Gene Summary

Name:
interferon regulatory factor 4
Synonyms:
Spip,  IRF-4

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Irf4em1(IMPC)Mbp HOM Early adult 4.41×10-06
abnormal spleen morphology Irf4em1(IMPC)Mbp HOM Early adult 0.00
abnormal thymus morphology Irf4em1(IMPC)Mbp HOM Early adult 0.00
enlarged thymus Irf4em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Irf4em1(IMPC)Mbp HOM Early adult 0.00
increased spleen weight Irf4em1(IMPC)Mbp HOM Early adult 1.38×10-05
enlarged spleen Irf4em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Irf4em1(IMPC)Mbp HOM Early adult 0.00
decreased lymphocyte cell number Irf4em1(IMPC)Mbp HOM Early adult 3.87×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

84 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

Human diseases caused by Irf4 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 Irf4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Whipple Disease
Hepatomegaly, Infectious encephalitis, Mediastinal lymphadenopathy, Anemia, Splenomegaly ORPHA:3452

The table below shows human diseases predicted to be associated to Irf4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Afibrinogenemia, Congenital
Splenic rupture OMIM:202400
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Severe varicella zoster infection, Lymphadenopathy, Splenomegaly, Recurrent respiratory infection... OMIM:300853
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 24
Severe varicella zoster infection, Decreased specific pneumococcal antibody level, Defective T ce... OMIM:615897
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopath... OMIM:618261
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, B-cell lymphom... OMIM:619437
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw... OMIM:607594
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Recurrent opportunistic infections, Lack of T cell function, R... ORPHA:277
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurr... OMIM:613501
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent resp... OMIM:615615
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Lymphoprolifera... OMIM:614470
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Recurrent pneumonia, Lymphopen... OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Lymphoma, Hepatosplenomeg... OMIM:619126
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Lymp... OMIM:618982
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... OMIM:611521
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... OMIM:619220
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Dysgammaglobuli... OMIM:308240
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent otitis media, Recurrent pneumonia, Recurre... OMIM:613502
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... OMIM:618986
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:615559
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Hepatomegaly, Recurrent bronchitis, Decreased circulating IgA lev... OMIM:240500
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Lymphoproliferative Syndrome 2
Sepsis, Hepatomegaly, Severe varicella zoster infection, Pancytopenia, Ascites, Lymphoproliferati... OMIM:615122
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Meningitis, In... OMIM:212050
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circ... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level,... OMIM:102700
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Recurrent funga... OMIM:603554
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... OMIM:619281
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Squamous cell carcinoma of the vulva, Anal canal squamous carcinoma, Verrucae,... ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Myelodysplasia... OMIM:608184
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... OMIM:150550
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... ORPHA:70593
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly OMIM:269840
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Frequen... OMIM:300310
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Lymphadenopathy, Recurrent upper and lower respiratory tract ... ORPHA:911
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... OMIM:601457
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Recurrent oti... OMIM:601495
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, B lymphocytopenia, Hemolytic anemia, Severe varicella zoster infe... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Lymphoproliferative Syndrome 1
Hepatomegaly, Hodgkin lymphoma, Leukopenia, Lymphoproliferative disorder, Lymphadenopathy, Decrea... OMIM:613011
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... OMIM:612692
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Hepatomegaly, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG... OMIM:616100
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarged to... OMIM:308230
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
Immunodeficiency 67
Recurrent staphylococcal infections, Transient neutropenia, Recurrent streptococcal infections, L... OMIM:607676
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Lymphadenopathy, Recurrent infections, Splenomegaly, Decreased circulating total IgM, Pan... OMIM:614700
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Immunodeficiency 68
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Increased circulatin... ORPHA:37748
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Decreased ... OMIM:619375
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ... OMIM:243700
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... OMIM:209950
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Recurrent infections OMIM:618048
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... ORPHA:231154
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Thyroid carcinoma, Recurrent herpes, Neutropenia in pr... ORPHA:331235
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Leukocytosis, Sepsis, Hepatomegaly, Anemia, Abnormality of the ly... OMIM:612840
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 55
Lymphadenopathy, Myelodysplasia, Neutropenia, Recurrent infections OMIM:617827
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia OMIM:605309
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Hepatitis, Splenomegaly... OMIM:300635
Sézary Syndrome
Hepatomegaly, Neoplasm of the skin, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymp... ORPHA:3162
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respiratory tract i... OMIM:602450
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Abnormal serum inter... ORPHA:158057
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Chronic infection, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic er... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Classic Mycosis Fungoides
Hepatomegaly, Neoplasm of the skin, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Sp... ORPHA:2584
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Peria... OMIM:618935
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Lymphadenopathy, Recurrent viral infections, Splenome... OMIM:609981
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Thymic Aplasia
Sepsis, Lymphadenopathy, Recurrent infections, Recurrent candida infections, Oligoclonal T cell e... ORPHA:83471
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Reticular Dysgenesis
Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent bacterial infections, Recurrent infection of the gastrointestin... ORPHA:572
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233710
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent bronchitis, Recurrent viral infections, Abnormal lymphocyte morphology, Recurre... ORPHA:293978
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Meningitis, In... ORPHA:3392
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Verrucae, Decreased circulating IgG level, Decreased... OMIM:193670
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Nodular goiter, Goiter ORPHA:97290
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Nodular goiter, Goiter ORPHA:319487
Felty Syndrome
Sepsis, Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Recurrent inf... ORPHA:47612
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233690
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly OMIM:615895
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Infectious encephalitis, Neutropenia, Recurrent protozoan infecti... OMIM:209920
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Immunodeficiency 32B
Splenomegaly OMIM:226990
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Primary Intestinal Lymphangiectasia
Ascites, Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circula... ORPHA:90362
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Decreased circulating antibody level, Recurrent infections, Micronodular c... OMIM:301045
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neoplasm, Lymphoma, Splenomegaly ORPHA:391
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Recurrent bronchitis, Lymphadenopathy, Decreased circulating antib... ORPHA:1572
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Hemangioma, Anemia, Splenomegaly, He... ORPHA:824
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Immunodeficiency 10
Recurrent bacterial infections, Kaposi's sarcoma, Lymphadenopathy, Recurrent infections, Thromboc... OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent fungal infection... ORPHA:169090
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Griscelli Syndrome
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Decreased circulating antibody level, Bone ma... ORPHA:381
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... ORPHA:79301
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphadenopathy, Recurrent infections, Lymphocytosis, Thrombocyto... OMIM:617718
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Chronic oral candidiasis, Lymphad... OMIM:260920
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Sp... ORPHA:100026
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis OMIM:613313
Roifman Syndrome
Lymphadenopathy, Decreased circulating antibody level, Recurrent otitis media, Hepatosplenomegaly... ORPHA:353298
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Enteroviral hepatitis, Infectious encephalitis, Enteroviral derma... OMIM:307200
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Hyperparathyroidism, Splenomegaly OMIM:618107
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Cyclic Neutropenia
Sepsis, Peritonitis, Lymphadenopathy, Opportunistic infection, Perianal abscess, Lymphopenia, Cyc... ORPHA:2686
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Enteroviral dermatomyositis s... OMIM:300755
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Anemia, Abnormal... ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Increased circulating ... OMIM:617591
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Recurrent infections, Decreased circulat... OMIM:617780
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Omenn Syndrome
Leukocytosis, Sepsis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Lymp... ORPHA:39041
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... OMIM:616576
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice ORPHA:858
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, BCGosis, Monocytosis, Lymphadenopathy, Recurrent lower respiratory tract infections... OMIM:619644
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Recurrent urinary trac... ORPHA:169105
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Me... OMIM:616050
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectiou... ORPHA:540
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... ORPHA:158061
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Increased circ... OMIM:304790
Ataxia-Telangiectasia
Hodgkin lymphoma, Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of ... OMIM:208900
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Ataxia-Telangiectasia
Decreased circulating antibody level, Neoplasm, Lymphopenia, Aplasia/Hypoplasia of the thymus, Re... ORPHA:100
Kaposi Sarcoma
Abnormality of the spleen, Neoplasm of the skin, Recurrent herpes, Lymphoproliferative disorder, ... ORPHA:33276
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous system, Mediastinal lymphadenopat... ORPHA:83469
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Heme Oxygenase 1 Deficiency
Sepsis, Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Coombs-posit... OMIM:614034
Rhabdoid Tumor
Neoplasm of the central nervous system, Lymphadenopathy, Anemia, Neoplasm of the liver, Sarcoma, ... ORPHA:69077
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Babesiosis
Hepatomegaly, Leukopenia, Recurrent infections, Splenomegaly, Recurrent pharyngitis, Thrombocytop... ORPHA:108
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Immunodeficiency 47
Recurrent bacterial infections, Hepatomegaly, Normocytic anemia, Decreased circulating total IgA,... OMIM:300972
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Decreased serum complement C3 ORPHA:79087
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... OMIM:116920
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Myelodysplasia, Multip... ORPHA:98849
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... OMIM:617394
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum, Ascites ORPHA:26790
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Anemia, ... ORPHA:508542
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Bloom Syndrome
Neoplasm of the skin, Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent ... ORPHA:125
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Decreased specific pneumococcal antibody level, Autoimmu... OMIM:613496
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hodgkin lymphoma, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating ant... OMIM:615952
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:602347
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, M... ORPHA:829
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Hemophagocytic Syndrome Associated With An Infection
Chronic active Epstein-Barr virus infection, Hepatomegaly, Neutropenia, Abnormal cytokine signali... ORPHA:158048
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Hepatomegaly, Recurrent candida infections, Splenomegaly OMIM:201100
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Rhabdomyosarcoma, Recurrent... OMIM:251260
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Recurr... OMIM:615934
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... OMIM:616828
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Giant neutrophil granules, Recurrent infe... OMIM:214500
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Mevalonic Aciduria
Splenomegaly ORPHA:29
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Eosinop... OMIM:616651
Beta-Thalassemia
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
X-Linked Agammaglobulinemia