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Gene: Btk MGI:88216

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 erythrocyte cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 3.68×10-05
decreased mature B cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 3.91×10-06
increased CD8-positive, alpha-beta T cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 2.48×10-06
increased CD4-positive, alpha-beta T cell number Btktm1a(EUCOMM)Hmgu HEM   Early adult 5.04×10-09

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
Conjunctivitis, Anemia, Osteomyelitis, Glossoptosis, Hepatitis, Skin rash, Arthritis, Malabsorpti... ORPHA:47
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Diarrhea, Prostatitis, Enteroviral de... OMIM:307200

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly OMIM:606445
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Eczema, Ly... OMIM:300988
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... OMIM:245480
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... OMIM:607271
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Diarrhea, Recurrent bronc... OMIM:613501
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... OMIM:613502
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen... OMIM:613494
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Recurrent respiratory i... OMIM:615214
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
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, Plasmacytosis, Lymphopenia OMIM:247800
Whim Syndrome 2
Chronic neutropenia, Recurrent gingivitis, Severe infection OMIM:619407
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:615767
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia, Periodontitis OMIM:162700
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra... OMIM:617006
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Increased circulating interleukin 6 concen... OMIM:301082
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Recurrent bacterial infections, Abnorm... ORPHA:2688
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent... OMIM:616740
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Ulcerative co... OMIM:618394
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infec... OMIM:202700
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity ORPHA:60026
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Diarrhea, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, ... ORPHA:572
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Ulcerative colitis, Leukocytosis, Bloody diarrhea OMIM:619398
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... OMIM:619510
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Disseminated molluscum contagiosum, Severe cytom... OMIM:617638
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Villous atrophy, Recurrent urinary tract infections, Malabsorption, Chr... OMIM:209920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Eczema, Recurrent bacterial infections, Neutropenia OMIM:300299
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... OMIM:193670
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Masp2 Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis OMIM:613791
Immunodeficiency 76
Chronic diarrhea, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Colitis... OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune... OMIM:619220
Lymphoproliferative Syndrome, X-Linked, 2
Erythema nodosum, Hepatitis, Folliculitis, Decreased circulating antibody level, Pancytopenia, In... OMIM:300635
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Increased circulating... ORPHA:277
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating antibody ... OMIM:614470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Chronic diarrhea, Increased circulating antibody level, Recurrent infections,... OMIM:615285
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency 21
Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer... OMIM:614172
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Trimethylaminuria
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, BCGitis, Recurrent respira... OMIM:226990
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... OMIM:301081
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ulcerative colitis... OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, Decreased circulating antibo... OMIM:618108
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Lupus anticoagulant, Colitis, Thrombocytop... OMIM:616744
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating IgG2 level, Decreased circulating IgG4 level, Decreased... OMIM:300310
Myelolymphatic Insufficiency
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent sinusitis, Hepatospl... OMIM:618986
Immunodeficiency 7
Hypereosinophilia, Persistent EBV viremia, Severe varicella zoster infection, Chronic oral candid... OMIM:615387
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... OMIM:613860
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... ORPHA:444463
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Diarr... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Bronchioli... OMIM:266265
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jiroveci... OMIM:301078
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, C... OMIM:601859
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Diarrhea, Acute lymphoblastic leukemia, Eosinophilia, Recurrent skin infe... ORPHA:486
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Recurrent enteroviral infections, Panhypogammaglobulinemia, Neutropenia, Bronchie... OMIM:601495
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... ORPHA:100024
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Immunodeficiency 108 With Autoinflammation
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Abdominal pain, Hyposegmentation o... OMIM:260570
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233710
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Eosinophilia, Chronic diarrhea, Colitis, Recurrent viral infections, Pneumoni... ORPHA:911
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Severe Epstein Barr virus infection, Infectious encephalitis, Neutropenia, Fulmi... OMIM:308240
Folate Malabsorption, Hereditary
Leukopenia, Diarrhea, Malabsorption, Feeding difficulties in infancy, Recurrent infections, Throm... OMIM:229050
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233690
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... ORPHA:443811
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Chronic diarrhea, Thrombocytopenia, Pneumonia, Sple... OMIM:614700
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Chronic diarrhea, Severe infection, Anti-glutamic acid decarboxylase antibody positivity,... OMIM:304790
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Diarrhea, Bronchiectasis, High palate, Hepatitis, Arthritis, Skin ... ORPHA:33110
Neonatal Alloimmune Neutropenia
Severe infection, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Pneumonia, Se... ORPHA:464370
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent otitis m... OMIM:618204
Immunoglobulin A Deficiency 1
Malabsorption, Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent res... OMIM:137100
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... OMIM:243700
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Glossoptosis, Hepatitis, Skin rash, Arthritis, Malabsorpti... ORPHA:47
Felty Syndrome
Splenomegaly, Rhinitis, Anemia, Sepsis, Recurrent respiratory infections, Recurrent urinary tract... ORPHA:47612
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Eosinophilia, Elevated proportion of CD4-negative, CD8-negative... OMIM:603909
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Sclerosing cholangitis, Meningitis, Thrombocytopenia, Impaired memory B cell generation... OMIM:308230
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... ORPHA:275
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Increased circulating IgM level, Histio... OMIM:209950
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Duode... OMIM:243150
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini... OMIM:615559
Cyclic Neutropenia
Enterocolitis, Perianal abscess, Periodontitis, Opportunistic infection, Severe infection, Abdomi... ORPHA:2686
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Recurrent bronchitis, Enterocutaneous ... OMIM:612567
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... OMIM:240500
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Chronic infection, Norm... ORPHA:75564
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Increased circulating IgA level, Decreased proportion... OMIM:618048
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, V... OMIM:616050
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Myeloma, Multiple
Paraproteinemia OMIM:254500
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... OMIM:102700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin ORPHA:542592
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 23
Bronchiectasis, Recurrent Staphylococcus aureus infections, Eczema, Recurrent staphylococcal infe... OMIM:615816
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Arthritis, Sterile arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thr... OMIM:604416
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... OMIM:608184
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... ORPHA:37042
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... ORPHA:90362
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Achalasia, Decreased circulating antibody level, Interstitial pneumonitis, Neutropenia in presenc... OMIM:615952
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Cutaneous abscess, Eosinophilia OMIM:147060
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased... OMIM:275350
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... OMIM:602450
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 40
Rectal fistula, Intermittent diarrhea, Chronic oral candidiasis, T lymphocytopenia, Severe varice... OMIM:616433
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Decrease... OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly OMIM:618495
Bone Marrow Failure Syndrome 6
Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of... OMIM:618849
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Autoimmune antibody positivity, Bone marrow hypocellular... ORPHA:88
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hepatomegaly, Splenomegaly ORPHA:37748
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:306400
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Intractable diarrhea, Recurr... OMIM:617475
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:276
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Feeding difficulties in infancy, Neutropenia, Steatorrhea OMIM:618752
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Vomiting, Megaloblastic anemia, Decreased circulating antibody level, Autoimmun... OMIM:617780
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Reticular Dysgenesis
Leukopenia, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Isolated Agammaglobulinemia
Anemia, Sepsis, Diarrhea, Recurrent respiratory infections, Malabsorption, Skin rash, Inflammator... ORPHA:229717
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... OMIM:619767
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... OMIM:313900
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... OMIM:301045
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Aggressive Systemic Mastocytosis
Anemia, Neutropenia, Diarrhea, Malabsorption, Hypersplenism, Abdominal pain, Abdominal cramps, Pa... ORPHA:98850
Indolent Systemic Mastocytosis
Skin rash, Abdominal cramps, Mastocytosis, Increased proportion of CD25+ mast cells, Maculopapula... ORPHA:98848
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Cutaneous abscess, Decreased circulating IgA level, Eosinophilia, Increased circ... OMIM:618282
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularit... OMIM:615190
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... ORPHA:3261
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Anemia, Neutropenia, Recurrent infections OMIM:617056
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Recurrent bronchitis, Autoimmunity, Nephritis OMIM:216950
Autoinflammation With Episodic Fever And Lymphadenopathy
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... OMIM:618852
Immunodeficiency 13
Recurrent shingles, Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia... OMIM:615518
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Impaired neutrophil bactericidal activity, Nonsphero... OMIM:613470
Immunodeficiency 47
Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu... OMIM:300972
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Immunodeficiency 58
Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Chronic diarrhea, Dysphagia, Colit... OMIM:618131
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... OMIM:613179
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent viral ... OMIM:608957
Thymic Aplasia
Opportunistic infection, T lymphocytopenia, Diarrhea, Recurrent Staphylococcus aureus infections,... ORPHA:83471
Autoimmune Hepatitis
Antinuclear antibody positivity, Fulminant hepatitis, Increased circulating antibody level, Arthr... ORPHA:2137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Nausea and vomiting, Thrombocytopenia, Neutropenia, Pancreatitis, Sepsis ORPHA:289916
Hemochromatosis, Type 3
Arthritis, Anemia, Neutropenia, Lymphopenia OMIM:604250
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Juvenile rheumatoid arthritis, Hepatitis... ORPHA:158061
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Diarrhea, Arthritis, Skin rash, Lymphocytosi... OMIM:301074
Chilblain Lupus
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Discoid lupus ... ORPHA:90280
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Iga Pemphigus
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Ulcerative coliti... ORPHA:555905
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Leukopenia, Anemia, ... OMIM:214500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Persistent EB... ORPHA:158057
C1Q Deficiency 1
Recurrent infections, Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulo... OMIM:613652
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Nausea and vomiting, Abdominal pain, Pancreatitis, Anorexia, Feeding difficulties, Thromb... ORPHA:79312
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Slc35A1-Cdg
Pneumonia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia ORPHA:238459
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pelger-Huet Anomaly
Eczema, Recurrent otitis media, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei... OMIM:169400
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Wiskott-Aldrich Syndrome
Diarrhea, Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper ... OMIM:301000
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis ORPHA:2902
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:617243
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eosinophilia, Recurren... OMIM:618999
Whim Syndrome
Lymphadenitis, Neutropenia, Bronchiectasis, Abnormality of neutrophil morphology, Decreased circu... ORPHA:51636
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Tempi Syndrome
Increased hematocrit, Increased circulating IgG level, Polycythemia ORPHA:284227
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Bronchiectasis, Diarrhea, Eczema, Hepatosplenomegaly, Abnormal intestine morph... ORPHA:391487
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ... ORPHA:158048
Boutonneuse Fever
Leukopenia, Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... OMIM:300291
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Enterocolitis, Diarrhea OMIM:260005
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Pyoderma Gangrenosum
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... ORPHA:48104
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Congenital thrombocytopenia, Cleft palate, Thrombocytopenia, Neutropenia OMIM:616738
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Recurrent bacterial infections, Thromb... OMIM:603585
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hepatomegaly, Splenomeg... OMIM:612301
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... OMIM:152700
Neonatal Lupus Erythematosus
Malar rash, Anemia, Hepatic failure, Neutropenia, Hemolytic anemia, Skin rash, Pancytopenia, Auto... ORPHA:398124
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... OMIM:266600
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Recurre... ORPHA:2968
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... ORPHA:183675
Developmental Delay, Hypotonia, And Impaired Language
Gastroesophageal reflux, Recurrent pneumonia, Constipation, Feeding difficulties, Neutropenia OMIM:620012
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Erythroderma, Neutropenia, Reduced natural killer cell activity, Decreased circulating an... ORPHA:540
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope... OMIM:620133
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Bloody diarrhea, Skin rash, Lymphocytosis, Hematochezia, Inflammation of the large intestine, Col... OMIM:617718
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating total IgM, Anemia, Decreased circulating I... OMIM:620040
Immunodeficiency 55
Diarrhea, Eczema, Lymphopenia, Recurrent infections, Recurrent skin infections, Neutropenia, Abse... OMIM:617827
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:615577
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Aspergillosis
Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Unusual CNS infection, Invasive pulmonary ... ORPHA:1163
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Vomiting, Megaloblastic anemia, Poor appetite, Anisopoikilocytosis, Abnormal h... ORPHA:35858
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Recurrent staphylococcal infections, Decreased liver function, Thrombocytopen... ORPHA:167
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Cleft palate, Anemia of inadequate production OMIM:614900
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity ORPHA:46488
Esophagitis, Eosinophilic, 1
Esophagitis, Vomiting, Eosinophilia, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Vomiting, Eosinophilia, Dysphagia OMIM:613412
Hermansky-Pudlak Syndrome 2
Gastroesophageal reflux, Reduced natural killer cell count, Decreased CD4:CD8 ratio, Chronic oral... OMIM:608233
Insulin Autoimmune Syndrome
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... ORPHA:411593
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circul... OMIM:617388
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils... ORPHA:381
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Granuloma, Anti-liver cytosolic antigen type 1 antibody positivity, Sc... ORPHA:562639
Thymoma
Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Decreased circulating antibody leve... ORPHA:99867
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Eczema, Bone marrow hy... ORPHA:811
Congenital Enterovirus Infection
Leukopenia, Anemia, Hepatic failure, Neutropenia, Abnormal macrophage morphology, Hepatitis, Skin... ORPHA:292
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Eczema, Meningitis, Chronic diarrhea, Hematemesis, Thrombocytopenia, Se... ORPHA:906
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... OMIM:619350
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... OMIM:617099
Fusariosis
Onychomycosis, Maculopapular exanthema, Brain abscess, Osteomyelitis, Neutropenia, Bronchiectasis... ORPHA:228119
Letterer-Siwe Disease
Anemia, Stomatitis, Abdominal distention, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Sebo... OMIM:246400
Omenn Syndrome
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Recurrent viral infections, Severe... OMIM:603554
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Bronchiectasis, Diarrhea, Bowel irritability, Gastritis, Colitis, Recurrent sk... OMIM:619381
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Lymphopenia, Meckel diverticulum, Increased circulating IgA level, Recurrent in... OMIM:616395
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating antibody level, Hepatosplenomegaly, Decrea... ORPHA:79330
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Chronic irritative conjunctivitis, Recurrent infections, Neut... OMIM:258360
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Gastrostomy tube feeding in infancy, Anti-thyroid peroxidase antibody positivity, Anti-glutamic a... ORPHA:228426
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Cholestasis, Decreased circulating antibody level ORPHA:1296
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Good Syndrome
Thymoma, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Mediasti... ORPHA:169105
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno... ORPHA:353298
Bone Marrow Failure And Diabetes Mellitus Syndrome
Anti-glutamic acid decarboxylase antibody positivity, Anti-islet antigen-2 antibody positivity, P... OMIM:620044
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Panniculitis, Cleft palate, Throm... OMIM:612541
Propionic Acidemia
Anemia, Vomiting, Poor appetite, Feeding difficulties in infancy, Eczema, Pancytopenia, Constipat... OMIM:606054
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Decreased circulating IgA level, Increased ... OMIM:242860
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Decreased circulating antibody level ORPHA:100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Eczema, Lymphopenia, Recurrent upper re... ORPHA:508542
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Diarrhea, Prostatitis, Enteroviral de... OMIM:307200
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Hepatic fibrosis, Decreased circulating total IgM, Exocrine pancreatic insufficiency, Lym... OMIM:620005
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Neutropenia, Rheumatoid arthritis, Juvenile rheumatoid arthritis, Recurrent re... OMIM:607944
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia, Decreased circulating antibody level OMIM:619750
Griscelli Syndrome Type 2
Nausea and vomiting, Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Schimke Immuno-Osseous Dysplasia
Anemia, Minimal change glomerulonephritis, Autoimmunity, Lymphopenia, Abdominal distention, Abnor... ORPHA:1830
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Increased circulating IgA level, Thrombocytosis, Increased circu... OMIM:615934
Necrotizing Enterocolitis
Bloody diarrhea, Vomiting, Diarrhea, Neonatal sepsis, Abdominal distention, Thrombocytopenia, Leu... ORPHA:391673
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449432
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Shigellosis
Bloody diarrhea, Tenesmus, Thrombocytopenia, Pneumonia, Acute colitis, Abscess, Splenic abscess, ... ORPHA:810
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Jaundice... ORPHA:79124
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... OMIM:615550
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... ORPHA:100026
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Sepsis In Premature Infants
Anemia, Vomiting, Enterocolitis, Diarrhea, Severe infection, Neonatal sepsis, Functional abnormal... ORPHA:90051
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level OMIM:618165
Sweet Syndrome
Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Chronic lymphatic leukemia, Acne... ORPHA:3243
Diamond-Blackfan Anemia 7
Recurrent otitis media, Recurrent infections, Macrocytic anemia, Esophagitis, Increased mean corp... OMIM:612562
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Autoimmunity ORPHA:79087
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Leukopenia, Vomiting, Thrombocytopenia, Neutropenia, Pancreatitis OMIM:251000
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... ORPHA:507
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Chronic infection, Abdominal pain, Stomatitis, Pancytopenia, Anorexia, Leukoc... ORPHA:520
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Cartilage-Hair Hypoplasia
Anemia, Esophageal atresia, Malabsorption, Aganglionic megacolon, Lymphopenia, Impaired lymphocyt... OMIM:250250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Bronchiectasis, Dysphagia, Feeding difficulties, Neutropenia OMIM:618253
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Amoebiasis Due To Entamoeba Histolytica
Anemia, Bloody diarrhea, Diarrhea, Liver abscess, Abdominal pain, Lung abscess, Protracted diarrh... ORPHA:67
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Abnormal mast cell morphology ORPHA:398189
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... ORPHA:508533
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Decreased cir... ORPHA:90363
Lead Poisoning
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased circulating IgE le... ORPHA:330015
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Poikiloderma With Neutropenia
Conjunctivitis, Leukopenia, Skin rash, Recurrent bronchopulmonary infections, Recurrent sinusitis... OMIM:604173
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Skin rash, Stomatitis, Glossitis, Recurrent infections, Cleft palate, Feedi... ORPHA:79284
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, High palate, Skin rash, Stomatitis, Pancytopenia, Glossitis, Trache... OMIM:277380
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Nausea and vomiting, Chronic otitis media, Abnormal neutrophil ... ORPHA:3226
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Esophageal stricture, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Or... OMIM:613989
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Zygomycosis
Brain abscess, Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Unusual gastro... ORPHA:73263
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, High palate, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Macr... OMIM:617303
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Thrombocytopenia, Feeding difficulties, Neutropenia, Normochromic anemia OMIM:614857
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent mycobacterial infections, Hemolytic anemia, Autoimmunity, ... ORPHA:169090
Barth Syndrome
Recurrent infections in infancy and early childhood, Recurrent bronchitis, Hypochromic microcytic... OMIM:302060
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Thymic Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Dysgammaglobulinemia ORPHA:100100
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, Re... OMIM:613960
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Bloom Syndrome
Acute myeloid leukemia, Decreased circulating total IgM, Decreased circulating antibody level, Ab... ORPHA:125
Pearson Marrow-Pancreas Syndrome
Anemia, Vomiting, Hepatic failure, Reticulocytopenia, Villous atrophy, Malabsorption, Refractory ... OMIM:557000
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:760
Systemic Mastocytosis With Associated Hematologic Neoplasm