Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RAS guanyl releasing protein 1
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Rasgrp1 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.

The table below shows human diseases associated to Rasgrp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Mediastinal lymphadenopathy, Lymphad... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261

The table below shows human diseases predicted to be associated to Rasgrp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Mediastinal lymphadenopathy, Lymphad... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Anti-dsDNA ... OMIM:619375
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to... OMIM:613496
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... ORPHA:277
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal... OMIM:269840
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I... OMIM:619220
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir... OMIM:618495
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Anti-dsDNA antibody positivity, Perinuclear an... OMIM:614420
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Immunodeficiency 27A
Anemia, Lymphadenopathy, Thrombocytosis, Increased circulating IgG level, Salmonella osteomyeliti... OMIM:209950
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Complement Component 3 Deficiency, Autosomal Recessive
Decreased circulating complement C3 concentration, Recurrent tonsillitis, Nephrotic syndrome, Rec... OMIM:613779
Immunodeficiency 102
Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... OMIM:301082
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c... OMIM:308240
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Immune Thrombocytopenia
Thrombocytopenia, Platelet antibody positive OMIM:188030
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infection, Increased ... ORPHA:98813
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Autoimmunity, Sp... OMIM:614470
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Increased circulating antibody level, Lymphadenopathy, Ane... ORPHA:100024
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sc... ORPHA:2137
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Lymphadenopath... ORPHA:444463
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased circulating total IgM, Decreased proportion of CD8-positiv... OMIM:619802
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity ORPHA:60026
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG le... OMIM:620603
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T... OMIM:304790
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis med... OMIM:612783
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, C3 nephritic f... ORPHA:329918
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph... OMIM:608971
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot... OMIM:620210
Primary Membranoproliferative Glomerulonephritis
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:54370
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... OMIM:308230
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Acute kidney injury, Glomerular C3 deposition,... ORPHA:567544
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr... OMIM:617099
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G... OMIM:619858
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocyto... OMIM:152700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... OMIM:618852
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Anti-smooth muscle antibody positivity, Iron deficiency anemia, Rheumatoid factor p... ORPHA:99931
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased circulating IgG leve... OMIM:616100
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:618523
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:242860
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Complement Component 4A Deficiency
Systemic lupus erythematosus, Reduced circulating CH50 activity, Decreased circulating complement... OMIM:614380
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Hemophagocytosis, Elevated circulating ... OMIM:619644
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon... OMIM:618999
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I... ORPHA:83313
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... OMIM:301078
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Aplasia of... OMIM:102700
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... OMIM:617388
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni... OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Autoimmunity, Leukocytosis ORPHA:2902
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Antiphospholipid antibody positivity, Increased circulating IgG level, Malar rash, Increa... OMIM:615934
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased... OMIM:620565
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Bronchiectasis, Absence of l... OMIM:608184
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Iga Pemphigus
Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula... ORPHA:555905
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Lipodystrophy, Partial, Acquired, Susceptibility To
Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me... OMIM:608709
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Inc... ORPHA:400
Thymoma
Aplastic anemia, Myositis, Decreased circulating antibody level, Abnormal lymphocyte physiology, ... ORPHA:99867
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N... ORPHA:37042
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Increased circulating IgG level, Increased circulating IgE level, Cutaneo... OMIM:243700
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 92
Abnormal B cell proliferation, Decreased proportion of class-switched memory B cells, Lymphocytos... OMIM:619652
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia,... OMIM:615122
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Antiphospholipid antibody pos... ORPHA:90280
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:169160
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ... OMIM:618282
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans... OMIM:301045
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased circulating complement C3 concentration ORPHA:79087
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch... ORPHA:562639
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Rheumatoid factor positive, Inc... OMIM:615816
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... ORPHA:90362
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Ne... OMIM:226990
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Abnormality of the kidney, Chronic lymphatic leukemia, Arthritis, Mo... ORPHA:91139
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Skin rash, Thrombocytopenia, S... OMIM:603552
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... OMIM:615387
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau... OMIM:620376
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Schimke Immuno-Osseous Dysplasia
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Mastocytosis,... ORPHA:98848
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Decreased circulating complement C3 concentration, Hematuria, Nephrotic syndrome, Proteinuria, Me... OMIM:613913
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Brucellosis
Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveitis, Myocardi... ORPHA:1304
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocytopenia, Recu... OMIM:150550
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephr... OMIM:616414
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Macrophage Activation Syndrome
Decreased liver function, Systemic lupus erythematosus, Hepatomegaly, Anemia, Lymphadenopathy, He... ORPHA:158061
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Prostatitis, Increased circulating antibody level, Lymphadenopathy, Ab... ORPHA:449432
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Reticular Dysgenesis
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Leukopenia ORPHA:33355
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmunity, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616910
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:114580
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Alopecia Areata 1
Autoimmunity OMIM:104000
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Tularemia
Cervical lymphadenopathy, Pneumonia, Mediastinal lymphadenopathy, Increased circulating antibody ... ORPHA:3392
Myeloma, Multiple
Paraproteinemia OMIM:254500
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... ORPHA:289390
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Hyper-Igd Syndrome
Increased circulating IgA level, Leukocytosis, Increased circulating IgD level, Neutrophilia, Hep... OMIM:260920
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Cheilitis, Hematuria, Lymphadenopathy, Pyuria,... ORPHA:536
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Lysinuric Protein Intolerance
Argininuria, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra... ORPHA:470
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, R... OMIM:105200
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Increased circulating interleukin 6 concentration, Elev... OMIM:614034
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt... ORPHA:100026
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste... ORPHA:411593
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Abnormality of the... ORPHA:29073
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Prolidase Deficiency
Systemic lupus erythematosus, Hepatomegaly, Anemia, Increased circulating antibody level, Eczemat... OMIM:170100
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Elevated circulating hepatic transaminase co... ORPHA:540
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ... OMIM:616050
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Circulating immune compl... ORPHA:2035
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Panhypogammaglobulinemia, Ascites, T lym... ORPHA:79124
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly,... OMIM:611762
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, Anti-glutamic acid decarboxylase antibody positi... OMIM:620044
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Systemic lupu... OMIM:616871
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Unclassified Myelodysplastic Syndrome
Autoimmunity, Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Leukopenia, Dark urine, Lymphopenia, Nephritis, Antinucle... ORPHA:93552
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Aspergillosis
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia ORPHA:1163
Lymphedema, Primary, With Myelodysplasia
Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Pancytopenia OMIM:614038
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... OMIM:616433
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, ... ORPHA:47612
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Elevated circulating... OMIM:617591
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Complement Factor I Deficiency
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... OMIM:610984
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis... ORPHA:85414
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ... ORPHA:2584
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encephalitis ORPHA:42642
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Increased circulating interleukin 8 concentrat... OMIM:620514
Burkitt Lymphoma
Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Psoriasiform... ORPHA:49041
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Stage 5 chroni... OMIM:614376
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... ORPHA:158057
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... OMIM:616622
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M... ORPHA:3226
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Elevated circulating alanine aminotransfer... ORPHA:90003
Lead Poisoning
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe... ORPHA:330015
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Tempi Syndrome
Abnormality of the kidney, Increased circulating IgG level, Ascites, Polycythemia, Increased hema... ORPHA:284227
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I... OMIM:620040
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decr... ORPHA:508533
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia, Increased circulating IgE level ORPHA:2314
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Leukocy... ORPHA:457077
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati... OMIM:300972
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Mucopolysaccharidosis-Plus Syndrome
Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopenia, Leukopeni... OMIM:617303
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Recurrent urinary t... ORPHA:83471
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Postinfectious Vasculitis
Gastrointestinal inflammation, Pneumonia, Hematuria, Increased circulating antibody level, Bacter... ORPHA:48435
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Impaired T cell function, Abnormality of the ureter, Orotic acid crystall... ORPHA:30
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Hepat... ORPHA:858
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Cinca Syndrome
Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Uv... OMIM:607115
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Inflammatory abnormality of the eye, Ar... ORPHA:36412
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Common Variable Immunodeficiency
Chronic otitis media, Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphad... ORPHA:1572
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati... ORPHA:353298
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Complement Component C1R/C1S Deficiency
Autoimmunity OMIM:216950
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul... ORPHA:54251
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc... ORPHA:98850
Icf Syndrome
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Abnormality of the tonsils, Abnormality o... ORPHA:229717
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased... OMIM:612301
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytopenia, Hepatosp... ORPHA:79330
Harderoporphyria
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Thrombocytopenia 5