Gene Summary

Name:
phosphoinositide-3-kinase adaptor protein 1
Synonyms:
1810044J04Rik,  BCAP

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 lymphocyte cell number Pik3ap1tm1b(KOMP)Wtsi HOM Early adult 2.55×10-07
abnormal cholesterol homeostasis Pik3ap1tm1b(KOMP)Wtsi HOM Early adult 2.05×10-05
increased neutrophil cell number Pik3ap1tm1b(KOMP)Wtsi HOM Early adult 3.90×10-08
increased monocyte cell number Pik3ap1tm1b(KOMP)Wtsi HOM Early adult 7.25×10-08

Download data as:  TSV  XLS

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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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pik3ap1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pik3ap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Immunodeficiency 40
Lymphopenia OMIM:616433
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:607594
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Reduced natural k... OMIM:619281
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... OMIM:300400
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, B lymphocytope... ORPHA:169079
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Immunodeficiency 8
Lymphopenia OMIM:615401
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Decreased prop... ORPHA:70593
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased proport... OMIM:618394
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of memory ... OMIM:619510
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:613501
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Neutropenia, Anemia... OMIM:615285
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center, Absent tonsils... ORPHA:277
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased proportion of memory T cells, Lymp... OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune hemolytic anemia, Au... OMIM:616100
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Abnormal B cell count, ... ORPHA:100024
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Decreased proportion of class-switched memory B cells, Increased... OMIM:615767
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... OMIM:619752
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Eosinophilia, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hepatospleno... ORPHA:35078
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency 19
Lymphopenia OMIM:615617
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Ly... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Impaired Ig cl... OMIM:605258
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosi... OMIM:619652
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased CD4:CD8 r... OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Anemia,... OMIM:613101
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level OMIM:605309
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Whim Syndrome 1
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Eosinophilia, Increased circulating IgG level, Decreased proport... OMIM:243700
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Partial absence of specific ant... OMIM:618986
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly, Decreased circulating antibody level OMIM:616005
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... OMIM:615559
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Chronic neutropen... OMIM:614700
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Hepatomegaly, Decreased circulating antibody level, Jaundice, Decreased propor... OMIM:301045
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Intestinal lymphangiectasia, De... ORPHA:90362
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Histiocytosis, Increased circulating IgM lev... OMIM:209950
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:100025
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Anemia, Thrombocyt... OMIM:618116
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... OMIM:300755
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Aplasia/Hyp... ORPHA:33355
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Decreased proportion of CD3-positive T cells, Hepa... ORPHA:169160
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Hepatomegaly,... OMIM:300635
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:169154
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Hypereosinophilia, Increased circulating IgE level OMIM:212050
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:276
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Increased circulating IgA level,... OMIM:600903
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody ... OMIM:615122
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Agammaglobulinemia, Decreased circulating antibody level, Neutropenia, Panhypogam... OMIM:601495
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Chronic decreased circulating... OMIM:300972
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:618204
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity OMIM:615190
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy OMIM:618048
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... ORPHA:221139
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:612301
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Eosinophilia, Increased circulat... OMIM:301000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Lack of T cell function, Abnormal CD4:CD... ORPHA:572
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Decreased circulating IgG level OMIM:600351
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Lichtenstein Syndrome
Neutropenia, Decreased circulating IgA level OMIM:246550
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Cervical lymphadeno... ORPHA:83313
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:210900
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Inc... OMIM:619632
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Jaun... ORPHA:381
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... ORPHA:444463
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus ORPHA:100
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Decreased circulating antibody level, Cholestasis ORPHA:1296
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Decreased c... ORPHA:79330
Myeloma, Multiple
Paraproteinemia OMIM:254500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... ORPHA:293978
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune he... OMIM:615952
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Abnormal circulating interleukin concentration, Decreased propor... ORPHA:79124
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglob... OMIM:209920
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly, Hepatomegaly, Lympha... ORPHA:3162
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy ORPHA:353298
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Steatorrhea OMIM:618752
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Hepatomegaly ORPHA:251009
Good Syndrome
Decreased circulating antibody level, Abnormal leukocyte morphology, Anemia, Aplasia/Hypoplasia o... ORPHA:169105
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve... ORPHA:90363
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hypereosinop... ORPHA:508533
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differentiation, D... OMIM:208900
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Viral hepatitis, Decreased circulating total IgM, Decreased spec... ORPHA:183675
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, T lymphocytopenia, Decreased circulating total IgG, Decreased pr... OMIM:619381
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Abscess, Neutrope... OMIM:615816
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Acute myeloid leukemia, Decreas... ORPHA:125
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Agammaglobulinemia, Interface hepatitis, Thrombocytosis, Autoimmune hemolytic anemi... OMIM:243150
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Decreased circulating antibod... ORPHA:586
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased circulating antibody level, Prolonged neonatal jaundice, Complete or near... OMIM:233600
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibo... ORPHA:1572
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... ORPHA:3392
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas, Agammaglobulinemia ORPHA:935
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells, Enteroviral hepatitis OMIM:307200
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Hypereosinophilia, Increased circulating IgA level, Autoimmune h... OMIM:617388
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Agammaglobulinemia, Neutropenia, Anemia, Hepatitis, Abnorm... ORPHA:47
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia, Autoimmune th... ORPHA:227990
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Lymphopenia, Decreased circulating antibody level OMIM:617425
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... ORPHA:91139
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Comple... ORPHA:449400
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Hepatomegaly, Increased circulating antibody level, Anemia, Lymph... OMIM:617591
Autosomal Agammaglobulinemia
Neutropenia, Hepatitis, Agammaglobulinemia ORPHA:33110
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia, Decreased circulating IgG level OMIM:608809
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Decreased circulating total IgM, Pancreatic hypoplasia, Hepatomegaly, Severe B ly... ORPHA:83617
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia, Autoimmune th... ORPHA:227982
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Bone marrow hypocellularity, Increased circulating IgM level, Splenomegaly, Neutropen... OMIM:617303
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Thymic Tumor
Dysgammaglobulinemia, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:100100
Popov-Chang syndrome
Lymphopenia, Decreased circulating antibody level OMIM:618428
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increa... OMIM:615934
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hepatomegaly, Decreased circulating antibody level OMIM:226300
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Thymoma
Abnormal lymphocyte proliferation, Leukemia, Abnormal lymphocyte physiology, Imbalanced hemoglobi... ORPHA:99867
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of the thymus, Decreased circulating IgA level, Leukemia OMIM:208910
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Hemolyt... OMIM:614034
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Thrombocytopenia, Increased circulating antibody level, Hepatitis... ORPHA:319218
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... ORPHA:420741
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... ORPHA:29073
Nijmegen Breakage Syndrome
T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, B lymphocytopenia, Thromboc... OMIM:251260
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypoplastic spleen, Abnormality of the liver, He... ORPHA:699
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Eosinophilia, T lymphocytopenia, Increased circula... ORPHA:443811
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cel... OMIM:242900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Increased circul... ORPHA:77259
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 56
Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Cholangitis OMIM:615207
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Chol... ORPHA:562639
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Portal hypertension, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, H... OMIM:613385
Prolidase Deficiency
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Prolonged neonatal jaun... OMIM:170100
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Cystic Echinococcosis
Eosinophilia, Abnormality of the pancreas, Biliary tract obstruction, Hepatomegaly, Jaundice, Inc... ORPHA:400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Portal hypertension, Hepatosplenomegaly, T... OMIM:615688
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Splenomegaly, Hepatomegaly, Impaired T cell function, Cirrhosis, Decre... OMIM:614576
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Increased circulating IgE level, Cutaneous abscess OMIM:147060
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Abn... ORPHA:449432
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Splenomegaly... ORPHA:2137
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Whim Syndrome
Lymphadenitis, Decreased circulating antibody level, Neutropenia, Abnormality of neutrophil morph... ORPHA:51636
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Vacuolated lymphocytes OMIM:248500
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Abnormality of the thymus, Decrease... OMIM:242840
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Leukocytosis, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Bone marrow hypocellularity, Inc... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating antibody level OMIM:606056
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Lassa Fever
Increased circulating IgM level ORPHA:99824
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytos... OMIM:618278
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Acute leukemi... ORPHA:3226
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Hypochromic anemia, Increased circulating IgG level, Leukocytosis, T... OMIM:618213
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Rift Valley Fever
Anemia, Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG level ORPHA:319251
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Increased circulating IgM level ORPHA:79139
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody le... ORPHA:79329
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Decreased circulating IgA level, Hepatomegaly, Splenomegaly OMIM:613327
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic steatosis, Thrombocytosis, Decreased circulating IgA lev... OMIM:212065
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Hepatomegaly, Cholestasis, Asplenia OMIM:615415
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Splenomegaly, Hepatomegaly, ... ORPHA:84064
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Cutaneous... ORPHA:555905
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cholangitis, Cutaneous ab... ORPHA:284
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Brucellosis
Leukopenia, Leukocytosis, Increased circulating IgG level, Lung abscess, Thrombocytosis, Increase... ORPHA:1304
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Caffey Disease
Increased circulating antibody level ORPHA:1310
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency 58
Decreased T cell activation, Cutaneous abscess, Decreased circulating antibody level, Decreased s... OMIM:618131
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Primary Sjögren Syndrome
Decreased serum complement C4, Biliary cirrhosis, Leukopenia, Normocytic anemia, Chronic hepatiti... ORPHA:289390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, N... ORPHA:391487
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Transient hypogammaglobulinemia ... ORPHA:3132
Coccidioidomycosis
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Granuloma, Abnorm... ORPHA:228123
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
C3 Glomerulopathy
Decreased serum complement C4, Decreased serum complement C3, Paraproteinemia ORPHA:329918
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Leukemia, Normocytic anemia, Splenomegaly, Abnormality o... ORPHA:33226
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Hennekam Syndrome
Lymphangioma, Splenomegaly, Decreased circulating antibody level, Pulmonary lymphangiectasia, Lym... ORPHA:2136
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Increased circulating IgE level ORPHA:2902
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... ORPHA:79078
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Chronic hepatitis, Iron deficiency anemia, Hepatitis, Asplenia... OMIM:269200
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level OMIM:607143
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepatomegaly, Asplenia... OMIM:208540
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Splenomegaly, Abscess, Granuloma, Hemolytic anemia, Perianal abscess, Impaire... OMIM:618935
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Pancreatic cysts, Decreased circulating antibody ... OMIM:274000
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Increased circulating IgG level, Increased circulating Ig... ORPHA:99827
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Aplastic anemia, Acute lymphobl... OMIM:223370
Nephrotic Syndrome, Type 14
Lymphopenia, Hypertriglyceridemia OMIM:617575
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Lysinuric Protein Intolerance
Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Decreased circulating antibody level, Thrombocy... ORPHA:470
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangiocarcinoma, Abnorma... ORPHA:171
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Thrombocy... ORPHA:77261
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia, Decreased circulating IgG level OMIM:271510
Yellow Fever
Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,... ORPHA:99829
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatomegaly, Jaundice, Decreased circulating... ORPHA:247598
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Splenomegaly ORPHA:829
Igg4-Related Kidney Disease
Decreased serum complement C4, Eosinophilia, Increased circulating IgG1 level, Sclerosing cholang... ORPHA:449395
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymphopenia, Decre... ORPHA:1830
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Cartilage-Hair Hypoplasia
Abnormality of the pancreas, Hepatomegaly, Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Aspergillosis
Neutropenia, Eosinophilia, Increased circulating IgE level ORPHA:1163
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Neutrophilia, Hepatomegaly, Anemia, Abnormal isohemagglutinin level ORPHA:99843
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Increased circulating IgG level, Leukopenia, Increased circulating IgA level, ... ORPHA:2298
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Asplenia, Chronic active hepatitis OMIM:240300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology OMIM:618223
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Increased circulating IgA level, Neutrophilia, Splenomegaly, In... OMIM:260920
Trichothiodystrophy
Neutropenia, Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration ORPHA:33364
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Asplenia OMIM:619123
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Increased circulating IgE level ORPHA:2314
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Feingold Syndrome 1
Annular pancreas, Polysplenia, Asplenia, Accessory spleen OMIM:164280
Microgastria-Limb Reduction Defects Association
Biliary tract abnormality, Absent gallbladder, Splenogonadal fusion, Asplenia OMIM:156810
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Abscess OMIM:612852
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Anemia, Chronic lymphatic le... ORPHA:3243
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia ORPHA:2905
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Q Fever
Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Anemia, Granuloma, Cryogl... ORPHA:781
Fusariosis
Lung abscess, Neutropenia, Granuloma, Abnormality of the spleen, Lymphopenia, Brain abscess ORPHA:228119
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Autoimmune hemol... ORPHA:37042
Gaisböck Syndrome
Increased hematocrit, Cholecystitis, Increased mean corpuscular hemoglobin concentration, Increas... ORPHA:90041
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE level, Abnormality of humoral ... ORPHA:330015
Al Amyloidosis
Increased circulating antibody level, Anemia, Howell-Jolly bodies ORPHA:85443
Meckel Syndrome, Type 1
Accessory spleen, Bile duct proliferation, Splenomegaly, Asplenia, Malformation of the hepatic du... OMIM:249000
Wiskott-Aldrich Syndrome