Gene Summary

Name:
B cell linker
Synonyms:
Ly57,  BLNK,  Ly-57,  Bca,  BCA,  BASH,  SLP-65

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
decreased leukocyte cell number Blnkem1(IMPC)H HOM Early adult 1.23×10-07
decreased basophil cell number Blnkem1(IMPC)H HOM Early adult 3.23×10-05
small spleen Blnkem1(IMPC)H HOM Early adult 0.00
decreased spleen weight Blnkem1(IMPC)H HOM Early adult 4.26×10-11
decreased lymphocyte cell number Blnkem1(IMPC)H HOM Early adult 6.25×10-11
increased neutrophil cell number Blnkem1(IMPC)H HOM Early adult 2.61×10-07
decreased large unstained cell number Blnkem1(IMPC)H HOM Early adult 8.32×10-05
increased eosinophil cell number Blnkem1(IMPC)H HOM Early adult 2.78×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Autosomal Agammaglobulinemia
Hepatitis, Verrucae, Agammaglobulinemia, Neutropenia ORPHA:33110

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... OMIM:153600
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... OMIM:615897
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 40
Lymphopenia OMIM:616433
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 8
Lymphopenia OMIM:615401
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, L... OMIM:614470
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Verrucae, De... OMIM:618969
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Cernunnos-Xlf Deficiency
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... OMIM:607271
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... OMIM:618534
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Decreased circulating antibody l... OMIM:618261
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
Kimura Disease
Lymphadenopathy, Eosinophilia, Follicular hyperplasia ORPHA:482
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti... OMIM:618394
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 19
Lymphopenia OMIM:615617
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Autoimmunity, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis... ORPHA:331206
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone ma... OMIM:616871
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Immunodeficiency 36
Chronic lymphatic leukemia, Autoimmunity, Decreased circulating antibody level, Splenomegaly, B-c... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Unclassified Myelodysplastic Syndrome
Leukocytosis, Autoimmunity, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelody... ORPHA:98827
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Lac... ORPHA:277
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia OMIM:212050
Chilblain Lupus
Chronic myelomonocytic leukemia, Systemic lupus erythematosus, Rheumatoid factor positive, Increa... ORPHA:90280
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, ... OMIM:616100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Reduced red cell adenosine deam... OMIM:102700
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Hodgkin lymphoma, L... OMIM:300853
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... OMIM:614172
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Abnormal serum inter... ORPHA:158057
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circu... OMIM:308240
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... ORPHA:86841
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... OMIM:619220
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... OMIM:619041
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Autoimmunity, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-n... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Neoplasm o... ORPHA:99867
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Wells Syndrome
Eosinophilia ORPHA:901
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia, Aplastic anemia OMIM:614743
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
X-Linked Lymphoproliferative Disease
Autoimmunity, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural... ORPHA:2442
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Autoimmunity, Megaloblastic anemia, Decreased circulating anti... OMIM:617780
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... ORPHA:231401
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... ORPHA:524
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Whim Syndrome 1
Verrucae, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Anal canal squamous carcinoma, Verrucae, Increased circulating IgE level, Squa... ORPHA:217390
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmunity, Hodgkin lymphoma, Leukopenia, Lymphoproliferative disorder, Lymphaden... OMIM:613011
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinop... ORPHA:169160
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
N Syndrome
Leukemia, Neoplasm OMIM:310465
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... OMIM:618495
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatic cysts, Hepatosplenomegaly, Eosinophilia, Eosinophilic liver infiltration OMIM:618999
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Monocytosis, Leukemia, Hemangioma, Ant... ORPHA:486
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis, Myelodysplasia ORPHA:48104
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Acute Erythroid Leukemia
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia ORPHA:318
Amed Syndrome, Digenic
Myelodysplasia, Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thromboc... OMIM:619151
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Selective Igm Deficiency
Autoimmunity, Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodies, Lymphadeno... ORPHA:331235
Ataxia-Telangiectasia
Hodgkin lymphoma, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective ... OMIM:208900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... OMIM:209950
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Hepatic steatosis, De... OMIM:301045
Lymphoproliferative Syndrome 2
Hepatomegaly, Hodgkin lymphoma, Ascites, Lymphoproliferative disorder, Lymphadenopathy, Decreased... OMIM:615122
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia OMIM:615715
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... OMIM:601399
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Bone marrow hypocellularity OMIM:605724
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Primary Erythromelalgia
Leukemia ORPHA:90026
Lymphedema, Primary, With Myelodysplasia
Leukemia, Myelodysplasia, Pancytopenia OMIM:614038
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... ORPHA:911
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Decreased ... OMIM:619375
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreas... OMIM:240500
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Increased circulatin... ORPHA:37748
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Sarcoma, Mastocytosis ORPHA:66661
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Pancreatoblastoma, Oropharyngeal squ... ORPHA:443167
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Autoimmune thr... OMIM:304790
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Myelodysplasia, Bone marrow hypocellularity, Anemia, Myeloid leukemi... OMIM:614742
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Mantle Cell Lymphoma
Lymphadenopathy, B-cell lymphoma, Splenomegaly ORPHA:52416
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Decreased circulating IgA level, Chronic hepatitis, Impaired memory B ... OMIM:308230
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... ORPHA:98850
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Verrucae, Decreased circulating IgG level, Decreas... ORPHA:275
Roifman Syndrome
Lymphadenopathy, Hepatomegaly, Eosinophilia, Splenomegaly OMIM:616651
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Decreased circulating antibody level, Hepatitis, Splenomegaly, Pancytopenia, Aplast... OMIM:300635
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presen... ORPHA:572
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Bloom Syndrome
Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Lymphoma, Squamous ce... OMIM:210900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Immunodeficiency With Hyper-Igm, Type 4
Myelodysplasia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of l... OMIM:608184
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Autoimmunity, Lymphoproliferative disorder, Systemic lupus erythemato... ORPHA:90033
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Multiple lineage mye... ORPHA:86839
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Lymphadenopathy, Decreased ... OMIM:606367
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level, Macronodular cirrhosis OMIM:215250
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... OMIM:613496
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Bloom Syndrome
Neoplasm of the skin, Acute lymphoblastic leukemia, Malignant genitourinary tract tumor, Myelodys... ORPHA:125
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulati... OMIM:300972
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating IgA level, Decreased circulating antibody level, Lymphoma, Ci... ORPHA:90363
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Hodgkin lymphoma, Neutropenia in presence of anti-neutropil antibodies, Decreased c... OMIM:615952
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Decreased circulating IgA level, Decreased circulati... OMIM:615577
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus, Neoplasm ORPHA:100
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus, Decreased circulating IgA level OMIM:208910
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Multiple myeloma, Monoclonal immunoglobulin M protei... ORPHA:91139
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abscess... ORPHA:400
Alpha-Thalassemia
Myelodysplasia, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcy... ORPHA:846
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Sézary Syndrome
Hepatomegaly, Neoplasm of the skin, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymp... ORPHA:3162
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Lymphopenia OMIM:617425
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia ORPHA:2268
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia, Cirrhosis OMIM:604250
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Eosinophilia, Hepatitis, Lymphocytosis ORPHA:139402
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Autoimmunity, Decreased specific pneumococcal antibody level, Decreased circulating ... ORPHA:183675
Immunodeficiency 61
Agammaglobulinemia, Colon cancer OMIM:300310
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteine... ORPHA:33226
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... OMIM:612301
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia ORPHA:281090
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, C... ORPHA:449400
Classic Mycosis Fungoides
Hepatomegaly, Neoplasm of the skin, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Sp... ORPHA:2584
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Absence of lymph node germinal center, Anemia, Abnormal serum ... ORPHA:79124
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Mastocytosis
Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Sarcoma, Mastocytosis ORPHA:98292
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Griscelli Syndrome
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypo... ORPHA:381
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphadenopathy, Decreased circulating antibody level, Lymphoma, S... ORPHA:1572
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased circulating IgG level, Decreased circulating antibody level, Decreased ly... ORPHA:508533
Aspergillosis
Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Mirage Syndrome
Leukopenia, Anemia, Patent ductus arteriosus, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... ORPHA:79330
Netherton Syndrome
Hypereosinophilia OMIM:256500
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... OMIM:615934
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology... ORPHA:293978
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Lymphoma, Pancytopenia ORPHA:99812
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased circulating antibo... OMIM:233600
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop... ORPHA:169105
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Anemia, Abnorm... ORPHA:284
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
X-Linked Agammaglobulinemia
Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Abnormality... ORPHA:47
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, A... ORPHA:3243
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Neoplasm, Lymphoma, Splenomegaly ORPHA:98293
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Hepatomegaly, Panhypogammaglobulinemia ORPHA:251009
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Antimi... ORPHA:562639
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulat... ORPHA:227990
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Cutaneous anergy, Panhypogammaglobulinemia, Viral h... OMIM:209920
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... ORPHA:811
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level OMIM:618048
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:231095
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... ORPHA:540
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Nijmegen Breakage Syndrome
B lymphocytopenia, Rhabdomyosarcoma, Lymphoma, Dysgammaglobulinemia, Thrombocytopenia, Glioma, T ... OMIM:251260
Wiskott-Aldrich Syndrome
Autoimmunity, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, ... ORPHA:906
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulat... ORPHA:227982
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Neoplasm, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Lymph node hypopl... OMIM:613179
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Myelodysplasia, Anemia, Persistence of hemoglobin F, Acute myeloid leu... OMIM:260400
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia OMIM:602450
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Abnormal erythrocyte enzyme level ORPHA:100924
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocytopenia, Pancytopenia, Thro... OMIM:227645
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Hemangioma, Anemia, Splenomegaly, He... ORPHA:824
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Leukocytosis, Thrombocytosis, Portal fibrosis, Thrombocytopenia, Anemia, Pancreatiti... ORPHA:3260
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neoplasm, Lymphoma, Splenomegaly ORPHA:391
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Lymphadenopathy, Splenomegaly, Reduced natural killer... OMIM:609981
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Cowden Syndrome 1
Meningioma, Transitional cell carcinoma of the bladder, Carcinoma, Decreased circulating antibody... OMIM:158350
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Hepatomegaly, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Seve... ORPHA:83617
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia OMIM:243500
Autosomal Agammaglobulinemia
Hepatitis, Verrucae, Agammaglobulinemia, Neutropenia ORPHA:33110
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Lymphoma, Splenomegaly ORPHA:545
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm, Patent ductus arteriosus ORPHA:404443
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Familial Thrombocytosis
Thrombocytosis, Myelodysplasia, Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia ORPHA:71493
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... ORPHA:158061
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689