Gene Summary

Name:
Bruton agammaglobulinemia tyrosine kinase
Synonyms:
Bruton's tyrosine kinase,  X-linked immune deficiency,  xid

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mature B cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 3.91×10-06
decreased erythrocyte cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 3.68×10-05
increased CD4-positive, alpha beta T cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 5.04×10-09
increased CD8-positive, alpha-beta T cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 2.48×10-06

Download data as:  TSV  XLS

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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 Btk 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 Btk by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Agammaglobulinemia
Autoimmunity, Recurrent pneumonia, Sinusitis, Agammaglobulinemia, Arthritis, Thrombocytopenia, Ch... ORPHA:47
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200

The table below shows human diseases predicted to be associated to Btk 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
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
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
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Eczema, Recu... OMIM:300988
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 40
Lymphopenia OMIM:616433
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infect... OMIM:616022
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, B lymphocytope... ORPHA:169079
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Decreased prop... ORPHA:70593
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Hepatomegaly, Imp... OMIM:607594
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Reduced natural k... OMIM:619281
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased proportion of memory T cells, Incr... OMIM:618982
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Decreased proportion of class-switched memory B cells, Increased... OMIM:615767
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Autoimmunity, Decreased specific pneumococcal antibody level, Colitis, I... OMIM:617006
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibo... OMIM:615285
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, B lymphocytopenia, Abnormality of humoral immunity, L... ORPHA:277
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, Protracted diarrhea, Autoimmune hemolytic anemia, Decreased proportio... ORPHA:572
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Perinuclear antineutrophil antibody positivity, Decreased... OMIM:618394
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Impaired neutrophil chemotax... OMIM:619374
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Meningitis... OMIM:616740
Pulmonary Nodular Lymphoid Hyperplasia
Autoimmune antibody positivity, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Agamma... OMIM:209920
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of memory ... OMIM:619510
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 37
Recurrent infections, Colitis, Infectious encephalitis, Decreased circulating antibody level, Dec... OMIM:616098
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopeni... OMIM:619164
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytope... OMIM:614470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... OMIM:619220
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent infections, Recurrent skin infections, Erythema nodosum, Hemophagocytosis... OMIM:300635
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Impaired Ig cl... OMIM:605258
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Rheumatoid factor positive, Acute pancr... OMIM:618935
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:169154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune thrombocytopenia, Au... OMIM:616100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Increased circul... OMIM:618495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Systemic lu... ORPHA:444463
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Skin rash, Lupus anticoagulant, Colitis, Thrombocytopenia, Hemolytic anemia, Antinuc... OMIM:616744
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
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
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 92
Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased circulating IgA level, A... OMIM:619652
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Severe Epstein Barr virus infecti... OMIM:308240
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent infections, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... OMIM:619752
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Aplastic anemia, Recurrent sinopulmonary infections, Lymphopenia, ... ORPHA:486
Immunodeficiency 55
Recurrent infections, Recurrent skin infections, Neutropenia, Eczema, Diarrhea OMIM:617827
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233710
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hepatospleno... ORPHA:35078
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Platelet antibody positive OMIM:188030
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Chronic... ORPHA:911
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Inc... OMIM:619632
3-Methylglutaconic Aciduria, Type Viib
Neutropenia, Recurrent infections, Feeding difficulties OMIM:616271
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:300853
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thyroidit... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233690
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Arthritis, Coombs-positive hemolytic anemia, Severe infection, Autoimmune th... OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Autosomal Agammaglobulinemia
High palate, Sinusitis, Recurrent infections, Recurrent skin infections, Agammaglobulinemia, Arth... ORPHA:33110
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Acute lymphoblastic leukemia OMIM:610738
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections, Arthritis, Colitis, Inflammation of the la... OMIM:608809
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... OMIM:137100
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Eosinophilia, Increased circulating IgG level, Decreased proport... OMIM:243700
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recu... ORPHA:275
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
X-Linked Agammaglobulinemia
Autoimmunity, Recurrent pneumonia, Sinusitis, Agammaglobulinemia, Arthritis, Thrombocytopenia, Ch... ORPHA:47
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Iron defici... OMIM:603909
Felty Syndrome
Abnormal lymphocyte morphology, Autoimmunity, Recurrent pneumonia, Sinusitis, Bone marrow hypocel... ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Diarrhea, Sclero... OMIM:308230
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:100025
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... OMIM:615559
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Recurrent bronchitis, Enterocutaneous fistula, Enterocolitis, P... OMIM:612567
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Agammaglobulinemia, Interface hepatitis, Autoimmune hemolytic anemia, Intestinal at... OMIM:243150
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Severe infection, Peritonitis, ... ORPHA:2686
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Sp... OMIM:619375
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Splenomegaly, Hepatomegaly, Impaired T cell function, Decreased ... OMIM:240500
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Neutropenia, Abnormal intestine morphology, Secretory ... OMIM:600351
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis, Skin rash OMIM:603552
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Reduced natural killer cell activity, Splenomegaly... OMIM:616050
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:608184
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Recurrent infections, Leukopenia, Folate-responsive megaloblasti... OMIM:229050
Immunodeficiency 31C
Autoimmunity, Autoimmune hemolytic anemia, Eczema, Recurrent respiratory infections, Abnormal int... OMIM:614162
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin ORPHA:542592
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Iron deficiency anemia, Insulin receptor antibody posi... ORPHA:37042
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Immunodeficiency 23
Rheumatoid factor positive, Lymphopenia, Chronic mucocutaneous candidiasis, High palate, Molluscu... OMIM:615816
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmunity, Recurrent upper respiratory tract infections, He... OMIM:615952
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Increased circulating IgE level, Cutaneous abscess OMIM:147060
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Recurrent infections, Thrombocytosis, Megaloblas... OMIM:617780
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Decreased circulating total IgM, De... ORPHA:90362
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
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections... OMIM:617475
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Autoimmunity, Recurrent cutaneous abscess formation, Pneumonia, S... ORPHA:229717
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Bone marrow hypocellularity, Neutropenia, Anemia, Recurren... OMIM:618849
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:306400
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Anemia, Thrombocyt... OMIM:618116
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Immunodeficiency 36
Autoimmunity, Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level,... OMIM:616005
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Comple... ORPHA:449400
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
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Aplasia/Hyp... ORPHA:33355
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Steatorrhea OMIM:618752
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Splenomegaly, Increased pro... ORPHA:98848
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Decreased circula... OMIM:615122
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Hepatomegaly, Jaundice, Decreased circulating antibody level, Decreased propor... OMIM:301045
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Gastroin... ORPHA:98850
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... ORPHA:293978
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia, Gout, Recurrent infections OMIM:617056
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Increased circulating IgA level,... OMIM:600903
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Rheumatoid factor positive, Splenomegaly, Recurrent tonsillitis, Hepatomegaly,... OMIM:618852
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholecystitis, Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic ... OMIM:613470
Thymic Aplasia
Autoimmunity, Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Recur... ORPHA:83471
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Gastrointestinal hemorr... ORPHA:2137
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczem... OMIM:613960
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia, Arthritis OMIM:604250
Immunodeficiency 58
Recurrent aphthous stomatitis, Dysphagia, Esophagitis, Chronic mucocutaneous candidiasis, Recurre... OMIM:618131
Lichtenstein Syndrome
Neutropenia, Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level OMIM:246550
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, A... OMIM:613179
Macrophage Activation Syndrome
Autoimmunity, Hemophagocytosis, Increased inflammatory response, Splenomegaly, Abnormal natural k... ORPHA:158061
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... ORPHA:169160
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Hepatic steatosis, Chronic de... OMIM:300972
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Nausea and vomiting, Sepsis, Pancreatitis, Thrombocytopenia ORPHA:289916
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Bronchiectasis, Recurrent respiratory... OMIM:608957
C1Q Deficiency
Autoimmunity, Recurrent infections, Membranoproliferative glomerulonephritis, Systemic lupus eryt... OMIM:613652
Chediak-Higashi Syndrome
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Spl... OMIM:214500
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Meningitis, Neutropenia in presence of anti-neutropil antibodies, Se... ORPHA:464370
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells, Recurrent respiratory infectio... OMIM:615758
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Autoimmune antibody positivity, Cutaneous ab... ORPHA:555905
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocyt... ORPHA:88
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Colon cancer, Acute myeloid ... ORPHA:158057
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal platelet granules, Neutropenia, Thrombocytopenia ORPHA:238459
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... ORPHA:221139
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Feeding difficulties, Anorexia, Neutropenia, Anemia, Abdominal pain, Nausea and vom... ORPHA:79312
Pelger-Huet Anomaly
Recurrent otitis media, Median cleft palate, Giant platelets, Abnormality of neutrophils, Neutrop... OMIM:169400
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Increased circulating IgE level ORPHA:2902
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Recurrent viral infections, Eosinophilic liver infiltration, Co... OMIM:618999
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangit... ORPHA:183675
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy OMIM:618048
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Severe infection, Severe cytomegalovirus infection, Splenomegaly,... ORPHA:158048
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibo... ORPHA:48104
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Hemoly... OMIM:152700
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or near-complete a... OMIM:613496
Neonatal Lupus Erythematosus
Pancytopenia, Hepatic failure, Autoimmune antibody positivity, Maculopapular exanthema, Splenomeg... ORPHA:398124
Barth Syndrome
Neutropenia, Recurrent infections in infancy and early childhood, Granulocytopenia OMIM:302060
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Feeding difficulties, Poor suck OMIM:617248
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:612301
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level ORPHA:83313
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Hepatitis, Inflammatory abnormality of the skin, Villous atrophy, Re... ORPHA:391487
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Hemophagocytosis, Infectious encephalitis, Maculopapular ex... ORPHA:540
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Neutropenia, Anemia, Congenital thrombocytopenia, Cleft palate OMIM:616738
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Constipation, Megaloblastic anemia, Abnorma... ORPHA:35858
Retinal Venous Beading
Neutropenia, Nephritis OMIM:180080
Juvenile Arthritis
Thrombocytosis, Antinuclear antibody positivity, Leukocytosis, Skin rash OMIM:618795
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:615577
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Increased circulating... ORPHA:411593
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Chédiak-Higashi Syndrome
Pancytopenia, Recurrent streptococcal infections, Abnormal leukocyte morphology, Anemia, Abnormal... ORPHA:167
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Aspergillosis
Eosinophilia, Sinusitis, Pneumonia, Invasive pulmonary aspergillosis, Infectious encephalitis, Me... ORPHA:1163
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Impaired ADP-induced platelet aggregation, Recurrent otitis media, H... OMIM:608233
Linear Iga Dermatosis
Autoimmunity, Inflammation of the large intestine ORPHA:46488
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production, Cleft palate OMIM:614900
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia, Dysphagia, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia, Dysphagia, Vomiting OMIM:613412
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Antimitochondrial antibody positivity, U... ORPHA:562639
Thymoma
Autoimmunity, Neoplasm of the gastrointestinal tract, Myositis, Leukemia, Glomerulonephritis, Imb... ORPHA:99867
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent infections, Inflammation of the large intestine, Lymphocytosis, Thrombocytopenia, Decre... OMIM:617718
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Infectious encephaliti... ORPHA:292
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:210900
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgA level, Autoimmune h... OMIM:617388
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Decreased circulat... ORPHA:381
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, Th... ORPHA:811
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Leukopenia, Monocytosis, Recurrent bacterial infections, Splenomegaly, Neutropenia, ... OMIM:612541
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Recurrent infections, Hepatosplenomegaly, Cholangitis, Gastrostomy tu... ORPHA:228426
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Hypochromic anemia, Increased circulating IgG level, Leukocytosis, T... OMIM:618213
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Abdominal distention, Seborrheic dermatitis, Stomatitis,... OMIM:246400
Wiskott-Aldrich Syndrome
Microcytic anemia, Autoimmunity, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platele... ORPHA:906
Onychotrichodysplasia And Neutropenia
Recurrent infections, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia, Lympho... OMIM:258360
Fusariosis
Sinusitis, Myositis, Pneumonia, Lung abscess, Arthritis, Peritonitis, Maculopapular exanthema, On... ORPHA:228119
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level, Feeding difficulties, Meckel diverticulum,... OMIM:616395
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Good Syndrome
Decreased circulating antibody level, Abnormal leukocyte morphology, Anemia, Aplasia/Hypoplasia o... ORPHA:169105
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Decreased circulating antibody level, Cholestasis ORPHA:1296
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Macroglossia OMIM:251900
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Decreased c... ORPHA:79330
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Leukopenia, Bone marrow hypocellularity, Thrombocyt... ORPHA:508542
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, T lymphocytopenia, Recurrent otitis media, Pneumonia, Autoimmune thrombocytopenia, ... OMIM:607944
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis ORPHA:280785
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Decreased circulating total IgG, Anemia, Hep... OMIM:619381
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Increased circulating IgG level, Thrombocytosis, Increased circulating IgA level, Ane... OMIM:615934
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Lymphocytosis ORPHA:79087
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Roifman Syndrome
Decreased circulating antibody level, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Bloody mucoid diarrhea, Tenesmus, Ulcer... ORPHA:810
Necrotizing Enterocolitis
Bloody diarrhea, Leukocytosis, Peritonitis, Neutropenia, Abdominal distention, Neonatal sepsis, T... ORPHA:391673
Schimke Immunoosseous Dysplasia
Recurrent infections, Abnormal immunoglobulin level, Protuberant abdomen, Thrombocytopenia, Neutr... OMIM:242900
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Nausea and vomiting ORPHA:79477
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Recurrent infections, Bone marrow hypocellularity, Abnormal proportion of naive CD4... ORPHA:1830
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Aganglionic megacolon, Impaired lymphocyte transformation with phy... OMIM:250250
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Feeding difficulties, Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Propionic Acidemia
Pancytopenia, Feeding difficulties in infancy, Constipation, Neutropenia, Anemia, Eczema, Pancrea... OMIM:606054
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Increased circulating IgG4 level, Increased circul... ORPHA:449432
Sepsis In Premature Infants
Leukocytosis, Severe infection, Gastrointestinal dysmotility, Splenomegaly, Decreased liver funct... ORPHA:90051
Diamond-Blackfan Anemia 7
Recurrent otitis media, Recurrent infections, Neutropenia, Increased mean corpuscular volume, Mac... OMIM:612562
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Nijmegen Breakage Syndrome
T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, B lymphocytopenia, Thromboc... OMIM:251260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Splenomegaly OMIM:615846
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Sweet Syndrome
Sterile abscess, Recurrent infections, Myositis, Leukocytosis, Acne inversa, Neutrophilia, Acute ... ORPHA:3243
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Enterocolitis
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:507
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Constrictive pericarditis, Leukocytosis, Lung abscess, Gastrointestinal dysmotil... ORPHA:67
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Anorexia, Neutropenia, Anemia, Abdomin... ORPHA:520
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hypereosinop... ORPHA:508533
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Methylmalonic Acidemia With Homocystinuria Type Cblf
Recurrent infections, Megaloblastic anemia, Feeding difficulties, Neutropenia, Stomatitis, Cleft ... ORPHA:79284
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... ORPHA:169090
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Aganglionic megacolon, Abnormality of the small intes... ORPHA:95427
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Cleft palate ORPHA:398189
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve... ORPHA:90363
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Recurrent infections, Decreased proportion of CD3-positive T cells, Autoimmune thro... ORPHA:760
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Leukopenia, Bone marrow hypocellularity, Increased circulating IgM level, Sp... OMIM:617303
Poikiloderma With Neutropenia
Recurrent otitis media, Blepharitis, Leukopenia, Recurrent pneumonia, Splenomegaly, Neutropenia, ... OMIM:604173
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Increased circulating IgE level ORPHA:2314
Thymic Tumor
Dysgammaglobulinemia, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:100100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, High palate, Feeding difficulties in infancy, Megaloblastic anemia, Neutropenia, St... OMIM:277380
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Hemophagocytosis, Splenomegaly, Anemia OMIM:618398
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
High palate, Bone marrow hypocellularity, Neutropenia, Anemia, Thrombocytopenia OMIM:614520
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Decreased circulating antibod... ORPHA:586
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Invasive fungal infection, Hematemesis, Hepatitis, Pancreati... ORPHA:73263
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Acute myeloid leukemia, Abnorma... ORPHA:125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Nausea, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic mye... ORPHA:98849
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Intermittent diarrhea, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Ma... OMIM:619644
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differentiation, D... OMIM:208900
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibo... ORPHA:1572
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, High palate, Recurrent infections, Normocytic anemia, Neutrope... OMIM:617941
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Acne, Inflammation of the large intestine, Anemia, Osteomyelitis, Psoriasiform dermatitis, Poor a... ORPHA:324964
Cold Agglutinin Disease