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Gene: Klra8 MGI:102968

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

killer cell lectin-like receptor, subfamily A, member 8

Synonyms:

Ly49u¹²⁹, Cmv-1, Ly49h, Cmv1

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 Klra8 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 Klra8 (0 diseases)
Human diseases predicted to be associated with Klra8 (356 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Klra8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Histiocytosis, Familial Lipochrome	Recurrent infections, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunoglobulin A Deficiency 1	Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina...	OMIM:137100
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in...	OMIM:613494
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Recurrent sinop...	OMIM:615513
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Recurrent otitis media, Recurrent lower respiratory tract infections, Rec...	OMIM:619220
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin...	OMIM:609529
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
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
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat...	OMIM:618944
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections	OMIM:606445
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Complete or near-complete a...	OMIM:615401
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,...	OMIM:613493
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections	OMIM:610798
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio	OMIM:616941
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob...	OMIM:619707
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c...	OMIM:618459
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr...	OMIM:619773
Immunodeficiency 50	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i...	OMIM:300988
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C...	ORPHA:98813
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Decreased circulating IgA level, Abnormal circu...	OMIM:616636
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect...	OMIM:614102
Immunodeficiency 18	Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente...	OMIM:615615
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	OMIM:618534
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t...	OMIM:613495
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Severe cytom...	ORPHA:397596
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:618987
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob...	OMIM:300400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Recurrent ot...	OMIM:618982
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Decreased circulating antibody level, Infectiou...	OMIM:308240
Immunodeficiency 11A	Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati...	OMIM:615206
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
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
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g...	OMIM:308230
Immunodeficiency 112	Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B...	OMIM:620449
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:240500
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Chronic tinea infection, Increased circulating IgE leve...	OMIM:212050
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 15B	Decreased lymphocyte proliferation in response to mitogen, Agammaglobulinemia, Recurrent infectio...	OMIM:615592
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent respiratory infections, Recurrent infections, Panhypogammaglobulinemia	OMIM:615214
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,...	OMIM:613501
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Infectious encephalitis	OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 96	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti...	OMIM:619774
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr...	OMIM:614069
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections	OMIM:233650
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Decreased specific antibody response to polysac...	OMIM:241600
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:607594
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Disseminated molluscum contagiosum, Severe cytomegalovirus infec...	OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Decreased serum creatinine,...	OMIM:617744
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level...	OMIM:616873
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ...	OMIM:619281
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Immunodeficiency 27A	Hypoalbuminemia, Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:615767
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 70	Decreased circulating total IgG, Recurrent sinusitis, Decreased circulating total IgM, Decreased ...	OMIM:618969
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Decreased circulating IgA level, Defective T cell pr...	OMIM:617514
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Meningitis, Decreased circulating antibody level, Chr...	OMIM:616740
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	ORPHA:2643
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Recurrent infections, Increased circulating antibody level	OMIM:615285
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Immunodeficiency 102	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ...	OMIM:301082
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
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni...	ORPHA:277
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia	ORPHA:318
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle...	ORPHA:319552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Increased cir...	OMIM:618495
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Recurrent respiratory infections, Recurrent viral infections	OMIM:620532
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Decreased lymphocyte apoptosis, Recurrent respiratory infections, Increased...	OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent viral infections, Abnormal circulating IgM level, Increased circulating IgA level, Elev...	OMIM:618048
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Bronchiolitis, Recurrent sinopu...	OMIM:614878
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Recurrent infections, Transient hypogammaglobulinemia of infancy	OMIM:251240
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi...	OMIM:620632
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Sepsi...	ORPHA:276
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	OMIM:620210
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent otiti...	OMIM:615559
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to po...	ORPHA:70593
Immunodeficiency 48	Pneumocystis carinii pneumonia, Recurrent respiratory infections, Recurrent candida infections, P...	OMIM:269840
Angiostrongyliasis	Unusual CNS infection, Increased circulating specific IgE antibody, Increased circulating IgA lev...	ORPHA:74
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level	OMIM:615872
Lassa Fever	Increased circulating IgM level, Sepsis	ORPHA:99824
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ...	ORPHA:169154
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Intraalveolar phospholipi...	OMIM:618042
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections	ORPHA:169079
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis	OMIM:616069
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections, Recurrent infection...	OMIM:616576
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinopulmonary infecti...	OMIM:618394
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant Staphylococcus aure...	OMIM:618282
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Increased circul...	OMIM:243700
Zika Virus Disease	Meningitis, Increased circulating IgM level, Infectious encephalitis	ORPHA:448237
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level, Recurrent sinopulmonary ...	OMIM:619846
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM...	OMIM:619510
Immunodeficiency 67	Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a...	OMIM:607676
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Decreased ...	OMIM:616100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:331206
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Recurrent respiratory infections	OMIM:618523
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
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
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Increased circulating ferritin concentration, Abnor...	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Increased circulating ferritin concentration, Hypertriglyceride...	OMIM:300635
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Decreased circulating antibody ...	OMIM:616910
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurrent respiratory infections, Panhypog...	OMIM:615207
Combined Immunodeficiency, X-Linked	Pneumocystis carinii pneumonia, Decreased circulating IgG level, Recurrent bronchitis	OMIM:312863
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:617099
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ...	ORPHA:329918
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Kimura Disease	Increased circulating IgE level	ORPHA:482
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Decreased circulating IgA level, Decreased circulating ...	OMIM:612782
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Sepsis, EBV menin...	OMIM:615122
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Congenital Disorder Of Glycosylation, Type Iir	Recurrent infections, Decreased circulating antibody level	OMIM:301045
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrom...	OMIM:300755
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Recurrent respiratory infections, Decreased circulating antibody level	OMIM:618116
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:572
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent bronchopulmo...	OMIM:617303
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recu...	ORPHA:86816
Immunodeficiency 32B	Recurrent infections, Hypoalbuminemia, BCGitis, Impaired oxidative burst, Abnormal circulating Ig...	OMIM:226990
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Selective Igm Deficiency	Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot...	ORPHA:331235
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ...	ORPHA:183675
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ...	ORPHA:436159
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections	OMIM:619693
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningiti...	ORPHA:90362
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Recurrent urinary tract infections, Recurrent otitis media, Incr...	OMIM:619802
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Recurrent fungal infections, Increased...	ORPHA:186
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel...	OMIM:606367
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Netherton Syndrome	Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ...	OMIM:256500
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen...	OMIM:620514
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:301081
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level, Severe viral infection, Infecti...	ORPHA:319251
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Tick-Borne Encephalitis	Unusual CNS infection, Abnormal circulating cytokine concentration, Meningitis, Elevated circulat...	ORPHA:297
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Recurrent ...	ORPHA:505248
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level	OMIM:618752
Pneumocystosis	Pneumocystis jirovecii pneumonia, Chronic oral candidiasis, Increased circulating antibody level	ORPHA:723
Netherton Syndrome	Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu...	ORPHA:634
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R...	OMIM:614700
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
Prolidase Deficiency	Recurrent infections, Recurrent pneumonia, Increased circulating antibody level	OMIM:170100
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Increased circulating ferritin concentration, Elevated circulati...	OMIM:613011
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
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral...	ORPHA:79124
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Severe infection	ORPHA:206594
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circulating IgE le...	OMIM:620565
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
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
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia, Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Leishmaniasis	Hypoalbuminemia, Increased circulating antibody level	ORPHA:507
Japanese Encephalitis	Infectious encephalitis, Hyponatremia, Increased circulating antibody level, Meningitis, Increase...	ORPHA:79139
Tularemia	Meningitis, Brain abscess, Increased circulating antibody level	ORPHA:3392
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Increased circulating IgA level, Elevated circulating C-reactiv...	OMIM:615934
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Decreased T cell activation, Defective T cell proliferation, Can...	OMIM:618213
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Decreased ...	ORPHA:221139
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P...	OMIM:307200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Recurrent respiratory infections, Hypernatremia, Hypoalbuminemia	OMIM:615508
Postinfectious Vasculitis	Recurrent mycobacterial infections, Abnormality of humoral immunity, Invasive fungal infection, P...	ORPHA:48435
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Decreased ...	OMIM:612301
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Autoinflammation With Arthritis And Dyskeratosis	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	OMIM:617388
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Hereditary Folate Malabsorption	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i...	ORPHA:90045
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Recurrent bacterial inf...	OMIM:300972
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level	ORPHA:83600
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Elevated circulating C-reactive protein concentration	ORPHA:2902
Waldenström Macroglobulinemia	Recurrent infections, Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:33226
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Proteasome-Associated Autoinflammatory Syndrome 3	Recurrent infections, Hypertriglyceridemia, Increased circulating antibody level	OMIM:617591
Riddle Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased circu...	ORPHA:420741
Ebola Hemorrhagic Fever	Sepsis, Increased circulating antibody level	ORPHA:319218
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Increased circulating IgA level	OMIM:616395
Yellow Fever	Opportunistic infection, Elevated circulating creatinine concentration, Hyperbilirubinemia, Eleva...	ORPHA:99829
Wiskott-Aldrich Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased specific anti-polysa...	OMIM:301000
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Hypocholesterolemia...	ORPHA:79324
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:275350
Coccidioidomycosis	Unusual CNS infection, Invasive fungal infection, Coccidioidal meningitis, Increased circulating ...	ORPHA:228123
Pgm3-Cdg	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent r...	ORPHA:443811
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Recurrent infections, Recurrent respiratory infections	ORPHA:2314
Hyper-Igd Syndrome	Recurrent infections, Molluscum contagiosum, Increased circulating IgA level, Increased circulati...	OMIM:260920
Aspergillosis	Unusual CNS infection, Increased circulating IgE level, Invasive pulmonary aspergillosis, Infecti...	ORPHA:1163
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level	ORPHA:79078
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Decreased circulating IgA level, Elevated circulating creatine kinase concen...	OMIM:613327
Bloom Syndrome	Decreased circulating IgG level, Severe varicella zoster infection, Recurrent tonsillitis, Recurr...	ORPHA:125
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis fa...	ORPHA:158061
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Good Syndrome	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent urinary tract i...	ORPHA:169105
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra...	ORPHA:85435
Multiple Myeloma	Elevated circulating creatinine concentration, Increased circulating IgA level, Increased circula...	ORPHA:29073
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Increased circulating ferritin concentration, Hyp...	ORPHA:158057
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Severe infection	OMIM:304790
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:210900
Brucellosis	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Mevalonic Aciduria	Recurrent infections, Increased circulating IgD level, Elevated circulating C-reactive protein co...	OMIM:610377
Cystic Echinococcosis	Invasive parasitic infection, Unusual infection, Hyperbilirubinemia, Increased circulating antibo...	ORPHA:400
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:208900
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Autoimmune Hepatitis	Increased circulating IgG level, Increased total bilirubin, Increased circulating antibody level	ORPHA:2137
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:613385
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Primary Sclerosing Cholangitis	Hypoalbuminemia, Polyclonal elevation of IgM	ORPHA:171
Scleromyxedema	Paraproteinemia, Elevated circulating creatine kinase concentration	ORPHA:167635
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent infections, Hypoalbuminemia, Sepsis, Hypomagnesemia, Increased circulating IgE level, A...	ORPHA:37042
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	OMIM:606002
Gaucher Disease	Increased circulating ferritin concentration, Increased circulating antibody level, Polyclonal el...	ORPHA:355
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating...	OMIM:619381
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin...	ORPHA:3261
Aapoaiv Amyloidosis	Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Intraalveolar phospholipid accumulation, Increased circulating f...	ORPHA:470
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Sweet Syndrome	Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, E...	ORPHA:3243
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level, Elevated circulating creatine k...	ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ...	OMIM:256040
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620005
Al Amyloidosis	Hypoalbuminemia, Increased circulating NT-proBNP concentration, Increased circulating antibody level	ORPHA:85443
Gaucher Disease Type 1	Elevated circulating CCL18 level, Decreased HDL cholesterol concentration, Increased circulating ...	ORPHA:77259
Q Fever	Unusual infection, Infectious encephalitis, Increased circulating antibody level, Meningitis, Cry...	ORPHA:781
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Increased circulating antibo...	ORPHA:1560
Gaucher Disease Type 3	Recurrent respiratory infections, Increased circulating antibody level	ORPHA:77261
Lead Poisoning	Increased circulating IgE level, Abnormality of humoral immunity, Increased LDL cholesterol conce...	ORPHA:330015
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration	ORPHA:85410
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Decreased circulating IgA level, Hypocholestero...	OMIM:212065
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Increased circulating IgE level, Reduced circulating com...	ORPHA:449395
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Abnormal circ...	OMIM:620376
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Decreased circulating complement factor B concentration, Hypotriglyceridemia, Ab...	ORPHA:2298
Dubowitz Syndrome	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level, Hypochole...	OMIM:223370
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Hypocalcemia	OMIM:212750
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Elevated circulat...	ORPHA:449427
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:147060
Trichinellosis	Increased circulating IgE level, Meningitis	ORPHA:863
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Hyperbilirubinemia, Increased serum bile acid con...	ORPHA:69665
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Hypercalcemia, Hypertriglycerid...	ORPHA:369837
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Hypocalcemia	ORPHA:64744
Aicardi-Goutieres Syndrome 7	Recurrent lower respiratory tract infections, Increased circulating ferritin concentration, Incre...	OMIM:615846
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Primary Sjögren Syndrome	Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir...	ORPHA:289390
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Increased...	ORPHA:449563
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Elevated ...	ORPHA:91500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level	OMIM:619472

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 Klra8

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 Klra8.

No publications found that use IMPC mice or data for Klra8.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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