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Gene: Itgae MGI:1298377

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Gene Summary

Name:
integrin alpha E, epithelial-associated
Synonyms:
CD103,  alpha-E1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased large unstained cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 3.30×10-06
decreased neutrophil cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 1.98×10-07
decreased leukocyte cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 2.59×10-09
decreased lean body mass Itgaetm1b(EUCOMM)Wtsi HOM Early adult 2.14×10-07
decreased monocyte cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 3.74×10-06
decreased lymphocyte cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 7.50×10-08

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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Human diseases caused by Itgae 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 Itgae by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Failure to thrive, Extramedullary hematopoiesis, Thrombocytopenia, Neutropeni... OMIM:615285
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... OMIM:226990
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Folate Malabsorption, Hereditary
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Immunodeficiency 46
Failure to thrive, Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia OMIM:616871
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... ORPHA:98826
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Acute Erythroid Leukemia
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia ORPHA:318
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Whim Syndrome 1
Neutropenia OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... ORPHA:444463
Immunodeficiency 95
Lymphopenia OMIM:619773
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Failure to thrive, Neutropenia, Splenomegaly OMIM:615387
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... OMIM:615513
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly... OMIM:619220
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:617475
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ... OMIM:301078
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... OMIM:169400
Griscelli Syndrome Type 2
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia ORPHA:79477
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... ORPHA:35858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD2... ORPHA:98850
Immunodeficiency 44
Lymphopenia OMIM:616636
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune... ORPHA:572
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Diamond-Blackfan Anemia 11
Anemia, Anemia of inadequate production, Neutropenia OMIM:614900
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Large for gestational age, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:614520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia, Failure to thrive OMIM:251000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Failure to thrive, Eosinop... OMIM:304790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Failure to thrive, T lymphocytopenia, B lymphocytopenia ORPHA:277
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly OMIM:246400
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess OMIM:618108
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Transcobalamin Ii Deficiency
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Failure to thrive, Macrocytic anemia, Neut... OMIM:275350
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Pancytopenia, Failure to thrive, Thrombocytopenia, Aplastic anemia, Neutropenia OMIM:613989
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Weight loss, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:520
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... ORPHA:158061
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Neutropenia, Lymphopenia OMIM:616395
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:292
X-Linked Agammaglobulinemia
Anemia, Weight loss, Recurrent cutaneous abscess formation, Failure to thrive, Thrombocytopenia, ... ORPHA:47
Propionic Acidemia
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:606054
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Monocytosis, Thrombocytopenia OMIM:619644
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly ORPHA:398124
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Cohen Syndrome
Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Barth Syndrome
Hypochromic microcytic anemia, Failure to thrive, Cyclic neutropenia, Granulocytopenia, Neutropenia OMIM:302060
Felty Syndrome
Anemia, Weight loss, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte morphology ORPHA:47612
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:251110
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... ORPHA:1959
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Neutropenia OMIM:618253
Chediak-Higashi Syndrome
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... OMIM:214500
Autosomal Agammaglobulinemia
Failure to thrive, Neutropenia ORPHA:33110
Methylcobalamin Deficiency Type Cble
Pancytopenia, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:251100
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia OMIM:619767
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... ORPHA:158048
Necrotizing Enterocolitis
Small for gestational age, Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:508542
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Small for gestational age, Lymphopenia, Pancytopenia, Thrombo... OMIM:242900
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Failure to thrive, Eosinophilia, Neutropenia, Abscess OMIM:615816
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi... OMIM:260400
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopen... ORPHA:3226
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Schimke Immuno-Osseous Dysplasia
Anemia, Small for gestational age, Lymphopenia, Failure to thrive, Decreased proportion of naive ... ORPHA:1830
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:600901
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:614700
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Neutropenia OMIM:209920
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Small for gestational age, Pancytopenia, Failure to thrive, Thrombo... OMIM:277380
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia, Decreased body weight ORPHA:1667
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... ORPHA:2330
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Cartilage-Hair Hypoplasia
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... OMIM:250250
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... ORPHA:811
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... OMIM:608233
Fanconi Anemia, Complementation Group I
Neutropenia, Decreased body weight OMIM:609053
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failu... OMIM:600802
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Neutropenia, Megaloblastic anemia ORPHA:79284
3-Methylglutaconic Aciduria Type 7
Neutropenia, Infection associated neutropenia ORPHA:445038
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Weight loss, Liver abscess, Neutrophilia ORPHA:54251
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, Decreased p... ORPHA:169160
Poikiloderma With Neutropenia
Leukopenia, Neutropenia, Splenomegaly OMIM:604173
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia, Failure to thrive OMIM:617941
Sepsis In Premature Infants
Anemia, Decreased body weight, Small for gestational age, Leukocytosis, Thrombocytopenia, Neutrop... ORPHA:90051
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:617303
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Sneddon Syndrome
Lymphopenia OMIM:182410
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227645
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Failure to ... OMIM:602450
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Neutropenia OMIM:618005
Fusariosis
Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia ORPHA:228119
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Small for gestational age, Failure to thrive, Neutropenia OMIM:615471
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Small for gestational age, Refractory sideroblastic anemia, Sideroblas... OMIM:557000
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:607944
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... ORPHA:760
Chédiak-Higashi Syndrome
Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Increased proportion of ... ORPHA:167
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Neutrophilia, Increased proportion of CD4-positive T cells, Leukocy... OMIM:617099
Cryptogenic Organizing Pneumonia
Weight loss, Neutrophilia, Leukocytosis ORPHA:1302
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia ORPHA:100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Relapsing Fever
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia ORPHA:91547
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... OMIM:615952
Vici Syndrome
Leukopenia, T lymphocytopenia, Lymphopenia, Failure to thrive, Decreased proportion of CD4-positi... OMIM:242840
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Neutropenia in presence of anti-neutropil antibodies, Cachexia, Aut... ORPHA:37042
Whim Syndrome
Neutropenia, Lymphopenia, Abnormality of neutrophil morphology ORPHA:51636
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... ORPHA:124
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidativ... OMIM:618935
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... ORPHA:906
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277400
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Khan-Khan-Katsanis Syndrome
Failure to thrive, Anemia, Neutropenia, Lymphopenia OMIM:618460
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decre... OMIM:613011
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:606367
Agammaglobulinemia, X-Linked
Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Cohen Syndrome
Neutropenia, Failure to thrive in infancy, Obesity ORPHA:193
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227646
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... ORPHA:79124
Toxic Epidermal Necrolysis
Weight loss, Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Leigh Syndrome
Failure to thrive, Anemia, Neutropenia ORPHA:506
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Macrocephaly/Autism Syndrome
Large for gestational age, Obesity, Splenomegaly, Lymphopenia OMIM:605309
Rothmund-Thomson Syndrome
Anemia, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia ORPHA:2909
Diamond-Blackfan Anemia 1
Reticulocytopenia, Failure to thrive, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red... OMIM:105650
Glycogen Storage Disease Ib
Neutropenia, Splenomegaly OMIM:232220
Pneumocystosis
Abnormal neutrophil count, Weight loss ORPHA:723
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Failure to thrive, Spleno... ORPHA:525731
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Weight loss, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:50918
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Hermansky-Pudlak Syndrome
Neutropenia, Weight loss ORPHA:79430
Rothmund-Thomson Syndrome Type 1
Anemia, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia ORPHA:221008
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:617591
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Failure to thrive, Thrombocytosis OMIM:615934
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Neutropenia OMIM:617799
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Decreased p... ORPHA:90362
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
Adult-Onset Still Disease
Neutrophilia, Splenomegaly, Leukocytosis ORPHA:829
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Thrombocytopenia, Neutropenia, Megaloblastic anemia ORPHA:79282
Rothmund-Thomson Syndrome Type 2
Anemia, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia ORPHA:221016
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Failure to thrive in infancy, Splenomegaly, Abscess OMIM:612852
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome... ORPHA:228426
Cartilage-Hair Hypoplasia
Failure to thrive, Anemia, Neutropenia ORPHA:175
Mirage Syndrome
Leukopenia, Anemia, Decreased body weight, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Pearson Syndrome
Anemia, Small for gestational age, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic s... ORPHA:699
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neutropenia OMIM:617248
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... ORPHA:331235
Common Variable Immunodeficiency
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Failure to thrive in infancy, Splenom... ORPHA:1572
Thauvin-Robinet-Faivre Syndrome
Large for gestational age, Transient neutropenia OMIM:617107
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:454836
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Large for gestational age, Transient neutropenia ORPHA:500095
Pediatric Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphopenia ORPHA:93552
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Leukoc... ORPHA:3243
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Failure to thrive, Abnormal myeloid leukocyte morphology ORPHA:79259
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Lymphopenia, Decreased... OMIM:208900
Glycogen Storage Disease Ic
Cyclic neutropenia OMIM:232240
Zygomycosis
Brain abscess, Neutropenia, Splenic abscess ORPHA:73263
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Thymic Aplasia
Coombs-positive hemolytic anemia, Aplasia of the thymus, T lymphocytopenia, Decreased proportion ... ORPHA:83471
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Immunodeficiency 31C
Weight loss, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune ... OMIM:614162
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly OMIM:260920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, ... OMIM:615688
Aspartylglucosaminuria
Neutropenia, Vacuolated lymphocytes OMIM:208400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology OMIM:618223
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia OMIM:251260
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Leukocytosis OMIM:249100
Sponastrime Dysplasia
Small for gestational age, Neutropenia ORPHA:93357
Isotretinoin-Like Syndrome
Lymphopenia ORPHA:2306
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Small for gestational age, Lymphopenia, Decreased prop... OMIM:619573
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Small for gestational age, Lymphopenia, Thrombocytosis, I... ORPHA:84064
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:619381
Reynolds Syndrome
Splenomegaly, Lymphopenia OMIM:613471
Cushing Disease
Decreased eosinophil count, Lymphopenia, Leukocytosis, Truncal obesity, Abdominal obesity, Increa... ORPHA:96253

Histopathology

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

There is no histopathology data for Itgae

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 Itgae.

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

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MGI Allele Allele Type Produced
Itgaetm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Itgaetm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Itgaetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Itgaetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itgaetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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