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Gene: Csf3 MGI:1339751

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Gene Summary

Name:
colony stimulating factor 3 (granulocyte)
Synonyms:
MGI-IG,  Csfg,  G-CSF

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased eosinophil cell number Csf3em1(IMPC)H HOM Early adult 2.37×10-05
increased circulating alanine transaminase level Csf3em1(IMPC)H HOM   Early adult 8.40×10-05
decreased neutrophil cell number Csf3em1(IMPC)H HOM Early adult 2.43×10-10
increased hematocrit Csf3em1(IMPC)H HOM Early adult 5.67×10-05
increased lymphocyte cell number Csf3em1(IMPC)H HOM Early adult 5.68×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Csf3 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 Csf3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Adult Idiopathic Neutropenia
Lymphopenia, Helicobacter pylori infection, Recurrent fungal infections, Monocytopenia, Neutropen... ORPHA:2688
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... OMIM:614172
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag... OMIM:615214
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 32B
Recurrent infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG level, Splenome... OMIM:226990
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 46
Sepsis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, M... OMIM:616740
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve... OMIM:614470
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Decreased circulating antibody level, Recurrent fungal ... OMIM:616873
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I... OMIM:607676
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Immunodeficiency 15B
Reduced natural killer cell count, Agammaglobulinemia, Monocytosis, Recurrent infections, Decreas... OMIM:615592
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cutaneous abscess, Recurrent... OMIM:613953
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt... ORPHA:169079
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt... OMIM:619281
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit... OMIM:619220
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:607594
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopeni... OMIM:150550
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Autoimmune hemolytic anemia, Decre... OMIM:619374
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia... OMIM:615387
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia OMIM:266265
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... OMIM:608184
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurrent infe... OMIM:229050
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 18
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H... OMIM:301078
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Recurrent infections, Neutropenia OMIM:620443
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Leukemia, Lymphopenia, Recurrent infection of the ga... ORPHA:486
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... ORPHA:231154
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation OMIM:260570
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anem... ORPHA:88
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... ORPHA:331206
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Absent neutrophil specific granules, Anemia,... OMIM:617475
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Neonatal Alloimmune Neutropenia
Meningitis, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe... OMIM:620632
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Recurrent infections, Neutropenia OMIM:617056
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia, Agammaglobulinemia OMIM:619693
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C... ORPHA:98813
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired ... OMIM:618935
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... OMIM:306400
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Cutaneous absces... OMIM:243700
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Neutropenia, Recurrent lower respir... OMIM:300755
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... OMIM:603585
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Rec... OMIM:612840
Hemophagocytic Syndrome Associated With An Infection
Invasive fungal infection, Severe viral infection, Hemophagocytosis, Invasive parasitic infection... ORPHA:158048
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Sepsis, Neutropenia ORPHA:289916
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Lymph... OMIM:615816
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... OMIM:214500
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Onychotrichodysplasia And Neutropenia
Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Glutamate Formiminotransferase Deficiency
Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Chronic infection, Abnormal erythroc... ORPHA:86841
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur... ORPHA:47612
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... ORPHA:331235
Cyclic Neutropenia
Recurrent tonsillitis, Sepsis, Opportunistic infection, Lymphopenia, Cyclic neutropenia, Perianal... ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Omenn Syndrome
Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hypoplasia of the thymus, Eos... OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... OMIM:301110
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Pelger-Huet Anomaly
Giant platelets, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutropenia, Thro... OMIM:169400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Severe in... OMIM:304790
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Autosomal Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Meningitis, Recurrent ... ORPHA:33110
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... OMIM:116920
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T cell functio... OMIM:613179
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Severe varicella zoster infection, Recurren... OMIM:606367
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Severe viral infection, Hemophagocytosis, Hepatosplenomegaly, BCGosis, Monoc... OMIM:619644
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R... OMIM:614700
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Re... OMIM:307200
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio... OMIM:618116
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a... OMIM:620565
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... ORPHA:169090
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Agammaglobulinemia, Neutropenia, Thrombocytopenia, Anemia, Meningiti... ORPHA:47
Immunodeficiency 12
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... OMIM:615468
Chédiak-Higashi Syndrome
Recurrent streptococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Recur... ORPHA:167
Reticular Dysgenesis
Sepsis, Abnormality of neutrophils, Leukopenia, Anemia, Recurrent respiratory infections, Decreas... ORPHA:33355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Severe B lymphocytopenia, Chronic mucocutaneous ... OMIM:102700
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Congenital Enterovirus Infection
Sepsis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Infectious encephalitis, Neutro... ORPHA:292
Immunodeficiency 55
Lymphopenia, Recurrent infections, Absent natural killer cells, Neutropenia OMIM:617827
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... OMIM:612541
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Recurre... OMIM:608233
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Th... OMIM:614857
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hyperhomocystinemia, Ne... OMIM:275350
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Hypomethioninemia OMIM:250940
Acute Promyelocytic Leukemia
Chronic infection, Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Barth Syndrome
Recurrent infections in infancy and early childhood, Cyclic neutropenia, Recurrent bronchitis, Hy... OMIM:302060
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
Methylmalonic Aciduria, Cblb Type
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Hyperammone... OMIM:251110
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni... ORPHA:508542
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Recurrent infections, Increased circulating IgA level, Neutropenia OMIM:616395
Aspergillosis
Unusual CNS infection, Increased circulating IgE level, Invasive pulmonary aspergillosis, Infecti... ORPHA:1163
Propionic Acidemia
Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ... ORPHA:436159
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Decreased circulating antibody ... OMIM:615952
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Whim Syndrome
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Abnormal neutrophil mo... ORPHA:51636
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Recurrent upper respiratory tract infections, Rec... ORPHA:183675
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... ORPHA:1667
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production OMIM:614900
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Methylmalonic acidemia OMIM:251000
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Neutr... OMIM:604173
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Aplastic anemia, Seps... ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop... OMIM:613989
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Macrocytic anemia, Neutropenia, Recurr... OMIM:612562
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:3226
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Anemia, Neutr... OMIM:617303
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:540
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Cartilage-Hair Hypoplasia
Lymphopenia, Susceptibility to chickenpox, Macrocytic anemia, Impaired lymphocyte transformation ... OMIM:250250
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia... OMIM:242900
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Highly elevat... OMIM:251900
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Methylmalon... OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Megaloblas... OMIM:277380
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Neutropenia OMIM:618253
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Sepsis In Premature Infants
Invasive fungal infection, Leukocytosis, Splenomegaly, Severe infection, Neutropenia, Thrombocyto... ORPHA:90051
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Methylmalonic Acidemia With Homocystinuria Type Cblf
Recurrent infections, Megaloblastic anemia, Neutropenia ORPHA:79284
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... ORPHA:1830
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Liver... ORPHA:54251
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, Thrombocytopenia, Neutropenia, Recurrent infections OMIM:616271
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Splenomegaly, Neutropenia OMIM:617050
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Necrotizing Enterocolitis
Neonatal sepsis, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Anemia, Thrombocytopenia, Re... OMIM:617053
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R... ORPHA:221139
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro... OMIM:613990
Shwachman-Diamond Syndrome 2
Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia OMIM:617941
Fusariosis
Unusual CNS infection, Invasive fungal infection, Brain abscess, Granuloma, Abnormality of the sp... ORPHA:228119
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Recurrent respiratory infections, Increased circulating IgE level, Autoimmune hemolytic a... ORPHA:37042
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Wiskott-Aldrich Syndrome
Acute leukemia, Sepsis, Abnormal eosinophil morphology, Microcytic anemia, Lymphopenia, Chronic l... ORPHA:906
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymphocytopenia, Neutropenia, Recurre... OMIM:607944
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia OMIM:614204
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Neutropenia OMIM:618005
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Pneumocystosis
Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Increased circulating antibody level... ORPHA:723
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia ORPHA:1302
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Neutropenia OMIM:615471
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... OMIM:227645
Staphylococcal Necrotizing Pneumonia
Sepsis, Leukopenia, Leukocytosis, Severe infection, Neutrophilia ORPHA:36238
Glycogen Storage Disease Ib
Recurrent bacterial infections, Splenomegaly, Neutropenia OMIM:232220
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Revesz Syndrome
Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia OMIM:268130
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote... OMIM:617099
Toxic Epidermal Necrolysis
Sepsis, Thrombocytopenia, Neutropenia, Anemia, Recurrent respiratory infections ORPHA:537
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidi... ORPHA:391487
Hyper-Igd Syndrome
Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA ... OMIM:260920
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic an... OMIM:619573
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Thrombocytopenia,... OMIM:277400
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Anemia, Leukocytosis, Splenomegaly OMIM:615895
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Anemia, Neutropeni... ORPHA:33364
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... OMIM:227646
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Recurrent ear infections, Recurrent cutaneous abscess formation... ORPHA:163956
Leigh Syndrome
Anemia, Severe viral infection, Neutropenia ORPHA:506
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Megal... ORPHA:79282
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibo... ORPHA:228426
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Elevated circulating C-reactive protein concentration, N... ORPHA:50918
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... ORPHA:829
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Neutropenia OMIM:618460
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Cohen Syndrome
Neutropenia ORPHA:193
Pearson Syndrome
Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hypophosp... ORPHA:699
Rothmund-Thomson Syndrome
Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia ORPHA:2909
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... ORPHA:244
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ... ORPHA:3243
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia ORPHA:221008
Cartilage-Hair Hypoplasia
Anemia, Hypocalcemia, Neutropenia ORPHA:175
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia OMIM:612852
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... OMIM:617718
Glycogen Storage Disease Ic
Cyclic neutropenia, Recurrent upper respiratory tract infections OMIM:232240
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia ORPHA:221016
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Microcytic anemi... ORPHA:99843
Zygomycosis
Unusual skin infection, Invasive fungal infection, Brain abscess, Infectious encephalitis, Spleni... ORPHA:73263
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia, Chronic neutropenia ORPHA:79259
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated ci... ORPHA:91500
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibody level, Anemia, T... ORPHA:470
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ... OMIM:249100
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Chromomycosis
Recurrent bacterial infections ORPHA:182
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Aspartylglucosaminuria
Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia OMIM:208400
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Sepsis, Neutropenia ORPHA:95455
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level, Neutropenia ORPHA:93357
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomegaly, Hypoc... OMIM:619991
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... ORPHA:99829
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess ORPHA:642
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

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 Csf3

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 Csf3.

No publications found that use IMPC mice or data for Csf3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Csf3em2(IMPC)H Indel Mice
Csf3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Csf3em1(IMPC)H Indel Mice

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