banner
Genes Phenotypes Help, News, Blog

Gene: Mbl1 MGI:96923

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mannose-binding lectin (protein A) 1
Synonyms:
MBL-A,  MBP-A

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 Mbl1 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 Mbl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:619707
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 44
Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... OMIM:616636
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... OMIM:619773
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Decre... OMIM:618459
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... OMIM:617765
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... OMIM:300400
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... OMIM:609529
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... OMIM:614699
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level OMIM:233650
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Persistent CMV viremia, Increased circulating IgG level, Increased circula... OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased cir... OMIM:618982
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections OMIM:615214
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 25
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... OMIM:610163
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... OMIM:607594
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Decreased circulating total IgM, Increased circulating IgE leve... OMIM:617638
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... OMIM:615592
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, I... OMIM:615513
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... OMIM:619281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... ORPHA:98813
Immunodeficiency 37
Recurrent infections, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:619824
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:243700
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr... OMIM:615577
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Myeloma, Multiple
Paraproteinemia OMIM:254500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 48
Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent candida infections OMIM:269840
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Persistent EBV viremia, Recurrent sin... OMIM:620282
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Chronic oral ca... OMIM:616740
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating total IgM, Recurrent sinopulmonary infections, Decreased cir... OMIM:614878
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Inc... OMIM:618495
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Recurrent infections, Increased circulating IgG level, Increased... OMIM:618534
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased circulating IgE, D... OMIM:618394
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le... OMIM:620210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating total IgM, Decrea... OMIM:619510
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... OMIM:616100
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... ORPHA:276
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... ORPHA:331206
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Recurrent infections, Persistent EBV viremia, Decrea... OMIM:617514
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased circulating anti... OMIM:619846
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Immunodeficiency 22
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decreased circulat... OMIM:615758
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Increased circulati... ORPHA:169154
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent infections, Decreased circulat... OMIM:616576
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increa... ORPHA:169160
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... ORPHA:35078
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... OMIM:613496
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Failure to thrive secon... OMIM:601457
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren... OMIM:615207
Activated Pi3K-Delta Syndrome
Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating antibody level, S... ORPHA:397596
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616910
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... OMIM:618048
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent upper respiratory tract infections, Sepsis, Recurrent candida infections, Decreased cir... ORPHA:436159
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... ORPHA:183675
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Kimura Disease
Increased circulating IgE level ORPHA:482
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... ORPHA:277
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Sepsis, Decreased circu... OMIM:615122
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Congenital Disorder Of Glycosylation, Type Iir
Recurrent infections, Decreased circulating antibody level OMIM:301045
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity OMIM:614493
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... OMIM:308240
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ... OMIM:613101
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis, Decreased circulating antibody level ORPHA:33355
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Decreased circulating ant... OMIM:619802
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... OMIM:616005
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Recurrent respiratory infections, Increased circulating antibody ... OMIM:614470
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... OMIM:620040
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Partial absence of specific antibody response to tetanus vaccin... OMIM:618108
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia OMIM:616069
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Recurrent viral infections, Increased circulating IgE level, R... OMIM:102700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent infections, Decreased ci... OMIM:614700
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Recurrent infections, Decreased circulating antibody level OMIM:300635
Primary Intestinal Lymphangiectasia
Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, O... ORPHA:90362
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... OMIM:147060
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m... OMIM:618282
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Severe infection ORPHA:206594
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent upper respirato... OMIM:600802
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... OMIM:615816
Immunodeficiency 32B
Recurrent respiratory infections, BCGitis, Recurrent infections, Impaired oxidative burst, Abnorm... OMIM:226990
Alpha-Heavy Chain Disease
Dysgammaglobulinemia ORPHA:100025
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Igg4-Related Aortitis
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... ORPHA:449400
Angiostrongyliasis
Increased circulating IgA level, Unusual CNS infection, Increased circulating specific IgE antibo... ORPHA:74
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... OMIM:615559
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level OMIM:618523
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Caffey Disease
Increased circulating antibody level ORPHA:1310
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Abnormal B cell proliferation, Partial ab... OMIM:619652
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Recurrent... OMIM:615468
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level ORPHA:1116
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par... OMIM:618986
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... OMIM:607143
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... OMIM:618213
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Recurrent infections, Decreased circulating antibody level OMIM:617780
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr... OMIM:300972
Wiskott-Aldrich Syndrome
Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Increase... OMIM:301000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Recurrent infections, Persistent EBV viremia, Decreased circulat... OMIM:613011
Immunodeficiency 98 With Autoinflammation, X-Linked
Pneumocystis jirovecii pneumonia, Recurrent infections, Bone marrow hypocellularity, Chronic oral... OMIM:301078
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Recurrent infections, Recurrent respiratory infections, Increase... OMIM:615934
C3 Glomerulopathy
Recurrent infections, Paraproteinemia, Decreased circulating complement C3 concentration, Decreas... ORPHA:329918
Bloom Syndrome
Recurrent herpes, Recurrent urinary tract infections, Severe varicella zoster infection, Recurren... ORPHA:125
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:619767
Riddle Syndrome
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus... ORPHA:420741
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Hereditary Folate Malabsorption
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... ORPHA:90045
Pgm3-Cdg
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... ORPHA:443811
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Meningitis ORPHA:33110
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec... OMIM:606367
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Decreased circulating ... OMIM:256500
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Roifman Syndrome
Recurrent otitis media, Decreased T cell activation, Recurrent pneumonia, Decreased circulating a... ORPHA:353298
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Ataxia-Telangiectasia
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:100
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... ORPHA:90363
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... ORPHA:634
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent upper respiratory tra... OMIM:210900
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Immunodeficiency 17
Recurrent respiratory infections, Chronic decreased cirulating IgG2, Recurrent gastroenteritis, C... OMIM:615607
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Increased circulating IgE level, Sepsis, BCGitis, P... OMIM:602450
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... OMIM:615952
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Decreased circulating antibody level OMIM:619750
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... ORPHA:1493
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Icf Syndrome
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:2268
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... ORPHA:169105
Macrocephaly/Autism Syndrome
Recurrent otitis media, Recurrent infections, Decreased circulating antibody level OMIM:605309
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent ear infections, Rec... ORPHA:79124
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Zika Virus Disease
Increased circulating IgM level, Infectious encephalitis, Meningitis ORPHA:448237
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Pneumocystosis
Pneumocystis jirovecii pneumonia, Increased circulating antibody level, Chronic oral candidiasis ORPHA:723
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent lower respiratory tract infections, Recurrent infections, Decreased circulating antibod... OMIM:226300
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Agammaglobulinemia, Meningitis ORPHA:47
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level, Infectious encephalitis, Severe... ORPHA:319251
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... OMIM:620005
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Increased circulating IgA level OMIM:617099
Tularemia
Meningitis, Brain abscess, Increased circulating antibody level ORPHA:3392
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Recurrent infections OMIM:170100
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Recurrent infections, Decreased circulating total IgM, Recurrent... OMIM:619381
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Recurrent respiratory infections ORPHA:935
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Decrease... ORPHA:540
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Leishmaniasis
Increased circulating antibody level ORPHA:507
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Griscelli Syndrome
Bone marrow hypocellularity, Decreased circulating antibody level ORPHA:381
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Tick-Borne Encephalitis
Meningitis, Unusual CNS infection, Increased circulating IgG level, Increased circulating IgM lev... ORPHA:297
Sézary Syndrome
Abnormal immunoglobulin level ORPHA:3162
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Recurrent infections, Decreased circulating antibody level OMIM:617425
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ... ORPHA:293978
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level OMIM:243150
Alg12-Cdg
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... ORPHA:79324
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level OMIM:616395
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... ORPHA:51636
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Common Variable Immunodeficiency
Recurrent respiratory infections, Recurrent bronchitis, Decreased circulating antibody level ORPHA:1572
Primary Biliary Cholangitis
Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin... ORPHA:186
Ebola Hemorrhagic Fever
Increased circulating antibody level, Sepsis ORPHA:319218
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Severe infection, Increased circulating IgE level OMIM:304790
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Sep... OMIM:617303
Thymoma
Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circulating antibody... ORPHA:99867
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Recurrent infections OMIM:617591
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Hyper-Igd Syndrome
Increased circulating IgA level, Recurrent infections, Chronic oral candidiasis, Molluscum contag... OMIM:260920
Postinfectious Vasculitis
Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost... ORPHA:48435
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections ORPHA:2314
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... OMIM:614576
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Recurrent infections, Decreased circulating antibody level OMIM:242900
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas... ORPHA:2298
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level OMIM:615508
Aspergillosis
Increased circulating IgE level, Unusual CNS infection, Invasive pulmonary aspergillosis, Meningi... ORPHA:1163
Coccidioidomycosis
Coccidioidal meningitis, Invasive fungal infection, Unusual CNS infection, Increased circulating ... ORPHA:228123
Ataxia-Telangiectasia
Decreased circulating IgG level, Recurrent bronchitis, Recurrent lower respiratory tract infectio... OMIM:208900
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Mgat2-Cdg
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:79329
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449395
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Cowden Syndrome 1
Recurrent infections, Decreased circulating antibody level OMIM:158350
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Decreased circulating antibody level OMIM:616084
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level ORPHA:79078
Cystic Echinococcosis
Invasive parasitic infection, Increased circulating antibody level, Unusual infection ORPHA:400
Diarrhea 10, Protein-Losing Enteropathy Type
Recurrent upper respiratory tract infections, Decreased circulating antibody level OMIM:618183
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level OMIM:613327
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Decreased circulating IgA level OMIM:613385
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Recurrent infections OMIM:601675
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent pneumonia, Recurrent otitis m... OMIM:251260
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent infections, Sepsis, Decreased circulating antibody level ORPHA:79396
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Sepsis, Increased circulating IgM level, Bone marrow hypocellul... ORPHA:505248
Brucellosis
Increased circulating IgG level, Increased circulating IgM level, Infectious encephalitis ORPHA:1304
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent pneumonia, Recurren... ORPHA:99843
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis, M... ORPHA:79139
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent infections, Decreased circulating antibody level, Bone marrow hypocellularity, Recurren... OMIM:615688
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Autoimmune Polyendocrinopathy Type 4
Chronic mucocutaneous candidiasis, Decreased circulating antibody level ORPHA:227990
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent infections OMIM:618278
Q Fever
Unusual infection, Increased circulating antibody level, Cryoglobulinemia, Meningitis, Infectious... ORPHA:781
Autoimmune Polyendocrinopathy Type 3
Chronic mucocutaneous candidiasis, Decreased circulating antibody level ORPHA:227982
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Gaucher Disease Type 3
Recurrent respiratory infections, Increased circulating antibody level ORPHA:77261
Cysticercosis
Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Dubowitz Syndrome
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:223370
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Recurrent infections, ... ORPHA:37042
Trichinellosis
Increased circulating IgE level, Meningitis ORPHA:863
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Trichothiodystrophy
Recurrent bronchopulmonary infections, Panhypogammaglobulinemia, Recurrent infections ORPHA:33364
Hennekam Syndrome
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:2136
Syndromic Diarrhea
Panhypogammaglobulinemia, Recurrent infections ORPHA:84064
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Primary Sjögren Syndrome
Decreased circulating antibody level, Increased circulating antibody level, Decreased circulating... ORPHA:289390
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Lysinuric Protein Intolerance
Decreased circulating antibody level, Abnormality of humoral immunity, Recurrent bacterial infect... ORPHA:470
Trichohepatoenteric Syndrome 1
Decreased circulating antibody level OMIM:222470
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Cartilage-Hair Hypoplasia
Decreased circulating antibody level ORPHA:175
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level ORPHA:247598
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Opportunistic... ORPHA:99829
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Polyclonal elevation of IgM ORPHA:171
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level OMIM:619472
Aicardi-Goutieres Syndrome 7
Recurrent lower respiratory tract infections, Increased circulating antibody level OMIM:615846
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level OMIM:274000
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level ORPHA:93357
Marburg Hemorrhagic Fever
Severe infection, Increased circulating antibody level ORPHA:99826
Gaucher Disease
Increased circulating antibody level ORPHA:355
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Recurrent infections, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Recurrent otitis media, Recurrent infections, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Recurrent otitis media, Recurrent infections, Decreased circulating antibody level ORPHA:261552

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 Mbl1

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 Mbl1.

No publications found that use IMPC mice or data for Mbl1.

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
Mbl1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mbl1tm257793(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter