Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serine/threonine kinase 4
Synonyms:
Kas-2,  Mst1,  Ysk3,  sterile 20-like kinase 1

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 Stk4 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 Stk4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868

The table below shows human diseases predicted to be associated to Stk4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Ewing Sarcoma
Ewing sarcoma OMIM:612219
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
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
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
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal... OMIM:269840
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... ORPHA:277
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
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
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
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
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen... OMIM:619220
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
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
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased circulating total IgM, Decreased proportion of CD8-positiv... OMIM:619802
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG level, Thrombocy... OMIM:620603
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... OMIM:614470
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Immunodeficiency 102
Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... OMIM:301082
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
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 27A
Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl... OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:618523
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... OMIM:606367
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody level, Splenom... ORPHA:397596
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:242860
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr... OMIM:617099
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis ORPHA:2902
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Thrombocytopeni... OMIM:304790
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... OMIM:308230
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... 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, Decreased circulating to... OMIM:102700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level... OMIM:243700
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
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
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased circulating complement C3 concentration ORPHA:79087
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ... OMIM:618282
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 92
Abnormal B cell proliferation, Decreased proportion of class-switched memory B cells, Lymphocytos... OMIM:619652
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Increased circulatin... ORPHA:276
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot... OMIM:620210
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Absent isohemaggl... OMIM:615559
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop... OMIM:618048
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ... OMIM:608184
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Increased circulating IgE level, Increased circulating IgA level, Le... OMIM:620565
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Aspergillosis
Eosinophilia, Increased circulating IgE level, Neutropenia ORPHA:1163
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ... OMIM:616050
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... OMIM:300755
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... OMIM:616433
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko... ORPHA:507
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... ORPHA:79124
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating interleukin 6... ORPHA:158061
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... ORPHA:158057
Immunodeficiency 32B
Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopenia, Splenomega... OMIM:226990
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Increased circulating IgA level, A... OMIM:612783
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Reticular Dysgenesis
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Leukopenia ORPHA:33355
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Lead Poisoning
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe... ORPHA:330015
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia, Increased circulating IgE level ORPHA:2314
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentratio... OMIM:615010
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Lymphedema, Primary, With Myelodysplasia
Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Pancytopenia OMIM:614038
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616910
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Ataxia-Telangiectasia
Delayed puberty, Decreased circulating antibody level, Abnormal testis morphology, Type II diabet... ORPHA:100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Generalized lymphadenopathy, Lymphadenopathy, Pancytopenia, Decrease... OMIM:614700
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly OMIM:300635
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Tularemia
Anemia, Increased circulating antibody level, Leukocytosis, Thrombocytopenia, Cutaneous abscess, ... ORPHA:3392
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... ORPHA:90362
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Mucopolysaccharidosis-Plus Syndrome
Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopenia, Leukopeni... OMIM:617303
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:449432
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Decreased circ... OMIM:208900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Increased circulating antibody level, Lymphopenia ORPHA:319218
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... ORPHA:3226
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Increased circulating interleukin 6 concentration, Anemia, Inguinal lym... OMIM:620514
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Icf Syndrome
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Hepatosple... OMIM:615122
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia OMIM:617341
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Hydrocele testis OMIM:605309
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... ORPHA:436159
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Thrombocytopenia, Sp... OMIM:617591
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells ORPHA:133
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Increased circulating IgA level, Leukopenia, Lymphopenia... OMIM:615934
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Iga Pemphigus
Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula... ORPHA:555905
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Cutaneous anergy, Viral hepatitis, Biliary tract abnormali... OMIM:209920
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Abnormal cortical gyration, Cirrhosis, Hep... OMIM:614576
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ... ORPHA:1572
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Abnormal circulating cytokine concentration, Jaundice, Hepatomegaly, H... ORPHA:540
Sézary Syndrome
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Myeloma, Multiple
Paraproteinemia OMIM:254500
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Increased circulating IgA level, Sp... OMIM:617388
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Portal hypertension, Cryptorchidism, Hypothyroidism, Decreased circulat... OMIM:620005
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Decreased testicular size, Splenomegaly, Hypogonadism, De... OMIM:201100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Immunodeficiency 7
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM l... ORPHA:505248
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Acquired Ichthyosis
Sarcoma, Neoplasm, Lymphoma, Multiple myeloma ORPHA:454
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Griscelli Syndrome Type 2
Splenomegaly, Neutropenia, Hemophagocytosis, Pancytopenia ORPHA:79477
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells... ORPHA:1830
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Thrombocytopenia, Lymphopenia OMIM:618624
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Hyper-Igd Syndrome
Increased circulating IgA level, Leukocytosis, Increased circulating IgD level, Neutrophilia, Hep... OMIM:260920
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Increased circulating IgG1 level, Increased ci... ORPHA:449395
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin... ORPHA:90045
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Neutrophilia, Brain abscess ORPHA:54251
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Proteus Syndrome
Ovarian neoplasm, Diabetes insipidus, Testicular neoplasm, Gray matter heterotopia, Enlarged poly... ORPHA:744
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Brucellosis
Lung abscess, Liver abscess, Anemia, Increased circulating IgG level, Leukocytosis, Granuloma, In... ORPHA:1304
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Splenomegaly, Monoclonal immunoglobulin M proteinemia, Abnor... ORPHA:33226
Lassa Fever
Increased circulating IgM level ORPHA:99824
Myelofibrosis
Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis OMIM:254450
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Ollier Disease
Hemangioma, Chondrosarcoma, Sarcoma, Neoplasm, Multiple enchondromatosis, Visceral angiomatosis ORPHA:296
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Lymphopenia OMIM:620365
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion... OMIM:619381
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased circulating interleukin 6 concentration, Increased B cell count, Leukocytosis, ... OMIM:620376
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Legionnaires Disease
Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ... ORPHA:549
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati... OMIM:300972
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus, Hypothyroidism, Incr... ORPHA:84064
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Leukocytosis, Increased circulating IgD level, Normocytic hypop... OMIM:610377
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Yellow Fever
Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,... ORPHA:99829
Gaucher Disease Type 1
Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic rupture, ... ORPHA:77259
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukoc... OMIM:615688
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia OMIM:617425
Sweet Syndrome
Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... ORPHA:3243
Coccidioidomycosis
Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnormality of the s... ORPHA:228123
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia OMIM:618223
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:292
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi... OMIM:242900
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 leve... ORPHA:79078
Cystic Echinococcosis
Increased circulating antibody level, Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess ORPHA:400
Caffey Disease
Increased circulating antibody level ORPHA:1310
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma ORPHA:626
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I... OMIM:620040
Whim Syndrome
Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, L... ORPHA:51636
Wolcott-Rallison Syndrome
Lymphocytosis, Iron deficiency anemia, Neutropenia ORPHA:1667
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci... ORPHA:90363
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Neutrop... OMIM:613989
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi... OMIM:614162
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Increased circulating IgE level, Cutaneous a... OMIM:147060
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level, Splenomegaly ORPHA:186
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Neu... ORPHA:99827
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorch... OMIM:612541
Bloom Syndrome
Decreased circulating total IgM, Acute myeloid leukemia, Abnormal proportion of CD8-positive T ce... ORPHA:125
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Cowden Syndrome 1
Thyroiditis, Decreased circulating antibody level, Hypothyroidism, Ovarian cyst, Thyroid adenoma,... OMIM:158350
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Letterer-Siwe Disease