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Gene: Il2rb MGI:96550

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Gene Summary

Name:
interleukin 2 receptor, beta chain
Synonyms:
IL15Rbeta,  IL-2/15Rbeta,  IL-15Rbeta,  Il-2Rbeta,  CD122,  IL-15 receptor beta chain

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IMPC Data Collections

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
abnormal coat appearance Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-07
abnormal coat/ hair morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-07
abnormal autopod morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 6.85×10-12
abnormal ear morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 2.29×10-11
female infertility Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
male infertility Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 0.00

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 Il2rb 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 Il2rb by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Failure to thrive, Lymphadeno... OMIM:618495
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Antinuclear antibody positivity ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Antinuclear antibody positivity, Kne... ORPHA:85410

The table below shows human diseases predicted to be associated to Il2rb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... ORPHA:444463
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 64 With Lymphoproliferation
Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Decreased lymphocyt... OMIM:618534
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Anti-thyroid peroxidase antibody p... ORPHA:277
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased... ORPHA:169154
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Hypoplasia of the thymus, Decreased proportion of CD4-positive help... OMIM:617241
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
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Increased circulating interleukin 6 concen... OMIM:301082
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphop... OMIM:602450
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:603909
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Antinuclear antibody positivity, S... OMIM:615559
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs... OMIM:618944
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... OMIM:619510
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Failure to thrive, Lymphadeno... OMIM:618495
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory... OMIM:615767
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Immunodeficiency 27A
Anemia, Weight loss, Enlarged mesenteric lymph node, Hepatosplenomegaly, Rheumatoid factor positi... OMIM:209950
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... ORPHA:482
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Au... OMIM:614470
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolyt... OMIM:606367
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Proteasome-Associated Autoinflammatory Syndrome 2
Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi... OMIM:618048
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Autoimmune antibody positivity, Mediastinal lymphadenopathy ORPHA:60026
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... OMIM:300635
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... OMIM:608184
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... ORPHA:100024
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... OMIM:300853
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Anemia, Hypothyroidism, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis... OMIM:304790
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep... OMIM:615285
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... OMIM:607271
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral ... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... OMIM:308230
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... ORPHA:3261
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
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
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Weight loss, Increased circulating antibody ... ORPHA:449400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... ORPHA:169079
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis ORPHA:488191
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,... OMIM:613011
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... OMIM:613501
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
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
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Impai... OMIM:600802
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... OMIM:607594
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... OMIM:243700
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Antine... OMIM:301078
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurr... OMIM:240500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... OMIM:308240
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... ORPHA:158061
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Perinuclear antineutrop... OMIM:618394
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Eosinophilia, Increased circulating IgE level, Nail dystrophy OMIM:270300
Immunodeficiency 104
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Lymphadenop... OMIM:608971
Netherton Syndrome
Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair, Failure t... OMIM:256500
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hemophagocytosi... OMIM:607624
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ... ORPHA:2137
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Pgm3-Cdg
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity, Eo... ORPHA:443811
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Periungual erythema, Antinuclear antibody positivity, Cytoplasmic antineutrop... OMIM:615934
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Weight loss, Autoimmunity, Leukocytosis, Increased circulating IgE level ORPHA:2902
Reticular Dysgenesis
Leukopenia, Anemia, Weight loss, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... ORPHA:33355
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency 7
Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Failure to thrive, Lymphadenopathy,... OMIM:615387
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency By Defective Expression Of Mhc Class Ii
Gait ataxia, Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased lymp... ORPHA:572
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Autoinflammation With Episodic Fever And Lymphadenopathy
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... OMIM:618852
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Omenn Syndrome
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Failure ... OMIM:603554
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Decreased circulating IgA level, Increased ... OMIM:242860
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Rheumatoid factor positive, Failu... OMIM:615816
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Th... OMIM:616050
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Inability to walk, Choreoathetosis, Acute lymphoblas... OMIM:208900
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Cutaneous abscess, Eosinophilia OMIM:147060
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
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
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Antinuclear antibody positivity, Thyroiditis, Autoimmune hemolytic anemia, Fai... OMIM:617388
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:100026
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia OMIM:234350
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Anti-liver cytosolic antigen type 1 antibody positivity, Cachexia, Splenomegaly, ... ORPHA:37042
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Autoimmunity... OMIM:243150
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Leishmaniasis
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Increased circulating antibody l... ORPHA:507
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Schnitzler Syndrome
Leukocytosis, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia, Sterile abscess, Cutaneous abscess, Decreased circulating IgA level, Eosinophilia, Incr... OMIM:618282
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Autoimmunity, Decreased circulating IgE, Failure to thri... OMIM:615758
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Failure to thr... OMIM:601457
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils... ORPHA:381
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... OMIM:619126
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Autoimmunity, Abnormality... ORPHA:47
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... ORPHA:2442
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphad... ORPHA:829
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Elevated hepatic... ORPHA:562639
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Subacute Inflammatory Demyelinating Polyneuropathy
Choreoathetosis, Gait disturbance, Steppage gait, Difficulty walking, Leukocytosis, Increased cir... ORPHA:206594
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophi... OMIM:226990
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Q Fever
Elevated hepatic transaminase, Lupus anticoagulant, Hepatosplenomegaly, Antimitochondrial antibod... ORPHA:781
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Retroperitoneal fibrosis, Prostatitis, Increased circulating an... ORPHA:449432
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... OMIM:242700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hypothyroidism, Decreased circulating antibody level, Neutropenia in presence of anti-neutropil a... OMIM:615952
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Lymphangiectasia, Intestinal
Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Whim Syndrome 1
Abnormality of female external genitalia, Decreased circulating IgG level, Decreased circulating ... OMIM:193670
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... ORPHA:848
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Splenomegaly, Hypothyroidism, Decreased circulating total IgM, B lymphocytop... OMIM:614700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Alpha-Heavy Chain Disease
Alopecia, Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly ORPHA:100025
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Thrombocy... ORPHA:83313
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Thymic Aplasia
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Chronic oral candid... ORPHA:83471
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Wilson Disease
Cirrhosis, Anemia, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatos... ORPHA:905
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Anti-thyroid peroxidase antibody positivity, Anti-glutamic acid decarboxylase antibody... ORPHA:228426
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Au... OMIM:616576
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... OMIM:603552
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... OMIM:613812
Trimethylaminuria
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Abnormality of the... ORPHA:90368
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly, Hepatomegaly OMIM:619175
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Large for gestational age, Lymphopenia, Hydrocele testis, P... OMIM:605309
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus e... ORPHA:90033
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Biliary cirrhosis, Tubulointerstitial nephritis, Non-caseating epithelioid c... ORPHA:227990
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level, Rheumatoid factor positive... ORPHA:90280
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen... OMIM:613494
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Trichorrhexis nodosa, Tiger tail banding, Brittle hair, Bilateral cryptorchi... OMIM:616395
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... OMIM:301000
Syndromic Diarrhea
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Panhypogammaglobulinemia, ... ORPHA:84064
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Alpha-Thalassemia
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Lead Poisoning
Abnormal T cell morphology, Anemia, Small for gestational age, Decreased circulating osteocalcin ... ORPHA:330015
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosi... ORPHA:3226
Ataxia-Telangiectasia
Premature graying of hair, Decreased circulating antibody level, Abnormal testis morphology, Apla... ORPHA:100
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Biliary cirrhosis, Tubulointerstitial nephritis, Non-caseating epithelioid c... ORPHA:227982
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... OMIM:614480
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Tularemia
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... ORPHA:3392
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Granuloma, Eczema, Lymphopeni... OMIM:618935
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Pili torti, Gait disturbance, Ataxia, Abnormality of hair text... ORPHA:2891
Insulin Autoimmune Syndrome
Weight loss, Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, ... ORPHA:411593
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Panniculitis, Splenomegaly OMIM:619183
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Failure to thrive, Neutropenia, Intermittent thromb... OMIM:616740
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Weight loss, ... ORPHA:54251
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Ataxia, Autoi... ORPHA:760
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Biliary cirrhosis, Decreased body weight... ORPHA:2298
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Myocarditis, Hepatitis, Lymphocytosis, Skin rash, Thyroiditis, Elev... ORPHA:139402
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Lymphocytosis, Autoimmunity, Hepatic steatosis... ORPHA:79087
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Paronychia, Eosinophilia, Abnormal hair morphology, Dystrophic f... ORPHA:2314
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, A... OMIM:224100
Hodgkin Lymphoma
Weight loss, Ataxia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Brittle hair, Sideroblastic anemia, Atax... OMIM:616084
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Weig... ORPHA:90362
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Sinu... ORPHA:33110
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased ... ORPHA:98850
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... OMIM:301081
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
Indolent Systemic Mastocytosis
Elevated total serum tryptase, Skin rash, Mastocytosis, Lymphadenopathy, Increased proportion of ... ORPHA:98848
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Long eyelashes, Increased circulating IgE level OMIM:616069
Aspergillosis
Hepatitis, Neutropenia, Increased circulating IgE level, Eosinophilia ORPHA:1163
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Myasthenia Gravis
Anti-muscle-specific tyrosine kinase antibody, Hemolytic anemia, Rheumatoid arthritis, Hepatitis,... ORPHA:589
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... ORPHA:549
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea OMIM:617442
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss, Hepatomegaly ORPHA:86893
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Juvenile rheumatoid arthritis, Autoimmunity, Failure to thrive, Hashimoto thyroiditis, Decreased ... ORPHA:275
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Decreased acid sphingomyelinase activity, Bone-marrow foam cells,... OMIM:607616
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase level, Jaundic... OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Biliary tract abnormality, Cholangitis, Viral hepatitis, Cutaneous aner... OMIM:209920
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Anemia, Weight loss, Lymphocytosis, Cervical lymphadenopathy, Acute monoc... ORPHA:514
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Felty Syndrome
Anemia, Weight loss, Autoimmunity, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Th... ORPHA:47612
Diffuse Alveolar Hemorrhage
Anemia, Decreased circulating complement C3 concentration, Weight loss, Autoimmunity, Rheumatoid ... ORPHA:90060
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Primary Myelofibrosis
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Autoimmune antibody positivit... ORPHA:824
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Generalized Eruptive Histiocytosis
Hypereosinophilia, Maculopapular exanthema, Elevated total serum tryptase, Lymphadenopathy, Histi... ORPHA:157991
Sézary Syndrome
Alopecia, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Nail dystro... ORPHA:3162
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... ORPHA:508533
Omenn Syndrome
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Thyroiditis, Autoimmunity, F... ORPHA:39041
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti... OMIM:301045
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Autoimmunity, Pancytopenia, Hashimoto thyroiditis, Decreased circulatin... OMIM:613385
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... ORPHA:183675
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Thymoma
Weight loss, Decreased circulating antibody level, Rheumatoid arthritis, Pure red cell aplasia, A... ORPHA:99867
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia OMIM:612783
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... OMIM:612310
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Jaundice, Inflammatory ... ORPHA:39812
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Chilblains, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615010
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Prolidase Deficiency
Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Failure to thrive, Sys... OMIM:170100
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Melioidosis
Septic arthritis, Brain abscess, Prostatitis, Hepatitis, Liver abscess, Osteoarthritis, Lung absc... ORPHA:31202
Folate Malabsorption, Hereditary
Leukopenia, Ataxia, Failure to thrive, Athetosis, Thrombocytopenia, Neutropenia, Folate-responsiv... OMIM:229050
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Immunodeficiency 31C
Hypothyroidism, Weight loss, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:614162
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Decreased ... ORPHA:543
Candidiasis, Familial, 1
Cutaneous anergy, Abnormality of the endocrine system, Alopecia OMIM:114580
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Abnormal... ORPHA:79124
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... OMIM:619868
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash, Lymphadenopathy, Leukocyto... OMIM:611762
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Lymphopenia, Pancytopen... OMIM:617780
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatic failure, Jaundice, Hepatomegaly ORPHA:60
Urban-Rogers-Meyer Syndrome
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Increased circulating IgE level ORPHA:3409
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Prominent eyelashes, Hepatospl... ORPHA:353298
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Galactosemia Iii
Decreased beta-galactosidase activity, Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Inability to walk, Synophrys, Enlarged kidney, Long eyelashes, Macrovesicular... OMIM:617303
Sandhoff Disease
Failure to thrive, Ataxia, Splenomegaly, Hepatomegaly ORPHA:796
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Eosinophilia, Sialadenitis... ORPHA:449395
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:613313
Classic Hodgkin Lymphoma
Weight loss, Ataxia, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:391
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Failure to thrive, Lymphadenopathy, He... OMIM:617591
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... OMIM:619767
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestatic liver diseas... OMIM:214900
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Ataxia, F... OMIM:275350
Primary Sclerosing Cholangitis
Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Hepatocellular carcinoma, El... ORPHA:171
Congenital Bile Acid Synthesis Defect Type 1