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Gene: Ccdc171 MGI:1922152

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

coiled-coil domain containing 171

Synonyms:

A330015D16Rik, 4930473A06Rik, 4930418J05Rik

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 Ccdc171 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 Ccdc171 (0 diseases)
Human diseases predicted to be associated with Ccdc171 (325 diseases)

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

The table below shows human diseases predicted to be associated to Ccdc171 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm...	OMIM:617514
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega...	OMIM:603909
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Increased circulating IgM level, Splenomegaly, Decreased circulating antibody ...	ORPHA:397596
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo...	OMIM:618261
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho...	ORPHA:277
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev...	OMIM:242860
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na...	OMIM:619802
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph...	ORPHA:169160
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618986
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	OMIM:612783
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:620532
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Inc...	OMIM:617303
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec...	OMIM:601495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi...	OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	ORPHA:436159
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion...	ORPHA:90362
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr...	ORPHA:505248
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Rift Valley Fever	Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:319251
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po...	OMIM:304790
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Japanese Encephalitis	Neutrophilia, Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos...	ORPHA:275
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In...	OMIM:617388
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,...	ORPHA:1304
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Primary Biliary Cholangitis	Increased circulating IgA level, Splenomegaly, Increased circulating IgM level	ORPHA:186
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc...	ORPHA:228123
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Leukemia, Abnormality o...	ORPHA:33226
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci...	ORPHA:79078
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level	ORPHA:319218
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu...	OMIM:615934
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Prolidase Deficiency	Anemia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level	OMIM:170100
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	OMIM:617591
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level	ORPHA:723
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Paraproteinemia, Decreased propo...	ORPHA:331235
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased...	OMIM:612301
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c...	ORPHA:99827
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto...	ORPHA:79330
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocyt...	OMIM:620565
Gaucher Disease	Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,...	ORPHA:355
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Yellow Fever	Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 concentration, ...	ORPHA:99829
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly	ORPHA:171
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased circulating antibody level...	ORPHA:293978
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Gaucher Disease Type 1	Splenic infarction, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, In...	ORPHA:77259
Autoimmune Hepatitis	Increased circulating IgG level, Splenomegaly, Increased circulating antibody level	ORPHA:2137
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A...	ORPHA:125
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Decreased circula...	ORPHA:90363
Cystic Echinococcosis	Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia	ORPHA:400
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased...	ORPHA:29073
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, In...	OMIM:260920
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom...	OMIM:620376
Bloom Syndrome	Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Decreased circulating...	OMIM:210900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia	OMIM:307200
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Increased c...	OMIM:610377
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:613385
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	OMIM:619381
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decreased circul...	ORPHA:183675
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology...	ORPHA:284
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Q Fever	Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytopen...	ORPHA:781
Primary Sjögren Syndrome	Normocytic anemia, Reduced circulating complement concentration, Lymphopenia, Decreased circulati...	ORPHA:289390
Poems Syndrome	Splenomegaly, Thrombocytosis, Polycythemia, Increased circulating antibody level	ORPHA:2905
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemi...	ORPHA:37042
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Al Amyloidosis	Anemia, Howell-Jolly bodies, Increased circulating antibody level	ORPHA:85443
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Scleromyxedema	Paraproteinemia	ORPHA:167635
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis	OMIM:212065
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc...	OMIM:251260
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level, Splenomegaly	OMIM:613327
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Leukopenia, Increased circulating IgA le...	ORPHA:2298
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ...	ORPHA:470
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Aicardi-Goutieres Syndrome 7	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Hemol...	OMIM:615846
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A...	OMIM:223370
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating interferon-gam...	ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Postinfectious Vasculitis	Abnormality of humoral immunity, Increased circulating IgA level, Cryoglobulinemia, Increased cir...	ORPHA:48435
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level	OMIM:181000
Trichinellosis	Increased circulating IgE level	ORPHA:863
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Splenomegaly, Polysplenia	ORPHA:373
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess for...	OMIM:147060
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472

Histopathology

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

There is no histopathology data for Ccdc171

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 Ccdc171.

No publications found that use IMPC mice or data for Ccdc171.

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MGI Allele	Allele Type	Produced
Ccdc171^{tm38(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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