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Gene: Mbl1 MGI:96923

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.

Human diseases associated with Mbl1 (0 diseases)
Human diseases predicted to be associated with Mbl1 (416 diseases)

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	Matching phenotypes	Source
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in...	OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections	OMIM:606445
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob...	OMIM:619707
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,...	OMIM:613493
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Decreased circulating IgA level, Abnormal circu...	OMIM:616636
Histiocytosis, Familial Lipochrome	Recurrent infections, Increased circulating antibody level	OMIM:235900
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections	OMIM:610798
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c...	OMIM:618459
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio	OMIM:616941
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Complete or near-complete a...	OMIM:615401
Immunoglobulin A Deficiency 1	Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina...	OMIM:137100
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr...	OMIM:619773
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 18	Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente...	OMIM:615615
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 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 50	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i...	OMIM:300988
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t...	OMIM:613495
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat...	OMIM:618944
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin...	OMIM:609529
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob...	OMIM:300400
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency 11A	Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati...	OMIM:615206
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Recurrent ot...	OMIM:618982
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Recurrent otitis media, Recurrent lower respiratory tract infections, Rec...	OMIM:619220
Immunodeficiency 112	Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B...	OMIM:620449
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect...	OMIM:614102
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections	OMIM:233650
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:240500
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
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Disseminated molluscum contagiosum, Severe cytomegalovirus infec...	OMIM:617638
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 96	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti...	OMIM:619774
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent respiratory infections, Recurrent infections, Panhypogammaglobulinemia	OMIM:615214
Immunodeficiency 15B	Decreased lymphocyte proliferation in response to mitogen, Agammaglobulinemia, Recurrent infectio...	OMIM:615592
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,...	OMIM:613501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr...	OMIM:614069
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C...	ORPHA:98813
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ...	OMIM:619281
Immunodeficiency 70	Decreased circulating total IgG, Recurrent sinusitis, Decreased circulating total IgM, Decreased ...	OMIM:618969
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Recurrent sinop...	OMIM:615513
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Infectious encephalitis	OMIM:616098
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	ORPHA:2643
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level...	OMIM:616873
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Immunodeficiency 102	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ...	OMIM:301082
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Meningitis, Decreased circulating antibody level, Chr...	OMIM:616740
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Increased cir...	OMIM:618495
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	OMIM:618534
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Bronchiolitis, Recurrent sinopu...	OMIM:614878
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to po...	ORPHA:70593
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	OMIM:620210
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinopulmonary infecti...	OMIM:618394
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Sepsi...	ORPHA:276
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM...	OMIM:619510
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level	OMIM:615872
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Increased circul...	OMIM:243700
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic tinea infection, Increased circulating IgE level, Phaeohyphomycosis, Onychomycosis, Menin...	OMIM:212050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Decreased ...	OMIM:616100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:331206
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Recurrent infections, Transient hypogammaglobulinemia of infancy	OMIM:251240
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:615767
Immunodeficiency 48	Pneumocystis carinii pneumonia, Recurrent respiratory infections, Recurrent candida infections, P...	OMIM:269840
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Combined Immunodeficiency, X-Linked	Pneumocystis carinii pneumonia, Decreased circulating IgG level, Recurrent bronchitis	OMIM:312863
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ...	ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level, Recurrent sinopulmonary ...	OMIM:619846
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections, Recurrent infection...	OMIM:616576
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Decreased circulating IgA level, Defective T cell pr...	OMIM:617514
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections	ORPHA:169079
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrom...	OMIM:300755
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Decreased circulating IgA level, Decreased circulating ...	OMIM:612782
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:301081
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Meningitis, Recurrent opportunistic infections, Failure to thrive secondary to recurrent infectio...	OMIM:601457
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurrent respiratory infections, Panhypog...	OMIM:615207
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Severe cytom...	ORPHA:397596
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Recu...	OMIM:618048
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g...	OMIM:308230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Decreased circulating antibody ...	OMIM:616910
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ...	ORPHA:436159
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level	OMIM:618042
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Selective Igm Deficiency	Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot...	ORPHA:331235
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	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ...	ORPHA:183675
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Kimura Disease	Increased circulating IgE level	ORPHA:482
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete...	OMIM:613496
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni...	ORPHA:277
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Recurrent infections, Increased circulating antibody level	OMIM:615285
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Recurrent respiratory infections, Decreased circulating antibody level	OMIM:618116
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Sepsis, EBV menin...	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
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Partial absence of specific antibody...	OMIM:620632
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Recurrent respiratory infections, Recurrent viral infections	OMIM:620532
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation	OMIM:614493
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Impaired Ig class switch recombination, Recurrent infection of th...	OMIM:608184
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections	OMIM:619693
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Immunodeficiency 67	Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a...	OMIM:607676
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Abnormal natu...	OMIM:613101
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Reticular Dysgenesis	Recurrent respiratory infections, Decreased circulating antibody level, Sepsis	ORPHA:33355
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia	ORPHA:318
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Decreased lymphocyte apoptosis, Recurrent respiratory infections, Increased...	OMIM:614470
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Recurrent urinary tract infections, Recurrent otitis media, Decr...	OMIM:619802
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R...	OMIM:614700
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Decreased circulating antibody level, Infectious encephalitis, D...	OMIM:308240
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:572
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir...	OMIM:102700
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningitis, Decreased circ...	ORPHA:90362
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis	OMIM:616069
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent infections, Decreased circulating antibody level, Recurrent respiratory infections	OMIM:300635
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant Staphylococcus aure...	OMIM:618282
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level	OMIM:618752
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Severe infection	ORPHA:206594
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	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Decreased ...	ORPHA:221139
Alpha-Heavy Chain Disease	Dysgammaglobulinemia	ORPHA:100025
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferatio...	OMIM:600802
Immunodeficiency 32B	Recurrent infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG level, Recurren...	OMIM:226990
Angiostrongyliasis	Unusual CNS infection, Increased circulating specific IgE antibody, Increased circulating IgA lev...	ORPHA:74
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent otiti...	OMIM:615559
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Recurrent respiratory infections	OMIM:618523
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Decreased lymphocyte proliferation ...	OMIM:618986
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ...	OMIM:615468
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:612301
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Decreased T cell activation, Defective T cell proliferation, Can...	OMIM:618213
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent infections, Decreased circulating antibody level, Recurrent pneumonia	OMIM:617780
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Recurrent bacterial inf...	OMIM:300972
Wiskott-Aldrich Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased specific anti-polysa...	OMIM:301000
Maternal Uniparental Disomy Of Chromosome 1	Recurrent infections, Panhypogammaglobulinemia	ORPHA:251009
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Recurrent infections, Decreas...	ORPHA:329918
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P...	OMIM:307200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Recurrent infections, Increased circulating IgA level, Recurrent...	OMIM:615934
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, R...	OMIM:301078
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Decreased circulating IgG level, Recurrent lower respiratory tra...	OMIM:620603
Bloom Syndrome	Decreased circulating IgG level, Severe varicella zoster infection, Recurrent tonsillitis, Recurr...	ORPHA:125
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Riddle Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased circu...	ORPHA:420741
Autosomal Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Agammaglobulinemia, Meningitis, Recurrent infections	ORPHA:33110
Pgm3-Cdg	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent r...	ORPHA:443811
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Netherton Syndrome	Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ...	OMIM:256500
Hereditary Folate Malabsorption	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i...	ORPHA:90045
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Recurrent infections, Decreased circulating antibody level, Pers...	OMIM:613011
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel...	OMIM:606367
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Netherton Syndrome	Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu...	ORPHA:634
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating IgA level, Decreased circulating total Ig...	ORPHA:90363
Immunodeficiency 58	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:618131
Immunodeficiency 17	Chronic decreased circulating IgG2, Recurrent otitis media, Recurrent gastroenteritis, Recurrent ...	OMIM:615607
Ataxia-Telangiectasia	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:100
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:210900
Roifman Syndrome	Recurrent otitis media, Recurrent pneumonia, Decreased circulating antibody level	ORPHA:353298
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Recurrent upper respiratory tract infections, Sepsis, BCGitis, Panhypogammaglobulinemia, Increase...	OMIM:602450
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Sepsis, Herpes simplex encephalitis, Complete or ne...	OMIM:233600
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Decreased circulating antibody level	OMIM:619750
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Vici Syndrome	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgG2 level, Recurren...	ORPHA:1493
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Icf Syndrome	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:2268
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Good Syndrome	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i...	ORPHA:169105
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin...	ORPHA:3261
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Pneumocystosis	Pneumocystis jirovecii pneumonia, Chronic oral candidiasis, Increased circulating antibody level	ORPHA:723
Macrocephaly/Autism Syndrome	Recurrent otitis media, Recurrent infections, Decreased circulating antibody level	OMIM:605309
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre...	OMIM:615952
Lassa Fever	Increased circulating IgM level, Sepsis	ORPHA:99824
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral...	ORPHA:79124
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Recurrent lower respiratory tract infections, Recurrent infections, Decreased circulating antibod...	OMIM:226300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Zika Virus Disease	Meningitis, Increased circulating IgM level, Infectious encephalitis	ORPHA:448237
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Agammaglobulinemia, Meningitis, Recurrent cutaneous abscess formation	ORPHA:47
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level, Severe viral infection, Infecti...	ORPHA:319251
Prolidase Deficiency	Recurrent infections, Recurrent pneumonia, Increased circulating antibody level	OMIM:170100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620005
Tularemia	Meningitis, Brain abscess, Increased circulating antibody level	ORPHA:3392
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se...	ORPHA:293978
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Recur...	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
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:540
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Leishmaniasis	Increased circulating antibody level	ORPHA:507
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
Tick-Borne Encephalitis	Unusual CNS infection, Abnormal circulating cytokine concentration, Meningitis, Increased circula...	ORPHA:297
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Sézary Syndrome	Abnormal immunoglobulin level	ORPHA:3162
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Recurrent infections, Decreased circulating antibody level	OMIM:617425
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent viral infections, Increased circulating IgE level, Recurrent fungal infections, Increas...	OMIM:620565
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Autoinflammatory Disease, Systemic, With Vasculitis	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:620376
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level	ORPHA:83600
Alg12-Cdg	Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Complete or near-complete absence of...	ORPHA:79324
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level	OMIM:243150
Ebola Hemorrhagic Fever	Sepsis, Increased circulating antibody level	ORPHA:319218
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
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, Recurrent bacterial in...	ORPHA:51636
Aspergillosis	Unusual CNS infection, Increased circulating IgE level, Invasive pulmonary aspergillosis, Infecti...	ORPHA:1163
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Common Variable Immunodeficiency	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent bronchitis	ORPHA:1572
Proteasome-Associated Autoinflammatory Syndrome 3	Recurrent infections, Increased circulating antibody level	OMIM:617591
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Thymoma	Abnormal lymphocyte physiology, Decreased circulating antibody level, Abnormal lymphocyte prolife...	ORPHA:99867
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Severe infection	OMIM:304790
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Recurrent infections, Recurrent respiratory infections	ORPHA:2314
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent bronchopulmonary infections, ...	OMIM:617303
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration	ORPHA:449427
Hyper-Igd Syndrome	Recurrent infections, Molluscum contagiosum, Increased circulating IgA level, Increased circulati...	OMIM:260920
Postinfectious Vasculitis	Recurrent mycobacterial infections, Abnormality of humoral immunity, Invasive fungal infection, P...	ORPHA:48435
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Increased circulating IgG level, Increas...	ORPHA:2298
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Congenital Disorder Of Glycosylation, Type Iil	Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impaired T cell func...	OMIM:614576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Recurrent respiratory infections	OMIM:615508
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Recurrent infections, Decreased circulating antibody level	OMIM:242900
Coccidioidomycosis	Unusual CNS infection, Invasive fungal infection, Coccidioidal meningitis, Increased circulating ...	ORPHA:228123
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai...	ORPHA:79329
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ...	OMIM:256040
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Cowden Syndrome 1	Recurrent infections, Decreased circulating antibody level	OMIM:158350
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Decreased circulating antibody level	OMIM:616084
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:248500
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:208900
Cystic Echinococcosis	Invasive parasitic infection, Unusual infection, Increased circulating antibody level	ORPHA:400
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level	ORPHA:79078
Diarrhea 10, Protein-Losing Enteropathy Type	Recurrent upper respiratory tract infections, Decreased circulating antibody level	OMIM:618183
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:613385
Lipodystrophy, Congenital Generalized, Type 4	Recurrent infections, Decreased circulating IgA level, Recurrent pneumonia	OMIM:613327
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane...	OMIM:242840
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent infections, Decreased circulating antibody level, Sepsis	ORPHA:79396
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect...	OMIM:251260
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Primary Biliary Cholangitis	Recurrent fungal infections, Increased circulating IgA level, Onychomycosis, Increased circulatin...	ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Recurrent gastroenteritis, ...	ORPHA:505248
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Brucellosis	Increased circulating IgG level, Increased circulating IgM level, Infectious encephalitis	ORPHA:1304
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l...	ORPHA:3132
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent gastro...	ORPHA:99843
Japanese Encephalitis	Meningitis, Infectious encephalitis, Increased circulating IgM level, Increased circulating antib...	ORPHA:79139
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Recurrent otitis media, Recurrent sinusitis, Recurrent infections, D...	OMIM:615688
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Increased circulating antibo...	ORPHA:1560
Q Fever	Unusual infection, Infectious encephalitis, Increased circulating antibody level, Meningitis, Cry...	ORPHA:781
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent infections, Recurrent respiratory infections	OMIM:618278
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
Autoimmune Polyendocrinopathy Type 4	Decreased circulating antibody level	ORPHA:227990
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent infections, Sepsis, Increased circulating IgE level, Recurrent gastroenteritis, Meningi...	ORPHA:37042
Gaucher Disease Type 3	Recurrent respiratory infections, Increased circulating antibody level	ORPHA:77261
Dubowitz Syndrome	Recurrent infections, Decreased circulating IgG level, 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
Trichinellosis	Increased circulating IgE level, Meningitis	ORPHA:863
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:147060
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Trichothiodystrophy	Recurrent bronchopulmonary infections, Recurrent infections, Panhypogammaglobulinemia	ORPHA:33364
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Autoimmune Polyendocrinopathy Type 3	Decreased circulating antibody level	ORPHA:227982
Primary Sjögren Syndrome	Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir...	ORPHA:289390
Hennekam Syndrome	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:2136
Syndromic Diarrhea	Recurrent infections, Panhypogammaglobulinemia	ORPHA:84064
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Reduced circulating complement concentration, Increased circulat...	ORPHA:470
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Trichohepatoenteric Syndrome 1	Decreased circulating antibody level	OMIM:222470
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
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level	OMIM:619472
Yellow Fever	Increased circulating interleukin 6 concentration, Increased circulating IgM level, Opportunistic...	ORPHA:99829
Aicardi-Goutieres Syndrome 7	Recurrent lower respiratory tract infections, Increased circulating antibody level	OMIM:615846
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM	ORPHA:171
Thrombocytopenia-Absent Radius Syndrome	Decreased circulating antibody level	OMIM:274000
Gaucher Disease	Polyclonal elevation of IgM, Increased circulating antibody level	ORPHA:355
Sponastrime Dysplasia	Recurrent pneumonia, Decreased circulating antibody level	ORPHA:93357
Marburg Hemorrhagic Fever	Severe infection, Increased circulating antibody level	ORPHA:99826
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Recurrent infections, Secretory IgA deficiency	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.

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MGI Allele	Allele Type	Produced
Mbl1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Mbl1^{tm257793(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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