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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615206
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
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
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis OMIM:619549
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent infections, Decreased... OMIM:616452
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections OMIM:615214
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:618987
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections OMIM:617744
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Recurrent otitis media, Inc... OMIM:618944
Secretory Component Deficiency
Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... OMIM:606843
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... OMIM:300988
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Defective B... OMIM:617765
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Recurrent fungal infections, Reduced natural... OMIM:300400
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Recurrent otitis media, Recurrent infections, Increased circulating ... OMIM:618982
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Recurrent lower r... OMIM:619220
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections OMIM:269840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:607594
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... OMIM:619281
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Candidiasis, Familial, 2
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... OMIM:212050
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... OMIM:615577
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Recurrent ear infections, Recurrent sinopulmonary... OMIM:615513
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections OMIM:616098
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Bronchiol... OMIM:614878
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM ORPHA:2643
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... OMIM:193670
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Increased circulating antibody level, Recurrent otitis media,... OMIM:618495
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:251190
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections OMIM:614069
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... OMIM:616576
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circulating antib... OMIM:616740
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating a... OMIM:616100
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... OMIM:618394
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Recurrent upper and lower respira... ORPHA:70593
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 64
Defective T cell proliferation, Increased circulating IgA level, Decreased circulating IgG level,... OMIM:618534
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infections OMIM:615767
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619510
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre... OMIM:601495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... ORPHA:276
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Recurrent infections, Transient hypogammaglobulinemia of infancy OMIM:251240
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... ORPHA:331206
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Lack of T cell function, Recurrent opportunist... ORPHA:35078
Immunodeficiency 52
Decreased circulating antibody level, Recurrent infections, Recurrent pneumonia, Persistent CMV v... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Meningitis, Panhypogammaglobulinemia, Recurr... OMIM:601457
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Recurrent viral infections, Decreased lymphocyte proliferation i... ORPHA:169154
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent otitis media, Recurrent infections, ... OMIM:615207
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Recurrent infections OMIM:618048
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... ORPHA:183675
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616910
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... ORPHA:331235
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Lack of T cell function, Recurrent otitis media, Increased ci... ORPHA:277
Cystic Fibrosis
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:586
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Recurrent bacterial s... ORPHA:217390
Kimura Disease
Increased circulating IgE level ORPHA:482
Lymphoproliferative Syndrome 2
Sepsis, Severe varicella zoster infection, Decreased circulating antibody level, Recurrent infect... OMIM:615122
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... OMIM:102700
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections OMIM:301045
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections OMIM:605309
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Bone marrow hypocellularity OMIM:618116
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Immunodeficiency 36
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Impaired memory B cell g... OMIM:308230
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent sin... OMIM:613101
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lack of T cell... ORPHA:572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Decreased specific antibody response to vaccination, Decreased circulating IgA level, Dec... OMIM:614700
Reticular Dysgenesis
Sepsis, Recurrent respiratory infections, Decreased circulating antibody level ORPHA:33355
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Recurrent infections, Dec... OMIM:614470
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Immunodeficiency 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Recurrent respiratory infection... OMIM:618108
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections OMIM:300635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in response to anti-... OMIM:600802
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... OMIM:600903
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Decreased circulating antibody level, Recurrent infections OMIM:617780
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... ORPHA:221139
Subacute Inflammatory Demyelinating Polyneuropathy
Severe infection, Increased circulating IgG level ORPHA:206594
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Immunodeficiency 92
BCGosis, Decreased circulating IgA level, Recurrent oral herpes, Decreased circulating IgG level,... OMIM:619652
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent upper respiratory tra... OMIM:210900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Panhypogammaglobulinemia OMIM:602450
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infections OMIM:246550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Reduced natural killer cell activity, Recurrent otitis media, Recu... OMIM:615559
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency 23
Severe varicella zoster infection, Increased circulating IgG level, Chronic mucocutaneous candidi... OMIM:615816
Igg4-Related Aortitis
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... ORPHA:449400
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level ORPHA:1116
Alpha-Heavy Chain Disease
Dysgammaglobulinemia ORPHA:100025
Wiskott-Aldrich Syndrome
Sepsis, Recurrent herpes, Increased circulating IgA level, Recurrent otitis media, Abnormal delay... OMIM:301000
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Partial absence of specific antibody response to Haemo... OMIM:618986
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis media OMIM:618523
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Caffey Disease
Increased circulating antibody level ORPHA:1310
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... OMIM:300972
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity OMIM:615190
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:603909
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Pyoderma, Recu... OMIM:300755
Bloom Syndrome
Severe toxoplasmosis, Severe varicella zoster infection, Recurrent herpes, Decreased circulating ... ORPHA:125
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Severe varicella zoster infection, Defective T cell proliferation, Increased circulating IgG leve... OMIM:618213
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Recurrent respiratory infections, Recurrent infections, Increase... OMIM:615934
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Recurrent infections, Decreased serum complement C3 ORPHA:329918
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infections, Rec... ORPHA:420741
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Recurrent infections, Pers... OMIM:613011
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Recurrent infections OMIM:256500
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Severe varicella zoster infection, Decreased circulating IgA leve... OMIM:606367
Autosomal Agammaglobulinemia
Sepsis, Agammaglobulinemia, Recurrent infections, Meningitis, Recurrent respiratory infections ORPHA:33110
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... ORPHA:90045
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Increased circulating IgA level, Decreased circulating IgG level... ORPHA:2442
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Pgm3-Cdg
Recurrent bacterial infections, Sepsis, Increased circulating IgA level, Recurrent fungal infecti... ORPHA:443811
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... ORPHA:90363
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level, Recurrent infections OMIM:300953
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Ataxia-Telangiectasia
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:100
Netherton Syndrome
Increased circulating IgE level, Recurrent respiratory infections, Decreased circulating antibody... ORPHA:634
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immunodeficiency 58
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... OMIM:618131
Roifman Syndrome
Decreased circulating antibody level, Recurrent pneumonia, Recurrent otitis media ORPHA:353298
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Sepsis, Decreased circulating antibody level, Recurrent lower respir... OMIM:233600
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent low... OMIM:615952
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... ORPHA:1493
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections OMIM:608809
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Complement deficiency, Paraproteinemia, Increased circul... ORPHA:91139
Thymic Tumor
Dysgammaglobulinemia ORPHA:100100
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Icf Syndrome
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:2268
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Good Syndrome
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... ORPHA:169105
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Decreased circulating IgG level, Bone marrow hypocellularity, In... ORPHA:3261
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... ORPHA:449432
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent bronchitis, Recurrent viral infections, Decreased circulating antibody level, R... ORPHA:293978
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, Abnormal... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Recurrent infections OMIM:226300
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
X-Linked Agammaglobulinemia
Sepsis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Meningitis, Recurrent pneumonia ORPHA:47
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Lassa Fever
Sepsis, Increased circulating IgM level ORPHA:99824
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level OMIM:606056
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Pneumocystis jirovecii pneumonia ORPHA:723
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Rift Valley Fever
Infectious encephalitis, Severe viral infection, Increased circulating IgM level, Increased circu... ORPHA:319251
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Agammaglobulinemia ORPHA:935
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Tularemia
Brain abscess, Meningitis, Increased circulating antibody level ORPHA:3392
Prolidase Deficiency
Increased circulating antibody level, Recurrent infections, Recurrent pneumonia OMIM:170100
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Popov-Chang syndrome
Decreased circulating antibody level, Recurrent otitis media OMIM:618428
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... ORPHA:540
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Recurrent infections OMIM:617425
Congenital Disorder Of Glycosylation, Type Ig
Recurrent respiratory infections, Decreased circulating antibody level OMIM:607143
Zika Virus Disease
Meningitis, Infectious encephalitis, Increased circulating IgM level ORPHA:448237
Griscelli Syndrome
Decreased circulating antibody level, Bone marrow hypocellularity ORPHA:381
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Meningitis, Increased circu... ORPHA:297
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgA, Decreased circulating total IgG, Decreased lymphocyte proliferat... OMIM:619381
Leishmaniasis
Increased circulating antibody level ORPHA:507
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
Congenital Analbuminemia
Increased circulating antibody level, Recurrent lower respiratory tract infections ORPHA:86816
Sézary Syndrome
Abnormal immunoglobulin level ORPHA:3162
Ataxia-Telangiectasia
Recurrent bronchitis, Decreased circulating IgA level, Defective B cell differentiation, Decrease... OMIM:208900
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Whim Syndrome
Recurrent bacterial infections, Sepsis, Decreased circulating antibody level, Meningitis, Recurre... ORPHA:51636
Alg12-Cdg
Sepsis, Recurrent ear infections, Complete or near-complete absence of specific antibody response... ORPHA:79324
Primary Biliary Cholangitis
Increased circulating IgA level, Recurrent fungal infections, Increased circulating IgM level, On... ORPHA:186
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Increased circulating... OMIM:617303
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Common Variable Immunodeficiency
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent bronchitis ORPHA:1572
Thymoma
Abnormal lymphocyte proliferation, Decreased circulating antibody level, Abnormal lymphocyte phys... ORPHA:99867
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Igg4-Related Kidney Disease
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... ORPHA:449395
Ebola Hemorrhagic Fever
Sepsis, Increased circulating antibody level ORPHA:319218
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Recurrent infections OMIM:617591
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Severe infection OMIM:304790
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Cryoglobulinemia, I... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impaired T cell func... OMIM:614576
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Recurrent respiratory infections, Recurrent infections ORPHA:2314
Hyper-Igd Syndrome
Increased circulating IgA level, Chronic oral candidiasis, Recurrent infections, Molluscum contag... OMIM:260920
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Decreased serum complement factor B, Increased circulating IgG l... ORPHA:2298
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Recurrent infections OMIM:242900
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Recurrent upper and lower ... ORPHA:79329
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Increased circulating IgA level, Recurrent otitis media, Inc... OMIM:256040
Aspergillosis
Infectious encephalitis, Invasive pulmonary aspergillosis, Increased circulating IgE level, Menin... ORPHA:1163
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level, Unusual CNS infection, Invasive... ORPHA:228123
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, Recurrent bronchitis, Recurrent urinary tract ... OMIM:251260
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Cowden Syndrome 1
Decreased circulating antibody level, Recurrent infections 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
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Recurrent infections OMIM:601675
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Recurrent infections OMIM:613327
Cystic Echinococcosis
Unusual infection, Increased circulating antibody level, Invasive parasitic infection ORPHA:400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG4 level ORPHA:79078
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Recurrent respiratory infections OMIM:613385
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Decreased circulating antibody level, Recurrent infections ORPHA:79396
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM l... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Brucellosis
Infectious encephalitis, Increased circulating IgM level, Increased circulating IgG level ORPHA:1304
Say-Barber-Miller Syndrome
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Decreased circulating antibody l... ORPHA:3132
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Chronic lymphocytic meningitis, Recurrent otitis media, Recurren... ORPHA:99843
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Decreased circulating antibody level, Bone marrow hypocellularity, Recurrent infections, Recurren... OMIM:615688
Japanese Encephalitis
Infectious encephalitis, Meningitis, Increased circulating antibody level, Increased circulating ... ORPHA:79139
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:223370
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Q Fever
Infectious encephalitis, Cryoglobulinemia, Unusual infection, Meningitis, Increased circulating a... ORPHA:781
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Gaucher Disease Type 3
Increased circulating antibody level, Recurrent respiratory infections ORPHA:77261
Autoimmune Polyendocrinopathy Type 4
Decreased circulating antibody level ORPHA:227990
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Cysticercosis
Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Crimean-Congo Hemorrhagic Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:99827
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Trichothiodystrophy
Recurrent bronchopulmonary infections, Panhypogammaglobulinemia, Recurrent infections ORPHA:33364
Autoimmune Polyendocrinopathy Type 3
Decreased circulating antibody level ORPHA:227982
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Recurrent infections, Increased circulating IgE level, Meningitis, Recurrent respiratory ... ORPHA:37042
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Primary Sjögren Syndrome
Cryoglobulinemia, Decreased serum complement C4, Decreased circulating antibody level, Complement... ORPHA:289390
Syndromic Diarrhea
Panhypogammaglobulinemia, Recurrent infections ORPHA:84064
Trichinellosis
Increased circulating IgE level, Meningitis ORPHA:863
Hennekam Syndrome
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:2136
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased circulating antibody level, Complement deficiency, Incr... ORPHA:470
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Cartilage-Hair Hypoplasia
Decreased circulating antibody level ORPHA:175
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level OMIM:274000
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Yellow Fever
Opportunistic infection, Increased circulating interleukin 6, Increased circulating IgM level ORPHA:99829
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level ORPHA:247598
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM ORPHA:171
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Sponastrime Dysplasia
Decreased circulating antibody level, Recurrent pneumonia ORPHA:93357
Gaucher Disease
Increased circulating antibody level ORPHA:355
Marburg Hemorrhagic Fever
Increased circulating antibody level, Severe infection ORPHA:99826
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level, Recurrent infections ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Recurrent infections, Recurrent otitis media ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level, Recurrent infections, Recurrent otitis media ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Recurrent infections, Recurrent otitis media 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.

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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

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