Gene Summary

Name:
interleukin 17 receptor A
Synonyms:
VDw217,  Il17r

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.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Il17ra mutations

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

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

The table below shows human diseases associated to Il17ra by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Chronic Mucocutaneous Candidiasis
Cheilitis, Pruritus, Hepatitis, Skin rash ORPHA:1334

The table below shows human diseases predicted to be associated to Il17ra by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... OMIM:613502
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... OMIM:619220
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... ORPHA:572
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Chronic bronchitis, Neutropenia, Severe varicella zoster infection, Hepatosplenomegaly, P... OMIM:618986
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutrop... OMIM:209920
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Thrombocytopenia OMIM:617443
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... OMIM:614470
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Decreased circulating IgA level... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Pulmonary edema, Abnormal s... ORPHA:70578
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia OMIM:614204
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Candidiasis, Familial, 2
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... OMIM:212050
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... OMIM:150550
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Pulmonary edema, Ly... OMIM:617300
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... ORPHA:33110
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... ORPHA:324964
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Immunodeficiency 55
Eczema, Recurrent skin infections, Neutropenia, Recurrent infections OMIM:617827
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent sinopulmonary infections, Re... OMIM:243700
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Recurrent herpes, Failure to thrive sec... ORPHA:169160
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... ORPHA:79147
Immunodeficiency 88
Eosinophilia, BCGosis OMIM:619630
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Recurrent infections OMIM:616271
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Edema, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunct... OMIM:603552
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... OMIM:615607
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Recurrent infections, Recurrent tonsillitis, Onychomycosis, Splen... OMIM:618935
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Pleuritis, Recurrent infections, Splenomega... ORPHA:47612
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... OMIM:615577
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema ORPHA:703
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Cyclic Neutropenia
Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Recurrent tonsillitis, Periodontitis, Pe... ORPHA:2686
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of interleu... ORPHA:542323
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Thrombocytopenia, Stomatitis, Decreased circ... OMIM:308230
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Thrombocytopenia OMIM:606593
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Neutropen... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233710
Eosinophilic Fasciitis
Myositis, Fasciitis, Edema, Arthritis, Abnormal eosinophil morphology, Eosinophilia, Muscular edema ORPHA:3165
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic ... OMIM:618282
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... ORPHA:183675
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... ORPHA:2643
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Pulmonary edema, Pedal edema, Pleural effu... ORPHA:188
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Oligoarthritis, Pruritus, Sacroiliac arthritis, Anterior uveitis, Iridoc... ORPHA:85436
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... ORPHA:75564
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... ORPHA:90280
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233690
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... OMIM:604173
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Chronic active Epstein-Barr virus infection, Neutropenia, Abnorma... ORPHA:158048
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Recurrent otitis media, Incre... ORPHA:277
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia OMIM:243150
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni... ORPHA:47
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Psoriasis 2
Psoriasiform dermatitis OMIM:602723
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis OMIM:616834
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... OMIM:614700
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Bronchiectasis, Recurrent otitis media, Decreased circulating antibody l... ORPHA:293978
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... OMIM:251190
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Arthritis, Splenomegaly, Uveitis, Skin rash ORPHA:92
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, B lymphocytopenia, Decreased specific antibody response to polysacc... ORPHA:70593
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Infant Acute Respiratory Distress Syndrome
Sepsis, Respiratory tract infection, Pulmonary edema, Pneumonia ORPHA:70587
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, B lymphocytopenia, Decreased circulating total IgA, Decreased specific a... ORPHA:221139
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... ORPHA:231154
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... ORPHA:158061
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... OMIM:617514
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Fetal ascites, Sepsis, Neutropenia, Infectious encephalitis, Leukopeni... ORPHA:292
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Erythroderma, Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Ane... OMIM:304790
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema OMIM:267450
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous dermatitis ORPHA:79481
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... OMIM:147060
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurre... OMIM:616576
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Immunodeficiency 7
Hypereosinophilia, Recurrent infections OMIM:615387
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Severe varicella zoster infection, Bronchiectasis, Absces... OMIM:615816
Aspergillosis
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Pleuritis,... ORPHA:1163
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Arthritis, Abnormal pleura morphology ORPHA:2582
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Anemia, Splenomegaly, Acute myel... ORPHA:158057
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia, Edema OMIM:600351
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Gout, Neutropenia, Recurrent infections OMIM:617056
Retinal Venous Beading
Edema, Nephritis, Neutropenia OMIM:180080
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Slc35A1-Cdg
Neutropenia, Pneumonia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thromb... ORPHA:238459
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Decreased circulating IgG level, Recurr... OMIM:608809
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma OMIM:615508
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... ORPHA:540
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
Whim Syndrome
Sinusitis, Sepsis, Recurrent bacterial infections, Neutropenia, Pneumonia, Bronchiectasis, Lympha... ORPHA:51636
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... OMIM:229050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Eczema, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic an... OMIM:617780
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia OMIM:618963
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:607271
Fusariosis
Sinusitis, Brain abscess, Neutropenia, Fasciitis, Maculopapular exanthema, Unusual CNS infection,... ORPHA:228119
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytopenia, Pancyt... ORPHA:88
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Emphysema, Bronchiectasis ORPHA:1164
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... OMIM:618523
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly OMIM:619175
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrops fetalis OMIM:616738
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Barth Syndrome
Granulocytopenia, Recurrent infections in infancy and early childhood, Neutropenia OMIM:302060
Neonatal Alloimmune Neutropenia
Sepsis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Severe infec... ORPHA:464370
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Neutrop... OMIM:613179
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia, Arthritis OMIM:604250
Kid Syndrome
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo... ORPHA:477
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Pelger-Huet Anomaly
Eczema, Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platele... OMIM:169400
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... ORPHA:276
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Erythroderma, Pneumonia, Recurrent fungal infe... OMIM:603554
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, Abnorm... ORPHA:199241
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorr... OMIM:603585
Schnitzler Syndrome
Leukocytosis, Pruritus, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash ORPHA:37748
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Dehydration ORPHA:79312
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Impaired p... ORPHA:2968
Lymphoproliferative Syndrome 2
Sepsis, Severe varicella zoster infection, Ascites, Decreased circulating antibody level, EBV enc... OMIM:615122
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Wild Type Attr Amyloidosis
Abnormal pulmonary interstitial morphology, Pulmonary edema, Pleural effusion, Pedal edema ORPHA:330001
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia OMIM:616871
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Generalized Eruptive Histiocytosis
Leukemia, Pruritus, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Anemia, Abnormal mast cell morpho... ORPHA:98850
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Thrombocytopenia OMIM:618116
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... ORPHA:98848
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Abnorm... ORPHA:33355
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Hepat... ORPHA:167
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Immunodeficiency 91 And Hyperinflammation
BCGosis, Monocytosis, Edema, Pulmonary hemorrhage, Recurrent lower respiratory tract infections, ... OMIM:619644
Dracunculiasis
Pruritus, Arthritis, Skin rash, Recurrent cutaneous abscess formation ORPHA:231
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum OMIM:611762
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Pleural effusion, Peripheral edema, Generalized edema ORPHA:64739
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Chronic oral candidiasis, Recurrent otitis media, Re... OMIM:608233
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Edema OMIM:154800
Japanese Encephalitis
Infectious encephalitis, Neutrophilia, Increased circulating antibody level, Cerebral edema, Incr... ORPHA:79139
H Syndrome
Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Hepatosplenomegaly, Microcytic anemia,... ORPHA:168569
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis OMIM:616744
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Pustule, Chapped lip, Recurrent bacterial skin infections, Blepharitis ORPHA:294023
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Inflammation of th... ORPHA:3243
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Meningitis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia... OMIM:607115
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Neutropenia, Recurrent infections, Chronic irritative conjunctivitis, Lympho... OMIM:258360
Immunodeficiency 31C
Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia OMIM:614162
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Recurrent respiratory infections, Peripheral edema ORPHA:75249
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Pericardial effusion, Ascites OMIM:115197
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis OMIM:234350
Hellp Syndrome
Microangiopathic hemolytic anemia, Pulmonary edema, Pleural effusion, Thrombocytopenia, Hemolytic... ORPHA:244242
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Pneumonia, Decreased circulating Ig... OMIM:102700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... OMIM:613470
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... OMIM:612541
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Ascites, Peritonitis, Edema, Neonatal sepsis, Thrombocytopenia ORPHA:391673
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis OMIM:603165
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Increased circulating antibody level, Otitis medi... ORPHA:3392
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... ORPHA:229717
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... ORPHA:83471
Majeed Syndrome
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... OMIM:609628
Pneumocystosis
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Multipl... ORPHA:723
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Normocytic anemia, Mem... ORPHA:49041
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Increased circulating interleukin 6, Tubulointerstitial nephritis, Pneumonia, Anemi... ORPHA:340
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Aicardi-Goutieres Syndrome 3
Chilblains, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Hereditary Folate Malabsorption
Cheilitis, Decreased circulating antibody level, Megaloblastic anemia, Recurrent urinary tract in... ORPHA:90045
Sepsis In Premature Infants
Leukocytosis, Increased circulating interleukin 6, Neutropenia, Edema, Anemia, Splenomegaly, Diss... ORPHA:90051
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Netherton Syndrome
Allergic rhinitis, Erythroderma, Angioedema, Decreased circulating IgG level, Hypernatremic dehyd... OMIM:256500
Neonatal Lupus Erythematosus
Neutropenia, Anemia, Splenomegaly, Malar rash, Aplastic anemia, Maculopapular exanthema, Skin ras... ORPHA:398124
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, T lymphoc... ORPHA:35078
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Neutropenia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Oste... ORPHA:811
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Esophagitis, Recurrent otitis ... OMIM:612562
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema OMIM:233810
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Conjunctivitis OMIM:120100
Wells Syndrome
Eosinophilia, Edema ORPHA:901
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Nephritis, Bone marrow hy... OMIM:617303
Iga Pemphigus
Pustule, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of the skin, Monocl... ORPHA:555905
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... OMIM:615207
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Rectal abscess,... ORPHA:436252
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... OMIM:242900
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Acute Promyelocytic Leukemia
Leukocytosis, Chronic infection, Neutropenia, Leukopenia, Stomatitis, Anemia, Pancytopenia, Throm... ORPHA:520
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Chronic otitis media, Bone marrow hypocellularity, Splenomegaly, My... ORPHA:3226
Letterer-Siwe Disease
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An... ORPHA:508542
Classic Mycosis Fungoides
Eczema, Pruritus, Abnormal lymphocyte morphology, Splenomegaly, Skin rash ORPHA:2584
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Increased circulating interleukin 6, Panniculitis, Anemia, Acne inversa OMIM:608068
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Hepatitis, Bone marrow hypocellularity, Arthritis, Pleur... ORPHA:829
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Propionic Acidemia
Eczema, Neutropenia, Anemia, Pancreatitis, Pancytopenia, Thrombocytopenia, Dehydration OMIM:606054
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... ORPHA:906
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Recurrent viral infections, Colonic eosinophilia, Hepa... OMIM:618999
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... OMIM:617099
Keratolytic Winter Erythema
Pustule ORPHA:50943
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Sepsis, Leukopenia, Pneumonia, Pneumothorax, Pleural empyema, Neutrophilia, Acute i... ORPHA:36238
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... OMIM:242700
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Stomatitis, Megaloblastic anemia, Recurrent infections, Skin rash ORPHA:79284
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Recurre... ORPHA:391487
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Recurrent aphth... ORPHA:3261
Elastoderma
Eczema, Erysipelas ORPHA:228240
Wiskott-Aldrich Syndrome
Sepsis, Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phyt... OMIM:301000
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Pneumonia, Recurrent otitis media, Joint swelling, Autoimmune thrombocytopenia, Rheu... OMIM:607944
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections ORPHA:79503
Omenn Syndrome
Leukocytosis, Sepsis, Erythroderma, Pneumonia, Edema, Abnormal lymphocyte morphology, Anemia, Spl... ORPHA:39041
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Ascites OMIM:261740
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Neutropenia, Spleno... OMIM:617050
Cirrhotic Cardiomyopathy
Peripheral edema, Pulmonary edema, Ascites ORPHA:57777
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Impair... ORPHA:1830
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Methylmalonic Aciduria, Cblb Type
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Dehydration OMIM:251110
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema, Hemolytic anemia OMIM:177000
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno... ORPHA:77297
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash, Thin skin ORPHA:1658
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Stomatitis, Megaloblastic anemia, Skin rash, Pancytopenia, Thrombocytopenia OMIM:277380
Wolcott-Rallison Syndrome
Neutropenia, Ascites, Iron deficiency anemia, Recurrent infections, Lymphocytosis, Dehydration ORPHA:1667
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Anemia, Increased... OMIM:615934
Pityriasis Rubra Pilaris
Pruritus, Eczema, Erythroderma, Pustule ORPHA:2897
Roifman Syndrome
Eczema, Decreased circulating antibody level, Recurrent otitis media, Hepatosplenomegaly, Recurre... ORPHA:353298
Ethylene Glycol Poisoning
Gastritis, Cerebral edema, Pulmonary edema ORPHA:31826
Absence Of The Pulmonary Artery
Bronchiectasis, Pulmonary edema, Recurrent pneumonia, Recurrent respiratory infections, Pulmonary... ORPHA:980
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent skin infections, Extramedullary... OMIM:612840
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Methylmalonic Acidemia With Homocystinuria
Skin rash ORPHA:26
Methylmalonic Aciduria, Cbla Type
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Dehydration OMIM:251100
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Increased circulating antibod... OMIM:617591
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Immunodeficiency 49
Inflammatory abnormality of the skin, Eosinophilia, Lymphopenia OMIM:617237
Cocaine Intoxication
Tubulointerstitial nephritis, Pneumothorax, Pulmonary edema, Diffuse alveolar hemorrhage, Glomeru... ORPHA:90068
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczema, Microcytic anemia ORPHA:79278
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Allergic rhinitis, Ascites, Edema, Anemia, Eosinophilia ORPHA:2070
Zygomycosis
Sinusitis, Myocarditis, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Gastritis, Pericarditis... ORPHA:73263
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:614520
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Myositis OMIM:253600
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Leukocytosis, Hypersensitivity pneumonitis, Increased circulating IgE level, H... ORPHA:2902
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity ORPHA:445038
Amyloidosis, Familial Visceral
Skin rash, Splenomegaly OMIM:105200
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Pellagra-Like Syndrome
Skin rash OMIM:260650
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Psoriasiform dermatitis, Blepharitis ORPHA:69085
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, P... OMIM:260400
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... OMIM:618131
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent... OMIM:260920
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Recurrent infections OMIM:618092
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Skin rash, Enterocolitis, Pancytopenia, ... OMIM:616050
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis ORPHA:567544
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Subcorneal Pustular Dermatosis
Pruritus, Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Abnormality of serum cytokine level, Recurrent sk... ORPHA:94059
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Recurrent infections, Osteomyelitis, Increased circulating IgE leve... ORPHA:2314
Acquired Ichthyosis
Pruritus, Recurrent skin infections ORPHA:454
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema OMIM:615895
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis ORPHA:79148
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Holoprosencephaly, Recurrent Infections, And Monocytosis
Recurrent skin infections, Monocytosis OMIM:610680
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Pustule OMIM:616069
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia OMIM:612952
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Abnormal lung morphology, Liver abscess ORPHA:54251
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... OMIM:600903
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia, Recurrent infections OMIM:617941
Toxic Epidermal Necrolysis
Sepsis, Neutropenia, Anemia, Pancreatitis, Abnormal pleura morphology, Thrombocytopenia, Recurren... ORPHA:537
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash ORPHA:889
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis ORPHA:2237
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Roifman Syndrome
Eczema, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Eosinophilia OMIM:616651
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Decreased proportion of class-switched memory B cells, Decreased cir... OMIM:233600
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, Arthriti... ORPHA:31205
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Recurrent infections OMIM:615471
Scorpion Envenomation
Myocarditis, Edema, Pulmonary edema, Acute pancreatitis ORPHA:466677
Good Syndrome
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Recurrent skin infection... ORPHA:169105
Kikuchi-Fujimoto Disease
Myocarditis, Neutropenia, Pustule, Leukopenia, Anemia, Splenomegaly, Meningitis, Malar rash, Lymp... ORPHA:50918
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Bronchiectasis, Anemia, Recurrent infections, Acute myeloid leukemia OMIM:601347
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Unusual infection, Increased c... ORPHA:400
Glycogen Storage Disease Ib
Neutropenia, Recurrent bacterial infections, Gout, Pancreatitis OMIM:232220
Cholestasis-Lymphedema Syndrome
Erysipelas, Splenomegaly OMIM:214900
Trichothiodystrophy
Keratoconjunctivitis sicca, Eczema, Neutropenia, Recurrent bronchopulmonary infections, Anemia, R... ORPHA:33364
Zika Virus Disease
Infectious encephalitis, Pruritus, Arthritis, Increased circulating IgM level, Maculopapular exan... ORPHA:448237
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Truncus Arteriosus
Abnormal lung lobation, Hypoplasia of the thymus, Pulmonary artery hypoplasia, Pulmonary edema, P... ORPHA:3384
Fanconi Anemia, Complementation Group I
Neutropenia, Bone marrow hypocellularity OMIM:609053
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocyto... OMIM:313900
Blue Rubber Bleb Nevus
Microcytic anemia, Skin rash ORPHA:1059
Prolidase Deficiency
Eczema, Thrombocytopenia, Anemia, Splenomegaly, Increased circulating antibody level, Recurrent p... OMIM:170100
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Anterior uveitis, Juvenile rheumatoid arthritis, Skin rash ORPHA:85414
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Neutrophilia, Skin rash, Pulmonary fib... OMIM:612852
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Peritonitis, Pleuritis, Arthritis, Splenomegaly, Crohn's disease, Neu... OMIM:249100
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Dermatitis Herpetiformis
Pruritus, Eczema, Microcytic anemia ORPHA:1656
Refractory Celiac Disease
Inflammatory abnormality of the skin, Macrocytic anemia, Normocytic anemia, Iron deficiency anemi... ORPHA:398063
Tubular Renal Disease-Cardiomyopathy Syndrome
Pulmonary edema, Pericardial effusion ORPHA:73224
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne OMIM:612847
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Familial Benign Copper Deficiency
Anemia, Acne ORPHA:1551
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema, Thin skin ORPHA:1810
Grubben-De Cock-Borghgraef Syndrome
Eczema ORPHA:2101
Histiocytoid Cardiomyopathy
Pulmonary edema ORPHA:137675
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Bazex Syndrome
Atopic dermatitis, Eczema, Acne inversa OMIM:301845
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating IgE leve... ORPHA:449400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Decreased circulating antibody level, Recurrent infections, Lymphopenia, Eosinophilia OMIM:617425
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Dermatomyositis
Myocarditis, Pericarditis, Lung adenocarcinoma, Edema, Arthritis, Abnormal eosinophil morphology,... ORPHA:221
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Polyhydramnios OMIM:618005
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Peripheral pulmonary artery stenosis, Recurrent cutaneous abscess formation, Recurre... ORPHA:163956
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Eczema, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Tako-Tsubo Cardiomyopathy
Pulmonary edema ORPHA:66529
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Anemia, Splenomegaly, Skin rash, Anemia of inadequate production OMIM:612714
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocytopenia, Pancytopenia, Thro... OMIM:227645
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Recurrent infection... ORPHA:228426
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Dengue Fever
Pruritus, Skin rash, Leukopenia, Thrombocytopenia ORPHA:99828
Familial Male-Limited Precocious Puberty
Acne ORPHA:3000
Cutaneous Collagenous Vasculopathy
Pruritus, Skin rash ORPHA:280779
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Myositis, Leukopenia, Discoid lupus rash, Nephritis, Arthritis... ORPHA:93552
Acral Peeling Skin Syndrome
Eczema ORPHA:263534
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Eczema, Thrombocytosis, Leukopenia, Decreased circulating antibody level, Panniculi... OMIM:615688
Periodic Fever, Familial, Autosomal Dominant
Myositis, Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas, Conjunctivitis OMIM:142680
Classic Hodgkin Lymphoma
Pruritus, Skin rash, Splenomegaly ORPHA:391
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Muckle-Wells Syndrome
Episcleritis, Anemia, Arthritis, Splenomegaly, Uveitis, Skin rash, Recurrent aphthous stomatitis,... ORPHA:575
Rothmund-Thomson Syndrome
Neutropenia, Leukemia, Anemia, Facial edema, Malar rash, Skin rash, Aplastic anemia ORPHA:2909
Cranio-Osteoarthropathy
Eczema, Osteoarthritis, Arthritis ORPHA:1525
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Skin rash, Splenomegaly ORPHA:290
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular ... ORPHA:284426
Leigh Syndrome
Anemia, Eczema, Severe viral infection, Neutropenia ORPHA:506
Pediatric-Onset Graves Disease
Episcleritis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Keratitis, Olig... ORPHA:525731
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... ORPHA:634
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Leukocytosis, Chronic lymphocytic meningitis, Recurrent otitis m... ORPHA:99843
Ulerythema Ophryogenesis
Contact dermatitis, Acne ORPHA:3406
Chronic Granulomatous Disease
Sinusitis, Eczema, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Abnormality o... ORPHA:379
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Fibrocystic lung disease, Eosi... OMIM:158310
Coccidioidomycosis
Pleural empyema, Unusual CNS infection, Eosinophilia, Morbilliform rash, Pericarditis, Folliculit... ORPHA:228123
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas OMIM:615704
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Microcytic anemia OMIM:612379
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Methylmalonic Acidemia With Homocystinuria, Type Cblc