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Gene: Ifit2 MGI:99449

Gene Summary

Name:

interferon-induced protein with tetratricopeptide repeats 2

Synonyms:

Ifi54

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.

No results meet the p-value threshold

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Viewing: all phenotypes

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 Ifit2 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 Ifit2 (0 diseases)
Human diseases predicted to be associated with Ifit2 (436 diseases)

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

The table below shows human diseases predicted to be associated to Ifit2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir...	OMIM:618944
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level	OMIM:242870
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Kimura Disease	Increased circulating IgE level	ORPHA:482
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Increased circulating IgG level	OMIM:618982
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul...	OMIM:615513
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dysphagia, Impulsivity	OMIM:620448
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Rabies	Vocal cord paresis, Cerebral palsy, Anorexia, Paresthesia, Attention deficit hyperactivity disord...	ORPHA:770
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Spasticity, Aggressive behavior, Hyperactivity	OMIM:615493
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Spasticity, Aggressive behavior, Hyperactivity	ORPHA:356996
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista...	ORPHA:101108
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:619707
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Spinocerebellar Ataxia 37	Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c...	OMIM:300400
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:613502
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia	ORPHA:318
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec...	OMIM:618534
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins...	OMIM:613908
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,...	OMIM:613493
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:620532
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia	OMIM:276880
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function	ORPHA:277
Hereditary Butyrylcholinesterase Deficiency	Paralysis, Chronic infection	ORPHA:132
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM	OMIM:613500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Immunodeficiency 62	Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,...	OMIM:618459
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle...	ORPHA:319552
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia, Recurrent infections	ORPHA:210128
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Spinocerebellar Ataxia, Autosomal Recessive 25	Truncal ataxia, Babinski sign, Dysmetria, Ataxia	OMIM:617584
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Gait disturbance, Bradykinesia, Dysphagia, Dysdiadochokinesis	ORPHA:228169
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 18	Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ...	OMIM:615615
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Ataxia	OMIM:619191
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:612692
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Agitation, Clumsiness, Aggressive behavior, ...	ORPHA:100973
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos...	ORPHA:71277
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619752
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis, Paresthesia	OMIM:612740
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Decreased circulating IgG level	OMIM:620603
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre...	ORPHA:169154
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu...	OMIM:308240
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Paralysis, Distal sensory impairment	OMIM:613710
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:618394
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:620282
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia	OMIM:615924
Hartnup Disorder	Attention deficit hyperactivity disorder, Hyperactivity, Hypertonia, Episodic ataxia	OMIM:234500
Acute Lung Injury	Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s...	ORPHA:178320
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Athetosis, Dysphagia	OMIM:300857
Hereditary Neuropathy With Liability To Pressure Palsies	Paresthesia, Vocal cord paralysis	ORPHA:640
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Dysphagia	ORPHA:284271
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Chorea, Abnormality of extrapyramidal motor function, Aggressive behavio...	ORPHA:382
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Spinocerebellar Ataxia 44	Spasticity, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance, Hyperactivity	OMIM:618090
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:619281
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619510
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Disinh...	ORPHA:43
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti...	OMIM:240500
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ...	ORPHA:99947
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level	OMIM:616005
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Paralysis, Distal sensory impairment	OMIM:605285
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 96	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619774
Acute Peripheral Arterial Occlusion	Paralysis, Paresthesia, Impaired distal tactile sensation	ORPHA:90064
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra...	ORPHA:500180
Proteasome-Associated Autoinflammatory Syndrome 2	Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level	OMIM:618048
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Lethal Congenital Contracture Syndrome 7	Paralysis, Oral-pharyngeal dysphagia	OMIM:616286
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ...	ORPHA:74
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Juvenile Huntington Disease	Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Hyperactivity, Ataxia, Bradykinesia, ...	ORPHA:248111
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Hand paresthesia, Vocal cord paralysis	OMIM:162500
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Immunodeficiency 112	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620449
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level...	OMIM:612783
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM	OMIM:243700
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Parkinsonism	OMIM:105500
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607594
Variegate Porphyria	Paralysis	OMIM:176200
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Immunodeficiency 23	Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level	OMIM:615816
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Distal sensory impairment, Oral-pharyngeal dysphagia	OMIM:616287
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac...	OMIM:606367
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615758
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,...	OMIM:618213
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level	OMIM:304790
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:301081
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Aspergillosis	Increased circulating IgE level	ORPHA:1163
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:276
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy	ORPHA:230800
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Difficulty walking, Gait ataxia, Distal sensory impairment,...	OMIM:614895
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve...	OMIM:102700
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant...	OMIM:613496
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Abnormality of tumor necrosis factor secretion, Increased circulating ferritin c...	ORPHA:540
Hypokalemic Periodic Paralysis	Respiratory paralysis, Paralysis, Periodic hypokalemic paresis	ORPHA:681
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir...	OMIM:301082
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level	ORPHA:2314
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen...	OMIM:620514
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:620632
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level	OMIM:618752
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:169160
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Pgm3-Cdg	Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re...	ORPHA:443811
Lead Poisoning	Increased circulating IgE level, Abnormality of humoral immunity	ORPHA:330015
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin...	ORPHA:3261
Purine Nucleoside Phosphorylase Deficiency	Spasticity, Spastic paraparesis, Cerebral palsy, Recurrent respiratory infections, Abnormal centr...	ORPHA:760
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Increased circulating IgE level, Increased circulating IgA level	OMIM:620565
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Laryngeal Abductor Paralysis	Dysphagia, Vocal cord paralysis	OMIM:150260
Familial Cervical Artery Dissection	Paralysis, Paresthesia	ORPHA:36382
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Increased circulating IgM level	OMIM:617303
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Decreased circulating complement C4 concentration, Reduced ...	OMIM:615559
Machado-Joseph Disease Type 1	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276241
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612782
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:331206
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ...	OMIM:301000
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Sweet Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:3243
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level	OMIM:226990
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Foodborne Botulism	Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy	ORPHA:228371
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra...	ORPHA:85435
Trichinellosis	Increased circulating IgE level	ORPHA:863
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Gm2-Gangliosidosis, Ab Variant	Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet...	OMIM:272750
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Recurrent respiratory infections, Gait imbalance, Ankle clonus, Clumsiness...	OMIM:211530
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hyperactivity, Hyper...	OMIM:610217
Poliomyelitis	Fasciculations, Inability to walk, Paresthesia, Infectious encephalitis, Hyperkinetic movements, ...	ORPHA:2912
Snakebite Envenomation	Respiratory paralysis, Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis	ORPHA:449285
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Machado-Joseph Disease Type 3	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276244
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c...	ORPHA:297
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Interstitial Cystitis	Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre...	ORPHA:37202
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level	ORPHA:37042
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level	ORPHA:505248
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Glioblastoma	Paralysis	ORPHA:360
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level	ORPHA:79078
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level	ORPHA:186
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Tularemia	Increased circulating antibody level	ORPHA:3392
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Increased circulating ferritin concentration, Hyp...	ORPHA:158057
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Amyotrophic Lateral Sclerosis	Spasticity, Fasciculations, Babinski sign, Paralysis, Dysphagia, Agitation	ORPHA:803
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Congenital Myopathy 15	Vocal cord paralysis, Waddling gait	OMIM:620161
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral...	ORPHA:79124
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ...	ORPHA:35078
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Vocal cord paralysis	OMIM:615490
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati...	OMIM:618986
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Hyperkalemic Periodic Paralysis	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, Gait disturbance, H...	ORPHA:682
Waldenström Macroglobulinemia	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:33226
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614700
Paramyotonia Congenita Of Von Eulenburg	Dysphagia, Periodic hypokalemic paresis	ORPHA:684
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Increased circulating IgG level, Increas...	ORPHA:2298
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration	ORPHA:85410
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration	ORPHA:449427
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre...	ORPHA:221139
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis, Paresthesia	OMIM:176000
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Inhalational Botulism	Paralysis	ORPHA:254504
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM	ORPHA:171
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t...	OMIM:300972
Gitelman Syndrome	Polydipsia, Paresthesia, Paralysis, Salt craving, Ataxia	OMIM:263800
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Hyperbilirubinemia, Increased serum bile acid con...	ORPHA:69665
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Yellow Fever	Increased circulating interleukin 6 concentration, Increased circulating IgM level	ORPHA:99829
Scleromyxedema	Paraproteinemia	ORPHA:167635
Gaucher Disease	Polyclonal elevation of IgM, Increased circulating antibody level	ORPHA:355
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Trem...	ORPHA:99956
Anaplastic Thyroid Carcinoma	Dysphagia, Vocal cord paralysis	ORPHA:142
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dysphagia, Spasticity, Myoclonus, Vocal cord paralysis	ORPHA:500144
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:90363
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased specific pneumococcal antibody level, Decreased circul...	ORPHA:183675
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Gait ataxia, Babinski sign, Vocal cord paralysis, Dysphagia, Dysesth...	ORPHA:268882
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level	OMIM:619472
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Encephalocraniocutaneous Lipomatosis	Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia	ORPHA:2396
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia	ORPHA:79102
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis	ORPHA:37553
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:79329
Intellectual Developmental Disorder, Autosomal Dominant 54	Inability to walk, Bruxism, Hyperkinetic movements, Aggressive behavior, Lower limb spasticity, V...	OMIM:617799
Selective Igm Deficiency	Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total...	ORPHA:331235
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Aregenerative Anemia	Abnormal circulating interleukin concentration	ORPHA:101096
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Mevalonic Aciduria	Increased circulating IgD level	OMIM:610377
Ataxia-Telangiectasia	Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio...	OMIM:208900
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia	OMIM:203700
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Q Fever	Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l...	ORPHA:3132
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Broad-based gait, Abnormal temper tantrums, Limb ataxia, Paralysis, Oculomoto...	ORPHA:2072
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
African Trypanosomiasis	Involuntary movements, Somatic sensory dysfunction, Fasciculations, Difficulty walking, Abnormal ...	ORPHA:3385
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Vici Syndrome	Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula...	OMIM:242840
Autoinflammatory Disease, Systemic, With Vasculitis	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:620376
Postinfectious Vasculitis	Abnormality of humoral immunity, Increased circulating IgA level, Cryoglobulinemia, Increased cir...	ORPHA:48435
Distal Renal Tubular Acidosis	Paralysis, Polydipsia	ORPHA:18
Primary Sjögren Syndrome	Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir...	ORPHA:289390
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre...	OMIM:619381
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Gitelman Syndrome	Paralysis, Salt craving, Paresthesia, Polydipsia	ORPHA:358
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level	OMIM:615846
Pineoblastoma	Paralysis	ORPHA:251909
Lysinuric Protein Intolerance	Reduced circulating complement concentration, Abnormality of humoral immunity, Decreased circulat...	ORPHA:470
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level	OMIM:618278
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Marburg Hemorrhagic Fever	Increased circulating antibody level	ORPHA:99826
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor	ORPHA:91347
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150

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 Ifit2

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 Ifit2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ifit2 deficiency restricts microglial activation and leukocyte migration following murine coronavirus (m-CoV) CNS infection.	PLoS pathogens (November 2020)	Ifit2^{tm1(KOMP)Vlcg}	PMC7738193

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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.

MGI Allele	Allele Type	Produced
Ifit2^{tm292778(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ifit2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

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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