Gene Summary

Name:
chemokine (C-X-C motif) receptor 2
Synonyms:
CD128,  IL-8Rh,  IL-8rb,  Gpcr16,  IL8RA,  Cmkar2,  Il8rb

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
increased KLRG1+ CD4 alpha beta T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased granulocyte number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
thrombocytosis Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 4.20×10-06
increased circulating magnesium level Cxcr2tm1a(EUCOMM)Wtsi HET   Early adult 1.56×10-05
increased circulating calcium level Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 1.49×10-07
increased neutrophil cell number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating serum albumin level Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 1.40×10-05
decreased immature B cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD103-positive CD11b-low dendritic cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
improved glucose tolerance Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 6.97×10-06
increased circulating creatinine level Cxcr2tm1a(EUCOMM)Wtsi HET Early adult 4.25×10-08
increased memory-marker gamma-delta T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased monocyte cell number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased leukocyte cell number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 1.52×10-13
increased effector memory T-helper cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD8-positive, alpha-beta memory T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 1.46×10-08
increased KLRG1+ CD8 alpha beta T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased Ly6C low monocyte number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased pre-B cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased red blood cell distribution width Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 2.07×10-05
increased memory-marker NK cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased memory-marker CD4-positive NK T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased eosinophil cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased anti-nuclear antigen antibody level Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating fructosamine level Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 2.08×10-12
decreased B cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating total protein level Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 6.92×10-13
increased gamma-delta T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased mature B cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased CD4-positive, alpha-beta memory T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased pre-pro B cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased Ly6C high monocyte number Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating thyroxine level Cxcr2tm1a(EUCOMM)Wtsi HOM Early adult 1.58×10-05
increased effector memory CD8-positive, alpha-beta T cell number Cxcr2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased CD8-positive, alpha-beta T cell number Cxcr2tm1a(EUCOMM)Wtsi 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.

X-ray

XRay Images Whole Body Dorso Ventral

25 Images

X-ray

XRay Images Forepaw

26 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

X-ray

XRay Images Skull Lateral Orientation

25 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Eye Morphology

Images Slit Lamp

2 Images

Legacy Phenotype Associated Images

View all 126 images

View all 6 images

Human diseases caused by Cxcr2 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 Cxcr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Neutrope... OMIM:614470
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Azotemia, Familial
Azotemia OMIM:109160
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Juvenile Arthritis
Leukocytosis, Thrombocytosis, Antinuclear antibody positivity OMIM:618795
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Anti-thyroid peroxidase antibody positivit... ORPHA:277
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Recurrent infections, Polyarticular arthriti... OMIM:235900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ... OMIM:618986
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Recurrent respiratory i... OMIM:613495
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Rheumatoid factor positive, Hypoalbuminemia, Anemia,... OMIM:209950
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, De... OMIM:615897
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Ab... OMIM:619374
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Autoimmunity, Lymphopenia, Pancytopenia, Anemia of inadequa... OMIM:617780
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia OMIM:615387
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Joint hypermobility, Craniosynostosis, Increased circulating IgE level, Recurrent fung... OMIM:147060
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, T lymphocytopenia, Increased circulating IgM level, Increa... OMIM:610163
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, ... OMIM:613502
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Cinca Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hepatosplenomegaly, ... OMIM:607115
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Arthropathy, Craniosynostosis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis ... OMIM:618523
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Thrombocythemia 2
Thrombocytosis OMIM:601977
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Eosinophilia OMIM:248100
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, An... ORPHA:507
Immunodeficiency 19
Lymphopenia OMIM:615617
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Neutropenia, Acute myeloi... ORPHA:486
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Neutropenia, Pneumonia, Abnormal trach... ORPHA:1163
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased ci... OMIM:300400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Decreased proportion of CD3-positive T cells, Lymphope... ORPHA:331206
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Eosinophilic Gastroenteritis
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Eos... ORPHA:2070
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Rheumatoid factor positive, Elevated circulating C-reactive protein ... OMIM:615934
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level, Asthma OMIM:147050
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Nephrotic Syndrome, Type 14
Hypothyroidism, Lymphopenia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Hypoalbum... OMIM:617575
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Uveitis, Punctate kera... OMIM:617388
Immunodeficiency 23
Joint hypermobility, Bronchiectasis, Recurrent Staphylococcus aureus infections, Vasculitis in th... OMIM:615816
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Autoim... OMIM:618495
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Halothane Hepatitis
Eosinophilia OMIM:234350
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Chronic active Epstein-Barr virus infection, Decreased spec... OMIM:300853
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Thyroiditis, Increased circulating IgE level, Eczema OMIM:618985
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Secondary Intestinal Lymphangiectasia
Autoimmunity, Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Retinal Telangiectasia And Hypogammaglobulinemia
Retinal telangiectasia, Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections, Recurrent infections, Recurrent ... OMIM:617744
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hypothyroidism, Central hypothyroidism, Hyperbilirubinemia... ORPHA:1667
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Reduced delayed hypersensit... OMIM:607624
Omenn Syndrome
Leukocytosis, Autoimmunity, Abnormal lymphocyte morphology, Thyroiditis, Hypothyroidism, Anemia, ... ORPHA:39041
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia, Depressed nasal b... OMIM:616911
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Ane... ORPHA:292
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Throm... OMIM:304790
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Thrombocythemia 3
Thrombocytosis OMIM:614521
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Leukope... ORPHA:2298
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Pulmonary infi... OMIM:618394
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga... OMIM:102700
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent gastroenteritis, Chronic oral candidiasi... ORPHA:275
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Hyperparathyroidism, Anemia ORPHA:2668
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Increased circulating IgM le... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neu... ORPHA:231154
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Anti-liver cytosolic antigen type 1 antibody positivity... ORPHA:37042
Acquired Partial Lipodystrophy
Autoimmunity, Lymphocytosis, Insulin resistance ORPHA:79087
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia ORPHA:90362
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Osteomyelitis, Craniosynostosis, Increased circulating IgE level, Joint hyperflexibili... ORPHA:2314
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Cytoplasm... ORPHA:449400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Hypothyroidism, Hypoalbuminemia, Anemia OMIM:608104
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Recurrent in... OMIM:256500
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Hashimoto thyroiditis, Pancytopenia, Lupus anticoagula... OMIM:615688
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Beta-Ketothiolase Deficiency
Hyperammonemia, Thrombocytosis, Leukocytosis, Hyperuricemia, Hypoglycemia, Hyperglycemia ORPHA:134
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Hepatomegaly, Splenomegaly, Abnormal mast... ORPHA:98848
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist ORPHA:89843
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Hepato... OMIM:619013
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly,... OMIM:607616
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia, Liver abscess ORPHA:67
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Agammaglobulinemia, Recurrent respiratory infections, Neutropenia OMIM:615214
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Emphysema, Eryt... ORPHA:634
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Disseminated nontuberculous myco... OMIM:300636
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Complement Component 7 Deficiency
Complement deficiency, Recurrent meningococcal disease, Recurrent Neisserial infections, Decrease... OMIM:610102
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Recurrent infections, Anteverted nar... OMIM:614069
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Avian Influenza
Lymphopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hypoalbumin... ORPHA:454836
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Hypogonadotropic ... OMIM:604250
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Hepatosplenomegaly, Eosinophilia OMIM:618999
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Leukopenia, Sinusitis, Anemia, Eczema, Osteomyel... ORPHA:811
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, Pleural effusion, Imp... OMIM:618935
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Autoimmunity, Delayed puberty, Diabetes... OMIM:614162
Complement Component 6 Deficiency
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... OMIM:612446
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... OMIM:617475
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Increased bone mineral density, Hepatomegaly, Anem... ORPHA:37748
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... OMIM:616005
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity ORPHA:98827
Peeling Skin Syndrome 1
Increased circulating IgE level, Asthma OMIM:270300
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Thrombocytosis, Leukocytosis, Nonketotic hypoglycemia, Hyperuricemia, Anemia, Leu... ORPHA:20
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Increased circulating antibody level, Cough, Alv... OMIM:178500
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Exertional dyspnea, Interstitial pneumonitis, Increased circul... ORPHA:723
Immunodeficiency 47
Decreased circulating antibody level, Splenomegaly, Leukopenia, Recurrent bacterial infections OMIM:300972
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular volume, Leukocytosis, Extramed... ORPHA:231222
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Anemia, Leukopenia, Bone marrow hyp... OMIM:617303
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Thyroiditis, Eosinophilia ORPHA:139402
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Hypoproteinemia, Leukocytosis ORPHA:340
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... ORPHA:90280
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:233710
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Panhypogam... OMIM:307200
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:233690
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Complement Factor D Deficiency
Complement deficiency, Recurrent bacterial infections OMIM:613912
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated ... ORPHA:94093
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Say-Barber-Miller Syndrome
Prominent nasal bridge, Craniosynostosis, Decreased circulating antibody level, Panniculitis, Imp... ORPHA:3132
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Cough, Pneumonia, Anemi... ORPHA:3392
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Telangiectasia of the skin, Inflammatory abnorma... ORPHA:542592
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Thyroiditis, Delayed puberty, Type I diabet... OMIM:212750
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Essential Thrombocythemia
Abnormal platelet morphology, Myelofibrosis, Acute leukemia, Splenomegaly ORPHA:3318
X-Linked Agammaglobulinemia
Hypocalcemia, Autoimmunity, Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation,... ORPHA:47
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Lupus anticoagulant, Antinuclear antibody positi... OMIM:616744
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Rhinorrhea, Melena, Cataract, Opacification of the corneal s... OMIM:158310
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Iga Pemphigus
Cutaneous abscess, Autoimmune antibody positivity, Eosinophilia ORPHA:555905
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoglycemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly OMIM:251880
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Histoplasmos... ORPHA:319552
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Increased circulating IgE level, Flexion contracture of to... ORPHA:3409
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Increased circulating ferritin concen... ORPHA:167
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Abnormality of neuronal migration, Hepatomegaly, Increased bon... ORPHA:2204
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmun... ORPHA:760
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation,... OMIM:139090
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Splenomegaly ORPHA:172
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Splenomegaly, Hypercalcemia, Primary hyperparathyroidism, Elevated ... OMIM:239200
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79303
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Addison Disease