Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal ear morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 2.29×10-11
abnormal coat/ hair morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-07
female infertility Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal coat appearance Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-07
abnormal autopod morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 6.85×10-12

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
Failure to thrive, Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, Autoimmune hemolytic anem... OMIM:618495
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Antinuclear antibody positivity, Weight loss, Lymphadenopathy, Anemia ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Autoimmunity, Knee osteoarthritis, Antinuclear antibody positivity, Oligoar... 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
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o... ORPHA:277
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Alopecia, Failure to thrive, Increased... ORPHA:169154
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul... OMIM:300400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level,... ORPHA:98813
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thrive, Panhypog... OMIM:602450
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... OMIM:613495
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, Autoimmune hemolytic anem... OMIM:618495
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 27A
Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl... OMIM:209950
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ... OMIM:614470
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Type I diabetes melli... OMIM:606367
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Type I diabetes mellitus, Hepatitis, Failure to thrive, Increased circulating IgE level... OMIM:304790
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig cl... OMIM:608184
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... ORPHA:100024
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Autoimmune antibody positivity, Plasmacytosis ORPHA:60026
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Spermatogenic Failure 17
Male infertility OMIM:617214
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD... OMIM:607271
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... OMIM:308230
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Severe B lymphocytopenia, Failure to thrive, Increased circulating Ig... OMIM:102700
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjuncti... OMIM:607594
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... ORPHA:169079
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... OMIM:616100
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... OMIM:613501
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi... ORPHA:231154
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... OMIM:301078
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment OMIM:608653
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity, Weight loss ORPHA:2902
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Difficulty walking, Lymphopenia, Decreased ci... OMIM:612782
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Peeling Skin Syndrome 1
Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Brittle hair OMIM:270300
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Pa... OMIM:615387
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
Griscelli Syndrome, Type 2
Silver-gray hair, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin pigment aggregation... OMIM:607624
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Sting-Associated Vasculopathy, Infantile-Onset
Rheumatoid factor positive, Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, N... OMIM:615934
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Systemic ... ORPHA:158061
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
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
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:572
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Autoimmunity, Spl... ORPHA:397596
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Ataxia-Telangiectasia
Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor... OMIM:208900
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Omenn Syndrome
Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepato... OMIM:603554
Immunodeficiency 23
Ataxia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, N... OMIM:615816
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral senso... OMIM:611102
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology... ORPHA:2585
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Netherton Syndrome
Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Failure to thrive, Increased... OMIM:256500
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... OMIM:616050
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt... ORPHA:436159
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig... OMIM:243700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Cachexia, Neutropenia, Autoimmune thrombocytopenia, Alopecia, Fa... ORPHA:37042
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Deafness-Infertility Syndrome
Azoospermia, Male infertility, Sensorineural hearing impairment ORPHA:94064
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent otitis media, Microcephalic sperm head, Redu... OMIM:301101
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclear anti... OMIM:617388
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:100026
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired T cell fun... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Autoimmunity, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agamma... OMIM:243150
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eo... OMIM:618282
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomega... OMIM:620565
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu... OMIM:613101
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Immunodeficiency 22
Decreased circulating IgG level, Failure to thrive, Ascites, Decreased circulating IgA level, Aut... OMIM:615758
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, Skin rash, Abnormali... ORPHA:47
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circul... OMIM:615952
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Lymphangiectasia, Intestinal
Abnormal hair morphology, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Type I diabetes mellitus, Failure to thrive, Decreased circulati... OMIM:614700
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Immunodeficiency 32B
Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepato... OMIM:226990
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... ORPHA:781
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva... ORPHA:562639
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen... OMIM:242700
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Leukocytosis, Steppage gait, Gait disturbance, Increased circulating IgG leve... ORPHA:206594
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... ORPHA:848
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Whim Syndrome 1
Decreased circulating IgG level, Abnormal morphology of female internal genitalia, Abnormal femal... OMIM:193670
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ... ORPHA:449432
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto... ORPHA:228426
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Auto... ORPHA:83471
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Macrocephaly/Autism Syndrome
Coarse hair, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Splenomegaly, Hep... OMIM:605309
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Broad-based gait, Agammaglobulinemia, Absent circulating B cells... OMIM:619705
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Neutropenia, ... OMIM:603552
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Chilblain Lupus
Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Increased circulating antibody lev... ORPHA:90280
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Chronic ly... ORPHA:90033
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopenia, Tiger tail bandin... OMIM:616395
Syndromic Diarrhea
Hepatic fibrosis, Panhypogammaglobulinemia, Trichorrhexis nodosa, Lymphopenia, Abnormality of the... ORPHA:84064
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Ataxia-Telangiectasia
Ataxia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Lymphopen... ORPHA:100
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmunity, Increased circul... ORPHA:411593
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Eczemat... OMIM:618935
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Antiphospholipid antibody positiv... ORPHA:90060
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemolytic anemia, Abn... ORPHA:760
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Ataxia, Sparse or absent eyelashes, Gait disturbance, Pili torti, Aplasia/Hypoplasia of the eyebr... ORPHA:2891
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb... OMIM:616740
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperinsulinemia, Type II diab... ORPHA:2298
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... ORPHA:54251
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level, Abnormal hair morphology, Dystrophic fingernails, Eosinophilia, ... ORPHA:2314
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Aggressive Systemic Mastocytosis
Ascites, Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopeni... ORPHA:98850
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Generalized hirsutism, Lymphocytosis, Decreased circulating comp... ORPHA:79087
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ... ORPHA:33110
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph... ORPHA:90362
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic microcyt... OMIM:616084
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Pancr... ORPHA:549
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Biliary tract abno... OMIM:209920
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup... OMIM:620376
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Long eyelashes, Failure to thrive OMIM:616069
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy... OMIM:607616
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:86893
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Prolidase Deficiency
Failure to thrive, Systemic lupus erythematosus, Facial hirsutism, Splenomegaly, Increased circul... OMIM:170100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Primary Biliary Cholangitis
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Biliary cirrhosis, Hepatic failure, H... ORPHA:186
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Decreased circulating ... OMIM:613385
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Wolman Disease
Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly, Acute hepatic failure OMIM:620151
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgE level, Abnormal mesentery morphology, Prostatitis, Decre... ORPHA:449395
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Hepatome... ORPHA:47612
Schimke Immunoosseous Dysplasia
Coarse hair, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Bilateral... OMIM:242900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Autoimmunity... ORPHA:275
Aicardi-Goutieres Syndrome 6
Splenomegaly, Loss of ambulation, Increased circulating Interferon-alpha concentration, Thrombocy... OMIM:615010
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Omenn Syndrome
Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenome... ORPHA:39041
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
S├ęzary Syndrome
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy, Abnormal immunoglobulin l... ORPHA:3162
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery... OMIM:612541
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi... ORPHA:64743
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Panniculitis, Cirrhosis, Hepatomegaly, Jaundice, Perinuc... ORPHA:60
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Immunodeficiency 31C
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Hypotrichosis Simplex Of The Scalp
Fine hair, Increased circulating IgE level, Alopecia of scalp, Slow-growing scalp hair, Sparse sc... ORPHA:90368
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Ataxia, Hepatomegaly ORPHA:391
Melioidosis
Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Foot osteomyelitis, Parotitis, Abnormalit... ORPHA:31202
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr... OMIM:619868
Primary Myelofibrosi