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Gene: Rif1 MGI:1098622

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
replication timing regulatory factor 1
Synonyms:
6530403D07Rik,  5730435J01Rik,  D2Ertd145e

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 Rif1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Rif1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Transcobalamin Deficiency
Lymphopenia, Abnormality of chromosome stability, Pancytopenia, Decreased circulating antibody le... ORPHA:859
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 44
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... OMIM:616636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Complement Component 6 Deficiency
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... OMIM:612446
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... OMIM:610102
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Complement Factor D Deficiency
Recurrent bacterial infections, Partial functional complement factor D deficiency OMIM:613912
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... ORPHA:98813
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration OMIM:613789
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, R... ORPHA:169160
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Immunodeficiency 51
Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe... OMIM:613953
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota... OMIM:619510
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr... OMIM:615577
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... OMIM:615592
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Decreased circulatin... OMIM:618261
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... OMIM:618282
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 25
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... OMIM:618987
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Leukocytosis, Decreased proportion of cla... OMIM:619652
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Griscelli Syndrome, Type 2
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... OMIM:607624
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... OMIM:616100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... OMIM:619752
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... OMIM:619220
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Hepatosplenom... OMIM:618982
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 48
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... OMIM:269840
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Persisten... OMIM:620282
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... OMIM:606367
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In... OMIM:616098
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Immunodeficiency 22
Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to... OMIM:615758
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Recurrent infections, Decreased circulating antibody level ORPHA:99811
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... ORPHA:572
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Liver abs... ORPHA:183675
Complement Factor H Deficiency
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... OMIM:609814
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Decreased circulating complement C3 concentr... OMIM:613779
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... OMIM:614700
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:615767
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Decreased p... OMIM:618048
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopeni... OMIM:601457
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells OMIM:619693
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ... OMIM:212050
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Activated Pi3K-Delta Syndrome
Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Decreased circulating ant... ORPHA:397596
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent i... OMIM:616576
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Recurrent pneumon... OMIM:615122
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Primary Intestinal Lymphangiectasia
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating... ORPHA:90362
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul... OMIM:617638
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal natural killer cell physiolo... OMIM:613101
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ... OMIM:615468
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti... OMIM:615559
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616910
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... ORPHA:33355
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Thrombocytopenia, Decreased circulating antibody level, Leukope... OMIM:618116
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Lymphangiectasia, Intestinal
Lymphopenia, Stillbirth, Decreased circulating IgG level OMIM:152800
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... OMIM:620040
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased circulating antibod... OMIM:301045
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent infectio... OMIM:300635
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Decreased circulating complement factor B concentrati... OMIM:615561
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Increased c... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... ORPHA:911
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren... OMIM:615207
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Pure r... OMIM:613179
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Splenomegaly, ... OMIM:620210
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Recurrent uppe... OMIM:210900
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level OMIM:618042
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract infections, Decr... OMIM:607143
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... OMIM:300972
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Riddle Syndrome
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Chromosomal bre... ORPHA:420741
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Ataxia-Telangiectasia
Recurrent respiratory infections, Abnormality of chromosome stability, Lymphopenia, Decreased cir... ORPHA:100
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent... ORPHA:125
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... ORPHA:2268
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Recurrent bronchitis, Acute lymphoblastic leukemia,... OMIM:208900
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Complement Component 5 Deficiency
Recurrent Neisserial infections, Decreased circulating complement C5 concentration, Reduced hemol... OMIM:609536
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... OMIM:301078
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia ORPHA:100025
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Myeloma, Multiple
Paraproteinemia OMIM:254500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin... OMIM:613385
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,... OMIM:615816
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Complement Factor I Deficiency
Recurrent urinary tract infections, Decreased circulating complement factor B concentration, Recu... OMIM:610984
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level OMIM:613327
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Hereditary Folate Malabsorption
Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,... ORPHA:90045
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:602450
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... OMIM:301000
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... ORPHA:90363
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Patent ductus arterios... OMIM:620005
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Recu... ORPHA:353298
Angiostrongyliasis
Increased circulating IgA level, Unusual CNS infection, Hypereosinophilia, Increased circulating ... ORPHA:74
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia, ... ORPHA:33110
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:615952
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Increased circulating IgA level, Recurrent infections, Increase... OMIM:615934
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Recurrent pneumonia, Decreased circulating antibody level OMIM:619750
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... OMIM:256500
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Monosomy 18Q
Patent ductus arteriosus, Decreased circulating IgA level ORPHA:1600
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Recurrent i... OMIM:619381
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... OMIM:608233
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Recurrent infections, Neutropenia, Increased circulating IgA level OMIM:616395
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... OMIM:223370
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Agammaglobu... ORPHA:47
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Trichothiodystrophy
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Defec... ORPHA:33364
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgA level ORPHA:369837
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level, Severe infection ORPHA:206594
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... ORPHA:634
Macrocephaly/Autism Syndrome
Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,... OMIM:605309
Fanconi Anemia, Complementation Group C
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropen... OMIM:227645
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosi... OMIM:226300
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Alg12-Cdg
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... ORPHA:79324
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Recurrent infections, ... OMIM:260920
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... ORPHA:540
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S... ORPHA:169090
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... ORPHA:1493
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Recurrent viral i... OMIM:242840
Postinfectious Vasculitis
Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost... ORPHA:48435
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... OMIM:612840
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Fanconi Anemia, Complementation Group D2
Pancytopenia, Thrombocytopenia, Patent ductus arteriosus, Reticulocytopenia, Anemia, Bone marrow ... OMIM:227646
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Fanconi Anemia, Complementation Group E
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... OMIM:600901
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib... OMIM:248500
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Fanconi Anemia, Complementation Group A
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... OMIM:227650
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar... ORPHA:293978
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Recurrent infections, Eosinophilia, Decreased circulating antibody level OMIM:617425
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Recurr... OMIM:242900
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti... ORPHA:167
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Decreased specifi... OMIM:614576
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia ORPHA:935
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, De... ORPHA:1572
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... ORPHA:99867
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... OMIM:612541
Hypocomplementemic Urticarial Vasculitis
Complement deficiency, Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Primary Biliary Cholangitis
Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin... ORPHA:186
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... ORPHA:79329
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Patent ductus arteriosus, Sepsis, Recurrent... OMIM:617053
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, ... OMIM:618278
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocyt... OMIM:251260
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... ORPHA:508533
Cowden Syndrome 1
Lymphopenia, Recurrent infections, Decreased circulating antibody level OMIM:158350
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Recurrent infections, Decreased circulating antibody le... OMIM:615688
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Polycythemi... ORPHA:2968
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Neutrophilia, Microcytic anem... ORPHA:99843
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Lysinuric Protein Intolerance
Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Abnormality of humora... ORPHA:470
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, Decreased circ... ORPHA:227990
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Sepsis, Hepatosplen... ORPHA:505248
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent infections, Sepsis, Anemia, Decreased circulating antibody level ORPHA:79396
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Rift Valley Fever
Thrombocytopenia, Severe viral infection, Increased circulating IgG level, Increased circulating ... ORPHA:319251
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, Decreased circ... ORPHA:227982
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Increas... ORPHA:2298
Diarrhea 10, Protein-Losing Enteropathy Type
Recurrent upper respiratory tract infections, Decreased circulating antibody level OMIM:618183
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Patent ductus arteriosus OMIM:618162
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Recurrent infections OMIM:601675
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Viss Syndrome
Patent ductus arteriosus, Increased circulating IgE level, Hypereosinophilia, Increased circulati... OMIM:619472
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Recurrent infections, Hyp... ORPHA:84064
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Tick-Borne Encephalitis
Meningitis, Leukocytosis, Unusual CNS infection, Increased circulating IgG level, Increased circu... ORPHA:297
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Neutropenia, Anemia, Decreased circulating antibody level ORPHA:175
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Primary Sjögren Syndrome
Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased circulating ant... ORPHA:289390
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Recurrent bacterial infections, Leukocytosis, Anemia OMIM:615895
Chromomycosis
Recurrent bacterial infections ORPHA:182
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... ORPHA:171
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Hennekam Syndrome
Splenomegaly, Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level ORPHA:2136
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level OMIM:222470
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Coccidioidomycosis
Coccidioidal meningitis, Abscess, Eosinophilia, Invasive fungal infection, Abnormality of the spl... ORPHA:228123
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Decreased circu... OMIM:274000
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Increas... ORPHA:1304
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Glycogen Storage Disease Ib
Splenomegaly, Recurrent bacterial infections, Neutropenia OMIM:232220
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Anemia, Decreased circulating antibody level ORPHA:247598
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom... ORPHA:91500
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase... ORPHA:99827
Sponastrime Dysplasia
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level ORPHA:93357
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Decreased circulating IgG level, Secretory IgA defi... ORPHA:500150
Hereditary Sensory And Autonomic Neuropathy Type 4
Abscess, Abnormality of humoral immunity, Recurrent Staphylococcus aureus infections, Tooth absce... ORPHA:642
Mowat-Wilson Syndrome
Asplenia, Patent ductus arteriosus, Recurrent infections, Decreased circulating antibody level, R... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Recurrent infections, Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Patent ductus arteriosus, Recurrent infections, Decreased circulating antibody level, R... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rif1

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 Rif1.

No publications found that use IMPC mice or data for Rif1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Rif1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rif1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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