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Gene: Lilrb4a MGI:102701

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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:
leukocyte immunoglobulin-like receptor, subfamily B, member 4A
Synonyms:
Lilrb4,  HM18,  Gp49b,  ILT3,  CD85K

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 Lilrb4a 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 Lilrb4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... ORPHA:98848
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Lack of T cell function, Recu... ORPHA:277
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Decre... OMIM:615767
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma OMIM:147050
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... OMIM:606843
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... OMIM:607594
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia OMIM:212050
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... OMIM:615559
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... OMIM:617241
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Recurrent otitis media OMIM:613501
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Atopic dermatitis, Crackles, Increased circulating IgE level, ... ORPHA:2902
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in... ORPHA:169154
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Eosin... OMIM:618523
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas... OMIM:601495
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni... OMIM:601457
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Decrea... ORPHA:169160
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... OMIM:147060
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... OMIM:300635
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... OMIM:102700
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... OMIM:209950
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... OMIM:616098
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased circulating ... OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis OMIM:193670
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Decreased circulating antibody level, Recurrent sk... OMIM:616576
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... ORPHA:331206
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Decreased circulating IgG level, Decreased circulating anti... OMIM:308240
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Increased circu... OMIM:614470
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased circulating IgA level... OMIM:606367
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... OMIM:614700
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Neutropenia, Infectious encephalitis, Pneumonia, Bronch... ORPHA:1163
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... ORPHA:35078
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Hepatiti... OMIM:304790
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Chronic pulmonary obstruction, Neutropenia, Leukopenia, Partial absence of spe... OMIM:618986
Immunodeficiency 46
Neutropenia, Chronic oral candidiasis, Decreased circulating antibody level, Anemia, Intermittent... OMIM:616740
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Decreased circulating IgA level, Chronic hepatitis, Decreased circulatin... OMIM:308230
Netherton Syndrome
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... OMIM:256500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Decre... ORPHA:275
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Increa... ORPHA:90280
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Megaloblastic an... OMIM:617780
Chédiak-Higashi Syndrome
Hypoproteinemia, Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal... ORPHA:167
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Abnorm... ORPHA:33355
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neutropil antibo... ORPHA:572
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... OMIM:618116
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Peeling Skin Syndrome 1
Increased circulating IgE level, Asthma OMIM:270300
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Mastocytosis
Respiratory insufficiency, Acute leukemia, Chronic leukemia, Cough, Splenomegaly, Asthma, Mastocy... ORPHA:98292
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin ORPHA:542592
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in pre... ORPHA:37042
Leishmaniasis
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating... ORPHA:507
Lymphoproliferative Syndrome 1
Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, An... OMIM:613011
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... OMIM:615122
Selective Igm Deficiency
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decre... ORPHA:331235
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Cough, Osteomyelitis, Increased circulating IgE level, Skin rash, E... ORPHA:2314
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the large int... OMIM:301000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... OMIM:613470
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Epistaxis, Intermittent ... OMIM:313900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxid... OMIM:618935
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... OMIM:615577
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Asth... ORPHA:634
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... OMIM:616005
Macrophage Activation Syndrome
Hemophagocytosis, Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomega... ORPHA:158061
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Hennekam-Beemer Syndrome
Mastocytosis, Respiratory insufficiency, Pneumonia ORPHA:2135
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Erythroder... ORPHA:540
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... ORPHA:183675
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... ORPHA:90362
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG l... OMIM:208900
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Colitis OMIM:615190
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Eosinophilia, Elevated circulating C-reactive protein concentration... ORPHA:449395
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Respiratory insufficiency, Intraalveolar phospholipid accum... OMIM:618042
Good Syndrome
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Recurrent skin in... ORPHA:169105
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Abnorm... ORPHA:330015
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233710
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Psoriasiform dermatitis, Neonatal respiratory distress, Decreased circulating ... ORPHA:221139
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Malar... OMIM:210900
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:306400
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Comp... ORPHA:449432
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Increased circulating antibod... OMIM:617591
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... OMIM:602668
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Chronic otitis media, Decreased circulating antibody level, Splenomega... ORPHA:1572
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total IgM, Elevated ci... OMIM:619381
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Bloom Syndrome
Acute lymphoblastic leukemia, Chronic pulmonary obstruction, Abnormal proportion of CD8-positive ... ORPHA:125
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... ORPHA:449563
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... ORPHA:420741
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia, Perisylvian polymicrogyria OMIM:616638
Leukocyte Adhesion Deficiency
Sinusitis, Impaired platelet aggregation, Conjunctivitis, Leukocytosis, Polycythemia, Bone marrow... ORPHA:2968
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hashimoto thyroiditis, Reduced forced expiratory volume in one second, Decreased circulating IgA ... OMIM:613385
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Recurrent... OMIM:612301
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Elevated alpha-fetoprotein, Leukemia OMIM:208910
Immunodeficiency 47
Decreased circulating total IgA, Normocytic anemia, Decreased circulating total IgG, Leukopenia, ... OMIM:300972
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Eczema, Macrocytic anemia, Stomatitis, Decreased circulating IgA level, Iron defi... OMIM:212750
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Polymicrogyria, Asthma ORPHA:457485
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level, Hypoalbuminemia OMIM:212065
Trichinellosis
Increased circulating IgE level, Skin rash, Conjunctivitis ORPHA:863
Dubowitz Syndrome
Eczema, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:223370
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly, Elevated circulating creatine kinase concentration OMIM:613327
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic de... ORPHA:83617
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Obstructive sleep apnea, Decreased circulating total IgM, Centra... ORPHA:369837
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Splenomegaly ORPHA:373
Viss Syndrome
Atopic dermatitis, Eczema, Decreased circulating IgA level, Pneumothorax, Pulmonary arterial hype... OMIM:619472
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600

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 Lilrb4a

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 Lilrb4a.

No publications found that use IMPC mice or data for Lilrb4a.

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MGI Allele Allele Type Produced
Lilrb4atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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