Gene Summary

interleukin 1 receptor-like 2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased anxiety-related response Il1rl2em1(IMPC)Mbp HOM Early adult 8.85×10-05
decreased locomotor activity Il1rl2em1(IMPC)Mbp HOM Early adult 1.02×10-08
abnormal behavior Il1rl2em1(IMPC)Mbp HOM Early adult 4.56×10-05
hyperactivity Il1rl2em1(IMPC)Mbp HOM Early adult 1.84×10-05
decreased thigmotaxis Il1rl2em1(IMPC)Mbp HOM Early adult 3.45×10-05
abnormal eye morphology Il1rl2em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Whole Body Dorso Ventral

80 Images


XRay Images Whole Body Lateral Orientation

40 Images

Human diseases caused by Il1rl2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Il1rl2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia OMIM:300988
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Schizophrenia 15
Hyperactivity OMIM:613950
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymphadenopathy, T ... OMIM:608971
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Incre... OMIM:615285
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE... OMIM:606843
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... OMIM:618986
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, ... OMIM:603552
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Decreased circulating antibody leve... OMIM:616740
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched m... OMIM:619126
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia OMIM:193670
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomegaly, Fulminant hepatitis, Decreased... OMIM:308240
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Diarrhea,... ORPHA:277
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocyt... OMIM:301078
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of anti-neutropil... OMIM:607594
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... OMIM:618261
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... OMIM:301082
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnormality o... ORPHA:158061
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia, Lymphadenopa... OMIM:615387
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Diarrhea, Leukopenia, Neutropenia, Thrombocytopenia OMIM:229050
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomeg... OMIM:209950
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... ORPHA:2686
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... OMIM:619281
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Caspase 8 Deficiency
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:607271
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphad... OMIM:613101
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal... OMIM:615617
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Chronic diarrhea, Ileus, H... OMIM:304790
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Chronic diarrhe... OMIM:300400
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul... OMIM:619752
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Abnormalit... ORPHA:540
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de... OMIM:616100
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lym... OMIM:603909
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia OMIM:618752
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Diar... ORPHA:486
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Lymphade... OMIM:618495
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Hemochromatosis, Type 3
Arthritis, Lymphopenia, Anemia, Neutropenia OMIM:604250
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Gastroeso... ORPHA:443811
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia... OMIM:308230
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... OMIM:615559
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopen... ORPHA:98850
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... ORPHA:397596
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Lymphadenopa... ORPHA:47612
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Bronchiectasis, Hepatit... ORPHA:33110
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia ORPHA:100024
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... OMIM:300635
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczema, Chronic diarrhea, Oligoarthritis, T lymphocytopenia, Dec... OMIM:619510
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... OMIM:617827
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Schnitzler Syndrome
Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circulating IgM leve... ORPHA:37748
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior OMIM:620270
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Lymphadenopa... OMIM:240500
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Chroni... OMIM:602450
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... OMIM:614868
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Recurrent otitis media, Neutrop... OMIM:617475
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... ORPHA:507
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... OMIM:226990
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... ORPHA:98813
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa... OMIM:615122
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... OMIM:610163
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Diarrhea, Decreased circulating antibody level, Leukopenia... ORPHA:33355
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane... ORPHA:158048
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr... OMIM:608184
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... ORPHA:293173
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Chronic diarrhea, Diarrhe... OMIM:617099
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenopathy, Lymphadenopathy, Leukopen... ORPHA:83313
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Protracted diarrhea, Agammaglobu... OMIM:209920
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia ORPHA:289916
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno... OMIM:612840
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly,... OMIM:242700
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decreased cir... OMIM:275350
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Diarrhea, Abnormality of the lymphatic system, Abnorm... ORPHA:54251
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Anemia, Neutropenia OMIM:617056
Letterer-Siwe Disease
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, S... OMIM:619375
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ ... ORPHA:98848
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A... OMIM:607115
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Stomatitis, Thrombo... ORPHA:520
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash, Splenomegaly... ORPHA:398124
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Thrombocytopenia,... OMIM:214500
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Microcytic anemia OMIM:618852
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Chronic oral candidiasis, Decreased proportion of n... ORPHA:276
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Anemia, Leukopen... ORPHA:292
Developmental Delay, Hypotonia, And Impaired Language
Constipation, Recurrent pneumonia, Gastroesophageal reflux, Neutropenia OMIM:620012
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Myeloprol... ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, ... OMIM:608106
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... OMIM:618116
Classic Mycosis Fungoides
Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Eczema, Allerg... OMIM:615816
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... ORPHA:228119
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Tubulointerstitial nephritis, Vomiting, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:251000
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... ORPHA:51636
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... ORPHA:98818
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Propionic Acidemia
Pancytopenia, Eczema, Anemia, Vomiting, Constipation, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:606054
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... OMIM:615952
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Chronic diarrhea, Leukopenia, Bone marrow hypocellularity, Neutrop... OMIM:613989
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphaden... OMIM:614034
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Diarrhea, Lymp... OMIM:603554
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br... ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthritis, Panniculitis, C... OMIM:617591
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... OMIM:619644
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... ORPHA:100026
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... ORPHA:79124
Necrotizing Enterocolitis
Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Neutropenia, Thrombocytopenia ORPHA:391673
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Lympha... ORPHA:381
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Poikiloderma With Neutropenia
Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne... OMIM:604173
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Bronchiectasis, Aspiration pneumonia, Neutropenia OMIM:618253
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Lymphadenopat... ORPHA:39041
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... OMIM:608233
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, Complete or ne... OMIM:605258
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... ORPHA:508542
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Gastroesophageal reflux, Thrombocytopenia, Neutropenia OMIM:614857
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... OMIM:619313
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Splenomegaly, Leukocytosis, Diarrhea, Enteroco... ORPHA:90051
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Immunodeficiency 40
Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pn... OMIM:616433
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Sézary Syndrome
Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte m... ORPHA:3162
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis ORPHA:42642
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, An... ORPHA:811
Congenital Toxoplasmosis
Thrombocytopenia, Diarrhea, Anemia, Lymphadenopathy ORPHA:858
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent otitis medi... OMIM:607944
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Increased circulating IgM level, Bone marr... OMIM:617303
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, M... ORPHA:829
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody ... OMIM:617718
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233710
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubuloint... ORPHA:139402
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Increased circulating IgA level, Pustule, Follicular hyperplasia, Malar rash... OMIM:615934
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Vomiting, Neutropenia ORPHA:2169
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... ORPHA:353298
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... OMIM:242900
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Skin rash, Pustule, Splenomegaly, Myocarditis, Cervical lymphadenopa... ORPHA:50918
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Diarrhea, Lymphadenopathy, Vomiting, Myel... ORPHA:79456
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Thrombocytopenia, Decreased proportion of naive CD8 T cells, A... ORPHA:1830
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Vomiting, Constipation,... OMIM:257200
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233690
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Vomiting, Neutropenia, Thrombocytopenia OMIM:251110
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Di... ORPHA:39812
Cinca Syndrome
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis, Uveitis, Lymp... ORPHA:1451
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, T lymphocytopenia, Increased circulating IgM leve... OMIM:242860
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... ORPHA:169105
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Decreased... ORPHA:1572
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ... OMIM:612562
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Infectious ence... ORPHA:73263
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... ORPHA:167
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa... ORPHA:2330
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Sple... ORPHA:809
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:277380
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h... OMIM:617052
Roifman Syndrome
Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media OMIM:616651
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Intractable diarrhea... OMIM:619381
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Diarrhea, Lymphadenopathy ORPHA:56425
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or p... ORPHA:83471
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid art... ORPHA:85414
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Dysphagia, Chronic mucocutaneo... OMIM:242840
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen... OMIM:260400
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Neutropenia ORPHA:1667
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... OMIM:301074
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Discoid lupus rash, Diarrhea, Malar rash, Lymphadenopathy, Leukopenia, Arthr... ORPHA:93552
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Neutropenia, Stomatitis, Megaloblastic anemia ORPHA:79284
Legionnaires Disease
Pericarditis, Splenomegaly, Diarrhea, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Vomiting, Neutropenia, Thrombocytopenia OMIM:251100
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Recurrent pneumonia, Thrombocytopenia, Neutropenia OMIM:616271
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,... OMIM:619750
Castleman Disease
Intestinal obstruction, Increased circulating interleukin 6 concentration, Generalized lymphadeno... ORPHA:160
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Thrombocytopenia, Exocrine pancreatic insu... OMIM:617941
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Pseudomyxoma Peritonei
Intestinal obstruction, Constipation, Lymphadenopathy, Inflammation of the large intestine ORPHA:26790
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... OMIM:615966
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:610377
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Chronic diarrhea, Reticulocytopenia, Steato... OMIM:557000
Classic Hodgkin Lymphoma
Splenomegaly, Skin rash, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Hepatosplenomegaly... OMIM:615688
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Leu... ORPHA:32960
Rhabdoid Tumor
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Glycogen Storage Disease Ib
Splenomegaly, Gout, Inflammation of the large intestine, Neutropenia, Pancreatitis OMIM:232220
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:306400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Lymphadenopathy, H... OMIM:603553
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Relapsing Fever
Neutrophilia, Leukocytosis, Diarrhea, Anemia, Leukopenia, Vomiting, Thrombocytopenia ORPHA:91547
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Vomiting, Infect... ORPHA:1304
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... OMIM:620242
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227645
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infectious encephalitis, Thr... OMIM:267700
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Lymphadenopathy, Hematochezi... OMIM:615895
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Gastroesophageal reflux, Dysphagia, Neutropenia OMIM:615471
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis OMIM:615978
American Trypanosomiasis
Skin rash, Splenomegaly, Diarrhea, Myocarditis, Lymphadenopathy, Achalasia, Infectious encephalitis ORPHA:3386
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, Thrombocytopenia ORPHA:169090
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... ORPHA:449291
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Peritonitis, Chronic ... OMIM:249100
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Osteomye... OMIM:614162
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Ileus, Anemia, Lymphadenopathy ORPHA:83469
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis ORPHA:83317
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Hepatosplenomegaly, Lymphadenopath... ORPHA:85450
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis OMIM:612852
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... OMIM:610217
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Lig4 Syndrome
Leukocytosis, Lymphadenopathy, Pancytopenia, Acute leukemia ORPHA:99812
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Peritonitis... ORPHA:343
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Neutropenia, Anemia, Conjunctivitis, Dysphagia, Pancreatitis, Thromb... ORPHA:537
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat... ORPHA:781
Kaposi Sarcoma
Abnormality of the spleen, Diarrhea, Generalized lymphadenopathy, Skin rash ORPHA:33276
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopat... OMIM:142680
Pediatric-Onset Graves Disease
Episcleritis, Keratitis, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antibo... ORPHA:525731
Rothmund-Thomson Syndrome
Aplastic anemia, Skin rash, Diarrhea, Vomiting, Neutropenia, Leukemia, Malar rash, Anemia ORPHA:2909
Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... ORPHA:33364
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Splenomegaly, Diarrhea, Uveitis, Lymphadenopathy, Arthritis, Conjunctivi... ORPHA:36412
Decreased circulating IgG level, Sinusitis, Decreased circulating IgG2 level, Chronic diarrhea, B... OMIM:208900
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Cholangitis, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, H... ORPHA:228426
Khan-Khan-Katsanis Syndrome
Lymphopenia, Dysphagia, Anemia, Neutropenia OMIM:618460
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227646
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... ORPHA:36234
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Abnormality of neutrophils, Splenomegaly, Diarrhe... ORPHA:33226
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia ORPHA:36238
Leigh Syndrome
Dysphagia, Eczema, Anemia, Neutropenia ORPHA:506
Cutaneous Mastocytoma
Maculopapular exanthema, Diarrhea, Lymphadenopathy, Vomiting, Nausea ORPHA:79455
Intellectual Developmental Disorder, Autosomal Dominant 54
Chronic constipation, Gastroesophageal reflux, Eczema, Neutropenia OMIM:617799
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Di... ORPHA:542323
Pleural Mesothelioma
Lymphadenopathy, Dysphagia ORPHA:50251
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammation... ORPHA:79259
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Chronic diarrhea, Dysphagia, Steatorrhea, Anemia, Bo... ORPHA:699
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar... ORPHA:536
Glycogen Storage Disease Ic
Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis OMIM:232240
Cohen Syndrome
Neutropenia ORPHA:193
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Diarrhea, Vomiting, Neutropenia, Leukemia, Anemia ORPHA:221008
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Bronchiectasis, Gastroesophageal ref... OMIM:620233
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Hepatosplenomegaly, Syno... ORPHA:85408
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Constipation, Posterior uveitis, Anemia ORPHA:52417
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Leukocytosis, Chronic ... ORPHA:3260
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... ORPHA:228123
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Diarrhea, Vomiting, Neutropenia, Leukemia, Anemia ORPHA:221016
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Anemia, Neutropenia ORPHA:175
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Neutropenia ORPHA:79430
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Hypereosinophilia, Epididymitis... ORPHA:2035
Cutaneous Neuroendocrine Carcinoma