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Gene: Clec4e MGI:1861232

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clec4e mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Clec4e by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunodeficiency 24
Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio, Severe varicella zoster infecti... OMIM:615897
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:613502
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Chro... OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... OMIM:609529
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... OMIM:615285
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Secundum atrial septal defect, Recurrent... OMIM:614868
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Recurrent viral infections, Increased circulating IgA level, Autoi... ORPHA:169154
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Immunodeficiency 62
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... OMIM:618459
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... OMIM:137100
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... OMIM:613495
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... ORPHA:572
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... OMIM:601859
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... ORPHA:275
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... OMIM:301078
Immunodeficiency 44
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... OMIM:616636
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Recurrent opportunistic infections... ORPHA:277
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurr... OMIM:240500
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... OMIM:229050
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig... ORPHA:2643
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... OMIM:618987
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Increased circula... OMIM:619752
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... OMIM:615387
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Recu... OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent candida infection... ORPHA:169160
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increase... ORPHA:98813
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... ORPHA:178320
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... OMIM:615559
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... OMIM:618394
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Abnormal heart morphology DECIPHER:16
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Anemia, Neutropenia OMIM:604250
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recu... OMIM:300635
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiect... OMIM:616005
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Invasive fungal in... ORPHA:158048
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... OMIM:243700
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... ORPHA:70578
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Selective Igm Deficiency
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... ORPHA:331235
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Pericarditis, Recurrent pha... ORPHA:47612
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Recurrent viral upper respiratory ... OMIM:615577
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... ORPHA:158057
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis OMIM:216950
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ... OMIM:614069
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent b... OMIM:619164
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating tota... OMIM:619510
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow hypocellular... ORPHA:88
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Ventricular se... OMIM:620210
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Recurrent i... OMIM:613652
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circulating C-react... OMIM:613011
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio... OMIM:615758
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurre... ORPHA:444463
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,... OMIM:615816
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Meningitis, Sepsis ORPHA:464370
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Activated Pi3K-Delta Syndrome
Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, B... OMIM:601457
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... OMIM:617744
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... ORPHA:544482
Barth Syndrome
Cyclic neutropenia, Dilated cardiomyopathy, Neutropenia, Hypochromic microcytic anemia, Granulocy... OMIM:302060
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia, ... ORPHA:33110
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level OMIM:300636
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia, Recurrent infections OMIM:617056
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Sepsis, Cholecystitis, Decreased circulating IgG l... ORPHA:183675
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Meningitis, Myocarditis, Leukocytosis, Thro... ORPHA:292
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Periana... OMIM:612541
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... OMIM:614700
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Antiphospholipid antibody positivity, Rheumatoid fact... OMIM:615934
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... OMIM:600802
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Sepsis, Anemia, Neutropenia ORPHA:289916
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ... ORPHA:2686
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Pure r... OMIM:613179
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Agammaglobu... ORPHA:47
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe infection, Increased circulat... OMIM:304790
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepatosplenomegaly, Monocytos... OMIM:619644
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... OMIM:608233
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Dilated cardiomy... ORPHA:398124
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Whim Syndrome
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal ... ORPHA:51636
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Recurrent infections... OMIM:612562
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Neutropenia, Chronic neutropenia, Recurrent infections OMIM:258360
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Thrombocytopenia, Recurrent upper respiratory tract infections, Ret... ORPHA:508542
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Thrombocytopenia, Recurr... OMIM:617303
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... OMIM:618116
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level, Recurrent infections OMIM:616395
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... ORPHA:2137
Vici Syndrome
Recurrent respiratory infections, Lymphopenia, Left ventricular hypertrophy, Recurrent viral infe... OMIM:242840
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, Severe cytomega... OMIM:619313
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... ORPHA:329918
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Necrotizing Enterocolitis
Neonatal sepsis, Leukocytosis, Abnormal heart morphology, Neutropenia, Thrombocytopenia ORPHA:391673
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, N... OMIM:613989
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Recurrent infections OMIM:617827
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... OMIM:242900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Recurrent upper r... OMIM:615952
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti... ORPHA:167
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Propionic Acidemia
Pancytopenia, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia OMIM:606054
Aspergillosis
Eosinophilia, Increased circulating IgE level, Unusual CNS infection, Invasive pulmonary aspergil... ORPHA:1163
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Abnormal heart morphology, Neutropenia, Recurrent infections ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Recurrent infections, Neutrop... OMIM:277380
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:602450
Wolcott-Rallison Syndrome
Recurrent infections, Iron deficiency anemia, Lymphocytosis, Neutropenia, Atrial septal defect, D... ORPHA:1667
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Sepsis, Abnormal blood ion concentration, ... ORPHA:37042
Cohen Syndrome
Leukopenia, Neutropenia, Mitral valve prolapse OMIM:216550
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Bone marrow hypocellularity, Neutropenia, Atrial septal defect, Patent... OMIM:609053
Acute Promyelocytic Leukemia
Pancytopenia, Chronic infection, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Anemia ORPHA:520
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Thrombocytopenia, Recurrent infections, Decreased proportion of naive C... ORPHA:1830
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... ORPHA:542323
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Recurrent infections... OMIM:260400
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Inflammation of the ... OMIM:301000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Noonan Syndrome 12
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Thrombocytopenia OMIM:618624
Poikiloderma With Neutropenia
Recurrent bronchopulmonary infections, Splenomegaly, Recurrent pneumonia, Leukopenia, Recurrent s... OMIM:604173
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... ORPHA:90051
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... OMIM:618935
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte physiology, A... ORPHA:99867
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level, Decreased circulating total I... ORPHA:90362
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... ORPHA:221139
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Increased circulating IgG level, Increased circulating IgM le... ORPHA:83313
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Recurrent lower respiratory tract infections, Neutropenia OMIM:618005
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Autoimmune hemolytic anemia, Autoimmune throm... ORPHA:391487
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe... OMIM:617052
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... OMIM:242860
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Myocarditis, Recurrent pharyngitis, Leukocytosis, Splenomegaly, Bone ... ORPHA:829
Fusariosis
Brain abscess, Lung abscess, Invasive fungal infection, Abnormality of the spleen, Unusual CNS in... ORPHA:228119
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... ORPHA:2268
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Neutropenia, Recurrent infections OMIM:615471
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocel... OMIM:227645
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus... OMIM:607944
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hermansky-Pudlak Syndrome 10
Splenomegaly, Recurrent respiratory infections, Neutropenia OMIM:617050
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... ORPHA:760
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Ventricular septal defec... ORPHA:163956
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Decreased prealbumin level, Reduced circulating t... ORPHA:90363
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Neutropenia, Abnormal myocardium morp... ORPHA:537
Shwachman-Diamond Syndrome 2
Normocytic anemia, Neutropenia, Thrombocytopenia, Recurrent infections OMIM:617941
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Decreased circulating coppe... OMIM:300972
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Elevated circulati... OMIM:208900
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Pneumocystosis
Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Increased circulating antibody level... ORPHA:723
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Trichothiodystrophy
Ventricular septal defect, Recurrent bronchopulmonary infections, Increased mean corpuscular hemo... ORPHA:33364
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Autoimmunity, Hypersplenism, Splenomegaly, Hepati... OMIM:613385
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Fanconi Anemia, Complementation Group D2
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Bone marrow hypocel... OMIM:227646
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Ne... OMIM:557000
Macrocephaly/Autism Syndrome
Splenomegaly, Decreased circulating antibody level, Recurrent infections, Recurrent otitis media,... OMIM:605309
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... OMIM:620040
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Cohen Syndrome
Neutropenia, Ventricular septal defect, Mitral valve prolapse ORPHA:193
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Autoimmunity, Decreased circulating compleme... ORPHA:2298
Legionnaires Disease
Pericarditis, Myocarditis, Recurrent pharyngitis, Splenomegaly, Sepsis, Endocarditis, Bone marrow... ORPHA:549
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Leigh Syndrome
Ventricular septal defect, Severe viral infection, Neutropenia, Hypertrophic cardiomyopathy, Anemia ORPHA:506
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Khan-Khan-Katsanis Syndrome
Lymphopenia, Patent foramen ovale, Anemia, Neutropenia OMIM:618460
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Conjugated hyperbilirubinemia, Antinuclear antibod... ORPHA:186
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Cardiomyopathy, Abnormal cardiac septum morphology, Neutrop... ORPHA:175
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Cholangitis, Increased circulating ... ORPHA:449432
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Recurrent infections, ... OMIM:260920
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Pearson Syndrome
Reticulocytosis, Pancytopenia, Thrombocytopenia, Severe infection, Splenomegaly, Abnormal heart m... ORPHA:699
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Recurrent infections, Anemia, Increased circulating antibody level, Lymphopenia, Th... OMIM:617591
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... OMIM:614162
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic seizures, Decrea... OMIM:612301
Glycogen Storage Disease Ib
Splenomegaly, Recurrent bacterial infections, Neutropenia OMIM:232220
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recu... ORPHA:420741
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Dilated cardiomyopathy, Abnormal heart morphology, Neutropenia, Thrombocyto... ORPHA:79282
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... OMIM:607143
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukocytosis, Severe infection, Sepsis, Leukopenia ORPHA:36238
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia ORPHA:935
Kikuchi-Fujimoto Disease
Myocarditis, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Meningitis, ... ORPHA:50918
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia, Recurrent infections OMIM:617425
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Decreased circulating antibody ... OMIM:615688
Zygomycosis
Brain abscess, Pericarditis, Unusual skin infection, Invasive fungal infection, Myocarditis, Endo... ORPHA:73263
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, De... ORPHA:1572
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Hermansky-Pudlak Syndrome
Cardiomyopathy, Neutropenia ORPHA:79430
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Bloom Syndrome
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash... OMIM:210900
Syndromic Diarrhea
Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp... ORPHA:84064
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Hypocalcemia, Recurrent aphthous ... OMIM:212750
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent... OMIM:613327
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu... OMIM:617053
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le... ORPHA:297
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... ORPHA:2306
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... ORPHA:228426
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Neutrophilia, Microcytic anem... ORPHA:99843
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormality of cytokine secretion, A... ORPHA:567983
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ... OMIM:620005
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Rift Valley Fever
Skin rash, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, Increased circulating IgM... ORPHA:319251
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Decreased circulating IgG lev... OMIM:212065
Dubowitz Syndrome
Aplastic anemia, Eczema, Recurrent infections, Acute lymphoblastic leukemia, Otitis media, Hypoch... OMIM:223370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Abscess, Eosinophilia, Pneumonia, Erythema nodosum, Abnor... ORPHA:228123
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Bone marrow hyp... OMIM:127550
Glycogen Storage Disease Ic
Recurrent upper respiratory tract infections, Cyclic neutropenia OMIM:232240
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449563
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Meningitis OMIM:249100
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Decreased circulating total IgM, Eczema OMIM:618162
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Aspartylglucosaminuria
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia OMIM:208400
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Parotitis, Elevated circulating creatine kinase concentration, Acute ... ORPHA:99827
Sponastrime Dysplasia
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level ORPHA:93357
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Hypertriglyceridemia, Hypercalcemia, Decreased circulating IgA l... ORPHA:369837
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Sepsis, Anemia, Neutropenia ORPHA:95455
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... ORPHA:83617
Viss Syndrome
Chronic gastritis, Eczema, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis,... OMIM:619472

Histopathology

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

There is no histopathology data for Clec4e

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clec4e.

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

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

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