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
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
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
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 40
Lymphopenia OMIM:616433
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
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
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 8
Lymphopenia OMIM:615401
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Candidiasis, Familial, 2
Increased circulating IgE level, Hypereosinophilia OMIM:212050
Immunodeficiency 19
Lymphopenia OMIM:615617
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Decreased circulating antibody level, Part... OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... OMIM:614470
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... OMIM:607271
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Decreased lymphocyte prolif... OMIM:606367
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Increased circulating IgE level ORPHA:2902
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Absence of CD8-positive T cells, Hepat... ORPHA:911
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... ORPHA:169160
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased serum complement C3 ORPHA:79087
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... ORPHA:276
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... OMIM:304790
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia ORPHA:83313
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... OMIM:615816
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... OMIM:615559
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreas... OMIM:240500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... OMIM:605258
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegaly, Abnormal serum interleuki... ORPHA:158061
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I... OMIM:313900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal serum interferon-gamma level, Hepatosplenomegaly, Panhypogammaglobulinemia, Decr... ORPHA:79124
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... ORPHA:507
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, Abnormal T cell subset distributi... ORPHA:158048
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Reticular Dysgenesis
Decreased circulating antibody level, Anemia, Abnormality of neutrophils, Leukopenia ORPHA:33355
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia OMIM:602450
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Impaired T cell func... OMIM:613179
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased testicular size, De... OMIM:201100
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells ORPHA:543
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE le... ORPHA:330015
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Ataxia-Telangiectasia
Type II diabetes mellitus, Decreased circulating antibody level, Polycystic ovaries, Abnormal tes... ORPHA:100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Increased circulating... OMIM:617303
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Decreas... ORPHA:83471
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Spleno... ORPHA:37042
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... ORPHA:449432
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Immunodeficiency 55
Neutropenia OMIM:617827
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... ORPHA:91139
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Ebola Hemorrhagic Fever
Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Leukopenia ORPHA:319218
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia ORPHA:2268
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... OMIM:615122
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity, Absent plate... OMIM:608233
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Circulating immune complexes OMIM:607665
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... OMIM:615934
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Cutaneous anergy, Panhypogammaglobulinemia, Viral h... OMIM:209920
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... ORPHA:760
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... ORPHA:555905
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Abnormality of the liver, Au... ORPHA:1572
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Neoplasm of the adrenal cortex,... ORPHA:163634
Nijmegen Breakage Syndrome
B lymphocytopenia, Dysgammaglobulinemia, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolyti... OMIM:251260
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... OMIM:617388
Sézary Syndrome
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... ORPHA:293978
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Hepatomegaly, Impaired T cell function, Decreased specific anti-polys... OMIM:614576
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells ORPHA:133
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... ORPHA:505248
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Lymphopenia, Thro... OMIM:242900
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Bone marrow hypocellularity, Splenomegaly ORPHA:829
Acquired Ichthyosis
Sarcoma, Multiple myeloma, Lymphoma, Neoplasm ORPHA:454
Retinal Venous Beading
Neutropenia OMIM:180080
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus,... ORPHA:744
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Chondrosarcoma, Neoplasm, Sarcoma, Multiple ench... ORPHA:296
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Igg4-Related Kidney Disease
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... ORPHA:449395
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Diabetes mell... ORPHA:169105
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia OMIM:618624
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Increased circulating antibody level, Pancytopen... ORPHA:77259
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... ORPHA:1830
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Rift Valley Fever
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level ORPHA:319251
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Brucellosis
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Increased circulating IgG level, ... ORPHA:1304
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Vici Syndrome
Gray matter heterotopia, Cutaneous anergy, Decreased circulating IgG level, Decreased proportion ... OMIM:242840
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Splenomeg... ORPHA:33226
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... ORPHA:540
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Lassa Fever
Increased circulating IgM level ORPHA:99824
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia OMIM:617425
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Absent circulating B cells, Panhypogammaglobulinemia, Decreased response t... OMIM:307200
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 47
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... OMIM:300972
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, A... ORPHA:3243
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Legionnaires Disease
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Lymphopenia,... ORPHA:549
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... ORPHA:99829
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the... ORPHA:84064
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating an... OMIM:615688
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Prolidase Deficiency
Thrombocytopenia, Increased circulating antibody level, Anemia, Splenomegaly OMIM:170100
Bloom Syndrome
Leukemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating... OMIM:210900
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:614520
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia ORPHA:292
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... OMIM:610377
Coccidioidomycosis
Abnormality of the spleen, Abscess, Increased circulating IgG level, Increased circulating IgM le... ORPHA:228123
Whim Syndrome
Neutropenia, Lymphadenitis, Decreased circulating antibody level, Parotitis, Lymphopenia, Abnorma... ORPHA:51636
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Abscess, Increased circulating antibody level, Eosinophilia ORPHA:400
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgM level, Increased cir... ORPHA:79078
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG1... ORPHA:90363
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Bone marrow hypocellularity, Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Increased circulating IgG level, Splenomegaly, Neutrophilia, Increased ... ORPHA:99827
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Neoplasm, Sarcoma ORPHA:626
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ... ORPHA:125
Cowden Syndrome 1
Goiter, Decreased circulating antibody level, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Ova... OMIM:158350
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia OMIM:243150
Caffey Disease
Increased circulating antibody level ORPHA:1310
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Infantile Myofibromatosis
Neoplasm of the skin, Neoplasm of the lung, Neoplasm of the pancreas, Fibroma, Sarcoma, Benign ne... ORPHA:2591
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Decreased... OMIM:612301
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Alg12-Cdg
B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3 ORPHA:329918
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Gene... OMIM:181000
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Trichinellosis
Increased circulating IgE level ORPHA:863
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Splenomegaly ORPHA:373
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Cryoglobulinemia, Decreased serum complement C4, Normochromic anem... ORPHA:289390
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Alveolar Echinococcosis
Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophilia, Cutaneous... ORPHA:284
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypogonadism, Lymphopenia, Hypothyroidism, Cryptorchidism OMIM:617575
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly OMIM:613385
Mirage Syndrome
Adrenal insufficiency, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocy... OMIM:617053
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... ORPHA:227990
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Decreased circulating antibody level, ... ORPHA:2136
Retinoblastoma
Leukemia, Lymphoma, Osteosarcoma, Pinealoma, Retinoblastoma, Ewing sarcoma OMIM:180200
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Lymphopenia, Thrombocytopenia ORPHA:93552
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Splenomegaly OMIM:249100
Liposarcoma
Sarcoma ORPHA:69078
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Poems Syndrome
Polycythemia, Thrombocytosis, Increased circulating antibody level ORPHA:2905
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the central nervous system, Neoplasm of the p... ORPHA:83469
Igg4-Related Pachymeningitis
Complement deficiency, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Cryptorchidism, Jaundice OMIM:214110
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... ORPHA:29073
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... ORPHA:2298
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome