Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DNA cross-link repair 1C
Synonyms:
9930121L06Rik,  Artemis,  Art

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 Dclre1c 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 Dclre1c by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dclre1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... OMIM:618987
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... OMIM:616911
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... OMIM:615401
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell activity, Decre... OMIM:300400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell activity, Decre... OMIM:619281
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat... OMIM:618944
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent candida ... OMIM:614069
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Chronic mucocutaneous candid... ORPHA:98813
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone... OMIM:609981
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Immunodeficiency 20
Reduced natural killer cell count, Recurrent otitis media, Recurrent viral upper respiratory trac... OMIM:615707
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Decrea... OMIM:616740
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni... OMIM:616100
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased cir... OMIM:614470
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease... OMIM:615767
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Papular Xanthoma
Histiocytosis ORPHA:158008
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia OMIM:619407
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Decreased proportion of class-switched memory B c... OMIM:614878
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced b... OMIM:616435
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
N Syndrome
Leukemia, Abnormality of chromosome stability, Cryptorchidism OMIM:310465
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... OMIM:243700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrom... OMIM:300755
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Auto... OMIM:615607
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia... ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Chromosomal breakag... OMIM:620133
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe... OMIM:620632
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:169160
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Chromo... OMIM:605724
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections OMIM:300299
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R... OMIM:614700
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia ORPHA:100025
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ... ORPHA:436159
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas... OMIM:619652
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... OMIM:608184
Reticular Dysgenesis
Sepsis, Recurrent respiratory infections, Leukopenia, Anemia, Abnormality of neutrophils, Decreas... ORPHA:33355
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti... OMIM:617780
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio... OMIM:618116
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade... OMIM:603909
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,... OMIM:209950
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Autoimmune thr... ORPHA:331235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Dec... OMIM:616910
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Severe B l... ORPHA:293978
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ... OMIM:620005
Congenital Disorder Of Glycosylation, Type Iir
Recurrent infections, Decreased circulating antibody level, Decreased proportion of CD4-positive ... OMIM:301045
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Recurrent respiratory infections, Pancytopenia, Splenomegaly, ... OMIM:300635
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sepsis, Impaired memory B cell generation, Abnormal circulating ... OMIM:308230
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Lymphopenia, Decreased proportion of CD8-positive T cells, Abnor... OMIM:301000
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent... ORPHA:79124
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... ORPHA:90362
Immunoglobulin A Deficiency 1
Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina... OMIM:137100
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary in... OMIM:616576
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG level, Splen... OMIM:226990
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Ataxia-Telangiectasia
Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Lymphopenia, Polycystic ov... ORPHA:100
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Thrombocytopenia, Anemia, Hyp... OMIM:617053
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Fanconi Anemia, Complementation Group S
Anemia, Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma OMIM:617883
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity, Biliary atresia OMIM:615272
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... ORPHA:3162
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Abnormality of chromosome stability ORPHA:2268
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:617244
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ... OMIM:615468
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Abnormal T cell count, Absent circulating ... OMIM:307200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Failure to thrive OMIM:242860
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Hepatomegaly, Biliary hyperplasia, B lymph... ORPHA:83617
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Lymphedema, Primary, With Myelodysplasia
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent respiratory ... OMIM:618282
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... ORPHA:183675
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, C... OMIM:603467
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Increased mean corpuscular vol... OMIM:617052
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Immunodeficiency 40
Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Reduced antigen-specific T c... OMIM:616433
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:319487
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Decreased circulating IgA level, Anemia, Decreased circulating t... OMIM:620040
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia OMIM:266265
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Recurrent infections, Neutropenia OMIM:620443
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia... OMIM:304790
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:600901
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Lymphocytosis ORPHA:79087
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Recurren... ORPHA:83471
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Chromosomal b... OMIM:609053
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism OMIM:613951
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:227650
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Decreased circulating antibody ... OMIM:615952
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Recurrent urinary tract infections, Decre... ORPHA:125
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega... OMIM:616050
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Congenital Toxoplasmosis
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytope... OMIM:227645
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T... OMIM:617591
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy ORPHA:353298
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... ORPHA:486
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Decreased circula... ORPHA:90363
Systemic Capillary Leak Syndrome
Hypotension, Leukocytosis, Arrhythmia, Weight loss, Myocarditis, Pericarditis ORPHA:188
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Obesity, Decreased proportion of CD4-positi... ORPHA:66628
Autosomal Agammaglobulinemia
Recurrent infections, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent respiratory infections ORPHA:33110
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Leukocytosis, Cryptorchidism, ... ORPHA:99812
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutr... ORPHA:391487
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Relapsing Fever
Epistaxis, Hypotension, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Tachyca... ORPHA:91547
Maternal Uniparental Disomy Of Chromosome 1
Recurrent infections, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Obesity, Decreased proportion of CD4-positi... ORPHA:179494
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Acute Radiation Syndrome
Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia ORPHA:454831
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Splenomegaly, Recurrent infections, Decreased circulating an... OMIM:605309
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy OMIM:620514
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytopenia, Cerebral hemor... ORPHA:99828
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto... ORPHA:79330
Erythrocytosis, Familial, 2
Hypotension, Failure to thrive, Increased hematocrit, Increased red blood cell mass, Increased ci... OMIM:263400
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy... OMIM:243150
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... ORPHA:1572
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular p... OMIM:227646
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... ORPHA:39041
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Reduced natural killer cell activity, Splenomegaly, ... ORPHA:540
Alg12-Cdg
Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, B lymphocytopenia ORPHA:79324
Netherton Syndrome
Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ... OMIM:256500
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Abnormal cytok... ORPHA:158048
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Hepatic steatosis, Cryptorchidism, Leuk... OMIM:210900
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre... OMIM:608233
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anem... ORPHA:88
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Myeloprolifer... ORPHA:79456
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a... OMIM:620565
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... OMIM:603553
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Anemia, Ovari... ORPHA:83469
Onychotrichodysplasia And Neutropenia
Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent... ORPHA:47
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Anemia, Increased body mass index OMIM:614450
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... OMIM:615934
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Prolonged... OMIM:257200
Immunodeficiency 55
Lymphopenia, Recurrent infections, Absent natural killer cells, Neutropenia OMIM:617827
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom... OMIM:620376
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Complete or near-complete absence of specif... OMIM:233600
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Recurrent infections, Transient hypogammaglobulinemia of infancy OMIM:251240
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Recurrent respiratory infections ORPHA:935
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Good Syndrome
Recurrent urinary tract infections, Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Recu... ORPHA:169105
Fanconi Anemia, Complementation Group L
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Chromos... OMIM:614083
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Acute myeloid leukemia, Aplastic anemia OMIM:610832
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... OMIM:619644
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Recurrent infections, Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ... ORPHA:457077
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Patent ductus arteriosus, Thrombocytopenia OMIM:300514
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615872
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm... ORPHA:699
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Myocarditi... ORPHA:292
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia... OMIM:242900
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Patent ductus arteriosus, Cryptorchidism OMIM:601186
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... ORPHA:829
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Small for gestational age, Supraventricular arrhythmia ORPHA:2959
Pneumocystosis
Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody level ORPHA:723
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Increase... ORPHA:449432
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cirrhosis, Neutropenia OMIM:604250
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Thrombocytopenia, Tachycardia, Intr... ORPHA:449285
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia, Recurrent lower respiratory tract infections, Rec... OMIM:226300
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hereditary Orotic Aciduria
Anemia, Patent ductus arteriosus, Splenomegaly, Impaired T cell function ORPHA:30
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Necrotizing Enterocolitis
Hypotension, Shock, Leukocytosis, Bradycardia, Thrombocytopenia, Neutropenia, Small for gestation... ORPHA:391673
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227990
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Recurrent bro... OMIM:617303
Immunodeficiency 56
Recurrent pneumonia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:615207
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy ORPHA:343
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... OMIM:267700
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypotension, Hypertension OMIM:611489
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... OMIM:301110
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... ORPHA:29073
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammaglobulinemia, Increased c... OMIM:300291
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Raynaud phenomenon, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Immunodeficiency 31C
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Autoimmune Polyendocrinopathy Type 3