent p... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Chronic oral candidiasis, Recurr... OMIM:150550
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... ORPHA:75564
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Recurrent infections in infancy and early ch... OMIM:302060
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Autoimmunity, Impaired T cell function, Decreased circulating IgA... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive sec... ORPHA:169160
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... ORPHA:2643
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lo... ORPHA:331206
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Erythroid hypoplasia, Atrial septal defect, Reticulocytopenia OMIM:612527
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive ... OMIM:615559
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Decreas... OMIM:616100
Immunodeficiency 55
Neutropenia, Recurrent infections OMIM:617827
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Increased circu... ORPHA:178320
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Decreased circulating antibody level, Recurrent infections, Re... OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... OMIM:251190
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:308230
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Hemochromatosis, Type 3
Anemia, Cardiomyopathy, Neutropenia, Lymphopenia OMIM:604250
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... OMIM:612541
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurre... OMIM:616576
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l... OMIM:615577
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutro... ORPHA:540
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... OMIM:300635
Hemophagocytic Syndrome Associated With An Infection
Chronic active Epstein-Barr virus infection, Abnormal cytokine signaling, Neutropenia, Anemia, Sp... ORPHA:158048
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Autoimmunity, Decreased circulating antibody level, Re... OMIM:617780
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Selective Igm Deficiency
Sepsis, Autoimmunity, Non-infectious meningitis, Recurrent herpes, Neutropenia in presence of ant... ORPHA:331235
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... ORPHA:90280
Felty Syndrome
Sepsis, Neutropenia, Pericarditis, Abnormal lymphocyte morphology, Anemia, Recurrent infections, ... ORPHA:47612
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal serum interleukin ... ORPHA:70578
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Recurrent infections, Bone marrow hypocellularity, Reticulocytopenia, Pancyt... ORPHA:88
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... OMIM:229050
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... OMIM:209950
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, I... ORPHA:3243
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... ORPHA:411593
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency OMIM:216950
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Decreased serum complement fact... OMIM:613652
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Autoimmunity, Recurrent herp... ORPHA:183675
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia, Abnormal cardiac septum morphology OMIM:618067
Immunodeficiency 76
B lymphocytopenia, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolitis, T lym... OMIM:619164
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... ORPHA:231154
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
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Neutropenia, Anemia, Bone marrow hypocellularity, Anemia of inadequate pro... OMIM:614900
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, E... ORPHA:101096
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis OMIM:604173
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia,... ORPHA:444463
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreas... OMIM:616005
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Pelger-Huet Anomaly
Ventricular septal defect, Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nu... OMIM:169400
Lymphoproliferative Syndrome 1
Autoimmunity, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating anti... OMIM:613011
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency 23
Severe varicella zoster infection, Neutropenia, Abscess, Increased circulating IgG level, Chronic... OMIM:615816
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Sepsis, Neutropenia, Pericardial effusion, Leukopenia, Infectious ence... ORPHA:292
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Recurrent infections OMIM:617056
Autosomal Agammaglobulinemia
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent infections, Meningitis, Recurrent respiratory ... ORPHA:33110
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Myocarditis, Increased circulating interleukin 6, Hyponatremia, Hype... ORPHA:544482
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... OMIM:614700
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Recurrent infecti... OMIM:615934
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... ORPHA:217390
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
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma,... OMIM:606367
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Sepsis, Neutropenia ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Cardiomyopathy, Splenomegaly, Thrombocytopenia ORPHA:79312
Epidermodysplasia Verruciformis, Susceptibility To, 5
Cryptococcal meningitis, Persistent human papillomavirus infection, T lymphocytopenia, Lymphopenia OMIM:618309
Cyclic Neutropenia
Sepsis, Opportunistic infection, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent ton... ORPHA:2686
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... OMIM:178610
X-Linked Agammaglobulinemia
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Anemia, Meningiti... ORPHA:47
Reticular Dysgenesis
Sepsis, Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash... ORPHA:33355
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Immunodeficiency 91 And Hyperinflammation
BCGosis, Monocytosis, Recurrent lower respiratory tract infections, Neutrophilia, Hepatosplenomeg... OMIM:619644
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Chronic oral candi... OMIM:608233
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... OMIM:304790
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... OMIM:242900
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Abnormal heart morphology, Anemia, Splenom... ORPHA:398124
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly OMIM:605309
Whim Syndrome
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Mening... ORPHA:51636
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia, Recurrent infections OMIM:608809
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infectio... OMIM:617303
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, C... ORPHA:449400
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia, Recurrent infections OMIM:258360
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... OMIM:618116
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... OMIM:614878
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Bone marrow hyp... ORPHA:508542
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Neutropenia, Increased mean corpuscular volume, Rec... OMIM:612562
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Atrial septal defect, Neutropenia OMIM:614857
Lymphoproliferative Syndrome 2
Sepsis, Decreased circulating antibody level, Recurrent infections, Decreased lymphocyte prolifer... OMIM:615122
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating antibody le... ORPHA:2442
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Decreased serum complement C4, Elevated circulating... ORPHA:329918
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ... ORPHA:2137
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Autoimmunity, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Ir... ORPHA:85436
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Abnormal heart morphology, Neonatal sepsis, Thrombocytopenia ORPHA:391673
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Oligoarthritis, Knee osteoarthritis, Uveitis, Rheu... ORPHA:85410
Holoprosencephaly, Recurrent Infections, And Monocytosis
Recurrent infections, Monocytosis OMIM:610680
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
Neonatal Alloimmune Neutropenia
Sepsis, Severe infection, Meningitis, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Immunodeficiency 31C
Recurrent respiratory infections, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemo... OMIM:614162
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Sepsis, Recurrent bacterial infections, Neutropenia, Norm... ORPHA:811
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Thrombocyto... ORPHA:167
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... OMIM:615952
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Megaloblastic anemia, Neutropenia, Recurrent infections ORPHA:79284
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymph... ORPHA:229717
Aspergillosis
Infectious encephalitis, Neutropenia, Invasive pulmonary aspergillosis, Increased circulating IgE... ORPHA:1163
Retinal Venous Beading
Neutropenia OMIM:180080
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Cohen Syndrome
Mitral valve prolapse, Neutropenia, Leukopenia OMIM:216550
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Neutropenia, Bone marrow hypocellularity, Atrial septal defect, Patent... OMIM:609053
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Sepsis, Eczema, Autoimmunity, Neutropenia, Tubuloint... ORPHA:37042
Thymic Aplasia
Sinusitis, Sepsis, Autoimmunity, Chronic otitis media, Recurrent infections, Recurrent candida in... ORPHA:83471
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l... OMIM:301000
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Propionic Acidemia
Neutropenia, Anemia, Cardiomyopathy, Pancytopenia, Thrombocytopenia OMIM:606054
Wolcott-Rallison Syndrome
Neutropenia, Iron deficiency anemia, Double outlet right ventricle, Recurrent infections, Lymphoc... ORPHA:1667
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Acute Promyelocytic Leukemia
Leukocytosis, Chronic infection, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, M... OMIM:260400
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Anemia, Recurre... ORPHA:1830
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia, Cardiomyopathy, Bone marrow hypocellularity ORPHA:445038
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Anti-acetylchol... ORPHA:99867
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:614520
Noonan Syndrome 12
Thrombocytopenia, Ventricular septal defect, Tetralogy of Fallot, Lymphopenia OMIM:618624
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... ORPHA:542323
Sepsis In Premature Infants
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegaly, Disseminate... ORPHA:90051
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... OMIM:618935
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Abnormal heart morphology, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:600901
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Intraalveolar phospholipi... OMIM:618042
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Psoriasiform dermatitis, Decreased circulating... ORPHA:221139
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... ORPHA:90362
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Neutropenia, Recurrent infections OMIM:615471
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Abnormal heart morphology, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227650
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... OMIM:307200
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... OMIM:242860
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia,... ORPHA:829
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Ataxia-Telangiectasia
Sinusitis, Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell diff... OMIM:208900
Icf Syndrome
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... ORPHA:2268
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Recurrent otitis media, Autoimmune thrombocytopenia, Lymphopenia, Recurrent respirat... OMIM:607944
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Onychomycosis, Lymphopenia, ... ORPHA:228119
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Autoimmunity, Decreased circulating total IgA, Anti-dsDNA antibo... ORPHA:1929
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Neutropenia, Splenomegaly OMIM:617050
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocy... OMIM:227645
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Infectious encephalitis, Recurrent herpes, Neutropenia in presence of anti-neu... ORPHA:391487
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level, Hypereosinophilia... ORPHA:2902
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Recurrent infections, Decreased proportion of CD3-positive T cells, A... ORPHA:760
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Ataxia-Telangiectasia
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia ORPHA:100
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia, Recurrent infections OMIM:617941
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Neutropenia, Recurrent ear infections, Recurrent cutaneous abscess for... ORPHA:163956
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Anemia, Recurrent infections, Acute myeloid leukemia, Atrial septal defect OMIM:601347
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277380
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Abnormal cardiac septum morphology OMIM:618005
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Autoimmunity, Decreased prealbumin level, Decreased circulating IgA le... ORPHA:90363
Wiskott-Aldrich Syndrome
Sepsis, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chroni... ORPHA:906
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... OMIM:602668
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... ORPHA:227990
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Blackfan-Diamond Anemia
Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase level, Neutropen... ORPHA:124
Toxic Epidermal Necrolysis
Sepsis, Neutropenia, Anemia, Recurrent respiratory infections, Thrombocytopenia, Abnormal myocard... ORPHA:537
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Trichothiodystrophy
Ventricular septal defect, Neutropenia, Recurrent bronchopulmonary infections, Anemia, Cardiomyop... ORPHA:33364
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... OMIM:300972
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmunity, Tubulointerstitial nephritis, Leukop... ORPHA:227982
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Recurrent herpes, Pneu... ORPHA:125
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Autoimmunity, Pneumonia, Chronic otitis media, Recurrent ... ORPHA:169090
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Monoclonal immunoglobulin M proteinemi... ORPHA:91139
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level, Chronic oral candidiasis, Pneumo... ORPHA:723
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Abnormal heart morphology, Anemia, Bone marrow hypocellularity, Reticulocy... OMIM:227646
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Recur... OMIM:210900
Popov-Chang syndrome
Recurrent otitis media, Decreased circulating antibody level, Lymphopenia, Pulmonic stenosis OMIM:618428
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Decreased circulating IgA level, Hepatitis, Splenomegaly, Hypersplenism, Pancytopen... OMIM:613385
Legionnaires Disease
Myocarditis, Sepsis, Pericarditis, Infectious encephalitis, Endocarditis, Bone marrow hypocellula... ORPHA:549
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decreas... OMIM:619381
Insulin-Resistance Syndrome Type B
Autoimmunity, Leukopenia, Pneumonia, Increased circulating IgA level, Abnormal circulating lipid ... ORPHA:2298
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Rheumatoid factor positive, Eosinophilia, Elevated circulating C-re... ORPHA:449395
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections, Panniculitis, Decreased proportion of CD4-positiv... OMIM:615758
Brucellosis
Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Splenomegaly, Hyp... ORPHA:1304
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Neutropenia, Anemia, Severe viral infection ORPHA:506
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Recurrent fungal infections, Abnormal circulating ... ORPHA:186
Cohen Syndrome
Ventricular septal defect, Neutropenia, Mitral valve prolapse ORPHA:193
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Diamond-Blackfan Anemia 1
Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase level, Neutropen... OMIM:105650
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent infections, Sp... OMIM:260920
Gamma-Heavy Chain Disease
Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:100026
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Cartilage-Hair Hypoplasia
Neutropenia, Decreased circulating antibody level, Anemia, Cardiomyopathy, Abnormal cardiac septu... ORPHA:175
Pearson Syndrome
Neutropenia, Abnormal heart morphology, Anemia, Cardiomyopathy, Bone marrow hypocellularity, Sple... ORPHA:699
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level, Lymphopenia, Th... OMIM:617591
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... ORPHA:64744
Glycogen Storage Disease Ib
Recurrent bacterial infections, Neutropenia OMIM:232220
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Igg4-Related Submandibular Gland Disease
Cholangitis, Autoimmunity, Prostatitis, Increased circulating IgG4 level, Increased circulating I... ORPHA:449432
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymphopenia OMIM:617425
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, ... OMIM:612301
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Neutropenia, Abnormal heart morphology, Megaloblastic anemia, Thrombocyto... ORPHA:79282
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infe... ORPHA:420741
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Leukopenia, Decreased circulating antibody ... OMIM:615688
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Sepsis, Leukopenia, Neutrophilia, Severe infection ORPHA:36238
Kikuchi-Fujimoto Disease
Myocarditis, Neutropenia, Leukopenia, Anemia, Splenomegaly, Meningitis, Lymphocytosis, Thrombocyt... ORPHA:50918
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Sepsis, Recurrent bacterial infections, Biventricular hypertrophy, Atriov... OMIM:619573
Common Variable Immunodeficiency
Recurrent bronchitis, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytop... ORPHA:1572
Hermansky-Pudlak Syndrome
Neutropenia, Cardiomyopathy ORPHA:79430
Zygomycosis
Brain abscess, Myocarditis, Splenic abscess, Pericarditis, Neutropenia, Endocarditis, Infectious ... ORPHA:73263
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Ventricular septal defect, Mitral valve prolapse, Transient neutropenia, Abn... ORPHA:500095
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Syndromic Diarrhea
Thrombocytosis, Bicuspid aortic valve, Increased mean platelet volume, Ventricular septal defect,... ORPHA:84064
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine... ORPHA:29073
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Elevated circulating creatine kinase concentration, Recurrent in... OMIM:613327
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8, Splenomegaly, Parotitis, Elevated circulating C-reactive pro... OMIM:256040
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Elevated alpha-fetoprotein, Leukemia OMIM:208910
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, Hypersplenism, Hepato... ORPHA:228426
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... OMIM:617053
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Leukocytosis, Chronic lymphocytic meningitis, Recurrent otitis m... ORPHA:99843
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Eczema, Macrocytic anemia, Stomatitis, Decreased circulating IgA level, Iron defi... OMIM:212750
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:2909
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgA level, Hypocholesterolemia, Decreased circulating IgG l... OMIM:212065
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:221008
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Avian Influenza
Sepsis, Infectious encephalitis, Leukopenia, Meningitis, Lymphopenia, Thrombocytopenia ORPHA:454836
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Abnormality of cytokine secretion,... ORPHA:567983
Dubowitz Syndrome
Acute lymphoblastic leukemia, Eczema, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:223370
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:221016
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... ORPHA:79078
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... ORPHA:449427
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Rift Valley Fever
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Uveitis, Increased c... ORPHA:319251
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia ORPHA:79259
Cowden Syndrome 1
Decreased circulating antibody level, Recurrent infections, Lymphopenia OMIM:158350
Coccidioidomycosis
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Abscess, Panniculi... ORPHA:228123
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... ORPHA:449563
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Splenomegaly, Neutrophilia, Meningitis OMIM:249100
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Leukopenia, Severe viral infection, Lymphopenia, Thrombocytopenia ORPHA:319213
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level, Neutropenia ORPHA:93357
Aspartylglucosaminuria
Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia OMIM:208400
Crimean-Congo Hemorrhagic Fever
Myocarditis, Leukocytosis, Leukopenia, Elevated circulating creatine kinase concentration, Epidid... ORPHA:99827
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Anemia, Lymphopenia OMIM:616541
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Hypercalcemia, Hypertriglyceridemia, Decreased circulating total... ORPHA:369837
Hennekam Syndrome
Pericardial effusion, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Recurrent ... ORPHA:2136
Marburg Hemorrhagic Fever
Pericarditis, Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, ... ORPHA:99826
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Tubulointerstitial nephritis, Posterior uveitis, Normochro... ORPHA:91500
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Myocardial eosinophilic infiltration, Anemi... ORPHA:3260
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Sepsis, Neutropenia ORPHA:95455
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased circulating antibody level, Meningi... ORPHA:289390
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic de... ORPHA:83617
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Opportunistic infection, Neutrophilia, Increas... ORPHA:99829
Cushing Disease
Leukocytosis, Recurrent cutaneous fungal infections, Lymphopenia, Decreased eosinophil count ORPHA:96253
Charge Syndrome
Ventricular septal defect, Dysplastic tricuspid valve, Double outlet right ventricle, Pulmonic st... OMIM:214800
Viss Syndrome
Atopic dermatitis, Eczema, Decreased circulating IgA level, Increased circulating IgG level, Chro... OMIM:619472

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 Clec4e

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 Clec4e.

No publications found that use IMPC mice or data for Clec4e.

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MGI Allele Allele Type Produced
Clec4etm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Clec4etm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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