Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
C-X-C motif chemokine ligand 15
Synonyms:
Il8,  lungkine,  weche,  Scyb15

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cxcl15 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 Cxcl15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... OMIM:607676
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro... OMIM:615214
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Chronic o... OMIM:616740
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... OMIM:615285
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia OMIM:193670
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... OMIM:614470
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si... OMIM:619707
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia OMIM:616873
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Cernunnos-Xlf Deficiency
Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy... ORPHA:169079
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:608184
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections OMIM:616941
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Au... ORPHA:572
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Pancytopenia, Impaired neutrophil chemotaxis, Severe varicella ... OMIM:618986
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... OMIM:229050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased... ORPHA:169154
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... ORPHA:75564
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... OMIM:612692
Immunodeficiency, Common Variable, 1
Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease... OMIM:607594
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... OMIM:601495
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Neonatal Alloimmune Neutropenia
Severe infection, Sepsis, Meningitis, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngi... OMIM:308240
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Chronic oral candidiasis, R... ORPHA:276
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Immunodeficiency 102
Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent upper respiratory tract... OMIM:301082
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymph... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Anemia, Neutropenia OMIM:617056
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent... OMIM:240500
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... ORPHA:158048
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Neutropenia ORPHA:2643
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren... ORPHA:331206
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, BCGitis, Recurrent in... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia OMIM:258360
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Sepsis, Anemia, Neutropenia ORPHA:289916
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytope... OMIM:619281
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha... ORPHA:47612
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... ORPHA:169090
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... OMIM:613179
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... OMIM:612840
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous cand... OMIM:147060
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Pgm3-Cdg
Hemolytic anemia, Recurrent respiratory infections, Abnormal proportion of CD8-positive T cells, ... ORPHA:443811
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:619752
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ... ORPHA:2686
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... OMIM:615816
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia OMIM:613496
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Neutropenia, Meningitis ORPHA:33110
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio... OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Invasive fungal infection, Increased T cell count, Recurrent mycobacterial infections, Severe vir... ORPHA:98813
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,... OMIM:308230
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Anemia, Neutropenia, Meningit... ORPHA:47
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Anemia, Coombs-positive hemolytic an... OMIM:304790
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... OMIM:612541
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Sepsis, Anemia, Leukopenia, Neutropenia, Meningitis... ORPHA:292
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Recurrent infec... OMIM:302060
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto... OMIM:618048
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... OMIM:614700
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... OMIM:608233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia OMIM:617827
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect... ORPHA:183675
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... ORPHA:167
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte... OMIM:615468
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Acute Promyelocytic Leukemia
Pancytopenia, Chronic infection, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Recurrent infections, Neutropenia OMIM:616395
Aspergillosis
Eosinophilia, Meningitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Neutropenia, I... ORPHA:1163
Poikiloderma With Neutropenia
Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Leukopenia, Recurrent s... OMIM:604173
Diamond-Blackfan Anemia 7
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... OMIM:612562
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent ... OMIM:617303
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepatosplenomegaly, Monocytos... OMIM:619644
Necrotizing Enterocolitis
Neonatal sepsis, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Recurrent infections, Neutropenia, Lymphopenia,... OMIM:242900
Sepsis In Premature Infants
Neonatal sepsis, Disseminated viral infection, Splenomegaly, Leukocytosis, Severe infection, Anem... ORPHA:90051
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, Anemia, ... OMIM:260400
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:615952
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Recurrent infections, Decreased proportion of naive CD8 T cells, Abnormal propo... ORPHA:1830
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Infectious encephalitis, Thrombocytopenia ORPHA:540
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... ORPHA:37042
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Wolcott-Rallison Syndrome
Iron deficiency anemia, Recurrent infections, Lymphocytosis, Neutropenia ORPHA:1667
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe... OMIM:617052
Methylmalonic Acidemia With Homocystinuria Type Cblf
Recurrent infections, Neutropenia, Megaloblastic anemia ORPHA:79284
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... OMIM:242840
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H... OMIM:617053
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Hermansky-Pudlak Syndrome 10
Splenomegaly, Recurrent respiratory infections, Neutropenia OMIM:617050
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Invasive fungal infection, Unusual CNS in... ORPHA:228119
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Shwachman-Diamond Syndrome 2
Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia OMIM:617941
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus... OMIM:607944
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... ORPHA:221139
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Ne... OMIM:557000
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Neutropenia OMIM:615471
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Neutropenia OMIM:618005
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Glycogen Storage Disease Ib
Splenomegaly, Recurrent bacterial infections, Neutropenia OMIM:232220
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm... ORPHA:391487
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Sepsis, Anemia, Neutropenia, Thrombocytopenia ORPHA:537
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Meningitis, Recurrent bacterial infections ORPHA:36412
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Trichothiodystrophy
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur... ORPHA:33364
Leigh Syndrome
Severe viral infection, Anemia, Neutropenia ORPHA:506
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... ORPHA:2968
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... ORPHA:163956
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Leukopenia, Recurrent ba... OMIM:300972
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukocytosis, Severe infection, Sepsis, Leukopenia ORPHA:36238
Pneumocystosis
Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count ORPHA:723
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia OMIM:615895
Adult-Onset Still Disease
Neutrophilia, Splenomegaly, Leukocytosis, Recurrent pharyngitis, Meningitis ORPHA:829
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections OMIM:248500
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227646
Cohen Syndrome
Neutropenia ORPHA:193
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Chromomycosis
Recurrent bacterial infections ORPHA:182
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Recurrent infe... ORPHA:228426
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... ORPHA:48435
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Severe infection, Anemia, Neutropenia, Hypoplastic s... ORPHA:699
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Zygomycosis
Brain abscess, Unusual skin infection, Invasive fungal infection, Neutropenia, Splenic abscess, I... ORPHA:73263
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Meningitis, Thrombocytopenia ORPHA:50918
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Recurrent infections, Chronic oral ... OMIM:260920
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, Microcytic anem... ORPHA:99843
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Recurrent infecti... ORPHA:3243
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Glycogen Storage Disease Ic
Recurrent upper respiratory tract infections, Cyclic neutropenia OMIM:232240
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Recurrent bacterial infections, Hemophagocytosis, Thrombo... ORPHA:470
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Aspartylglucosaminuria
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia OMIM:208400
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... ORPHA:171
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Sepsis, Anemia, Neutropenia ORPHA:95455
Sponastrime Dysplasia
Recurrent pneumonia, Neutropenia ORPHA:93357
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia ORPHA:642

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cxcl15

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 Cxcl15.

No publications found that use IMPC mice or data for Cxcl15.

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MGI Allele Allele Type Produced
Cxcl15tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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