Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
recombination activating 1
Synonyms:
Rag-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Rag1 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 Rag1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Rag1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 8
Lymphopenia OMIM:615401
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immuni... ORPHA:277
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism, Recurrent bronchopulmonary infections ORPHA:90023
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
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
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Familial Reactive Perforating Collagenosis
Pruritus, Hyperkeratotic papule, Perifolliculitis, Abnormality of the pinna, Maculopapular exanth... ORPHA:79147
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali... ORPHA:530838
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, Autoimmune thro... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Psoriasis 2
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema OMIM:617571
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Epidermolytic Hyperkeratosis
Erythroderma, Scaling skin, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:113800
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia OMIM:601495
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Hirsutism, Neutropenia, Thrombocytop... OMIM:617475
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Diarrhea, Recurrent bacterial infectio... OMIM:613501
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Candidiasis, Familial, 2
Deep dermatophytosis, Hypereosinophilia, Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Immunodeficiency 54
Chromosome breakage, Adrenocorticotropic hormone excess, Reduced natural killer cell count, Adren... OMIM:609981
Iga Pemphigus
Pustule, Pruritus, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera... ORPHA:555905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Immunodeficiency 19
Lymphopenia OMIM:615617
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia OMIM:617638
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Acne Inversa, Familial, 3
Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... OMIM:617388
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Erythema, Chronic mucocutaneou... OMIM:147060
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Neutropenia, ... ORPHA:70592
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candid... OMIM:618282
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Subarachnoid hemorrhage, Cerebral vasculitis, Eczema, Eosinophilia OMIM:243700
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Neutrope... OMIM:614470
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Felty Syndrome
Irregular hyperpigmentation, Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutrop... ORPHA:47612
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Diarrhea, Recurrent pneumonia, Recurrent ... OMIM:613502
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocy... ORPHA:444463
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Increased circulating IgE level, Erythema OMIM:270300
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:133200
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Papular Xanthoma
Histiocytosis ORPHA:158008
Generalized Eruptive Histiocytosis
Pruritus, Maculopapular exanthema, Histiocytosis, Hypereosinophilia, Leukemia ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Chilblain Lupus
Skin rash, Hyperkeratosis, Increased circulating antibody level, Pruritis on hand, Discoid lupus ... ORPHA:90280
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Immunodeficiency 58
Psoriasiform lesion, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Br... OMIM:618131
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking... OMIM:605724
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Alopecia Areata 1
Nail pits, Trachyonychia, Autoimmunity, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Acral Peeling Skin Syndrome
Eczema, Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
X-Linked Agammaglobulinemia
Skin rash, Sepsis, Abnormal lung morphology, Autoimmunity, Chronic diarrhea, Chronic otitis media... ORPHA:47
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Idiopathic Localized Lipodystrophy
Erythema, Pruritus, Scaling skin, Inflammatory abnormality of the skin ORPHA:90158
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Eosin... OMIM:618523
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Cervical lymphadenopathy, Lym... ORPHA:2442
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Recurrent otitis media, Recurrent urinary tract infect... OMIM:618495
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy OMIM:300719
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pustule, Pruritus, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:284426
Cole Disease
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Recurrent pneumonia OMIM:602079
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615022
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Scaling skin, Chilblains, Dry skin OMIM:612952
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity OMIM:609054
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Pneumonia, Panc... OMIM:614700
Immunodeficiency 55
Neutropenia, Diarrhea, Recurrent infections, Eczema, Recurrent skin infections, Lymphadenopathy OMIM:617827
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis, Angular cheilitis, Scaling skin, Epidermal acanthosis OMIM:616295
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology, Decreased circulating antibody l... ORPHA:100
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis OMIM:615598
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Chronic Actinic Dermatitis
Pruritus, Allergic rhinitis, Erythroderma, Epidermal acanthosis, Eczema, Late onset atopic dermat... ORPHA:330064
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability OMIM:310465
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Acrokeratosis Verruciformis
Hyperkeratosis, Epidermal acanthosis OMIM:101900
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Reduced ... OMIM:616050
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Epidermal acanthosis, Parakeratosis OMIM:612281
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Parakeratosi... OMIM:256500
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis, Acanthocytosis, Orth... OMIM:604777
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Increased circulating IgM level, Bronchiectasis, Increased c... OMIM:615816
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Abnormality of the optic nerve, Hypopigmenta... ORPHA:33445
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... OMIM:126070
Autosomal Dominant Severe Congenital Neutropenia
Neutropenia, Pneumonia, Diarrhea, Eosinophilia, Antineutrophil antibody positivity, Acute lymphob... ORPHA:486
Bazex Syndrome
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Anemia, Parakeratosis ORPHA:166113
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Thyroidit... ORPHA:99867
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Panniculitis-Induced Localized Lipodystrophy
Erythema, Vasculitis in the skin, Abnormal immunoglobulin level, Inflammatory abnormality of the ... ORPHA:90159
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the fundus, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Recurrent... OMIM:616740
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Premature ovarian insufficiency, Lympha... ORPHA:100025
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Dry skin OMIM:609180
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Cutis laxa, Scaling skin, Dry skin OMIM:105250
Bathing Suit Ichthyosis
Erythroderma, Scaling skin, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkeratosis ORPHA:100976
Wells Syndrome
Pruritus, Skin vesicle, Eosinophilia ORPHA:901
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse... OMIM:600802
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perioral erythema, Increased circulating IgE level, Erythroderma, Perianal erythema, Ble... OMIM:614328
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Halothane Hepatitis
Viral hepatitis, Hepatitis, Eosinophilia OMIM:234350
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Roifman Syndrome
Noncompaction cardiomyopathy, Decreased circulating antibody level, Recurrent otitis media, Recur... ORPHA:353298
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Pityriasis Rubra Pilaris
Pustule, Pruritus, Palmoplantar keratoderma, Erythroderma, Subungual hyperkeratosis, Eczema ORPHA:2897
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Giant melanosomes in melanocytes, Recurrent bacterial ski... OMIM:214500
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthokeratosis OMIM:607936
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Erythema, Decreased circulating IgA level, Decrease... OMIM:614878
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Cutis laxa, Scaling skin, Epidermal acanthosis, Dry skin ORPHA:2269
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Acantholysis, Palmoplantar keratoderma, Erythroderma, Pulmonic stenosis, Recurrent skin infection... OMIM:615508
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Cyclic Neutropenia
Peritonitis, Respiratory tract infection, Recurrent tonsillitis, Decreased eosinophil count, Toot... ORPHA:2686
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Cinca Syndrome
Progressive sensorineural hearing impairment, Skin rash, Leukocytosis, Uveitis, Hearing impairmen... OMIM:607115
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Decreased circulating IgA level, Leukemia, Abnormality of th... OMIM:208910
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Increased serum interferon-gamma level, Purpura, Erythroderma, Decre... ORPHA:540
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus, Cutaneous mastocytosis ORPHA:280785
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Erythema,... ORPHA:139402
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Sézary Syndrome
Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormal lymphocyte morphology, Splenomegaly, A... ORPHA:3162
Erythema Elevatum Diutinum
Skin rash, Vasculitis in the skin, Skin vesicle, Increased circulating antibody level ORPHA:90000
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Decreased circulating IgG level, Decreased circulati... OMIM:615577
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Pigmentary retinopathy OMIM:266130
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Erythroderma, Skin ulcer, Palmoplantar keratoderma ORPHA:312
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin OMIM:146700
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Bloom Syndrome
Cryptorchidism, Abnormality of chromosome stability, Decreased circulating IgA level, Type II dia... OMIM:210900
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Pruritus, Increased circulating IgE level, Chronic otitis media, Skin ulcer, Eczema, S... ORPHA:2314
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Recurrent fungal infections, Helicobacter pylori infection, Lymphopen... ORPHA:2688
Centrifugal Lipodystrophy
Lymphadenitis, Scaling skin, Erythema, Inflammatory abnormality of the skin ORPHA:90156
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Basan Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:129200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Splenomegaly,... OMIM:603552
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis OMIM:609165
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Cheilitis, Pancytopenia, Thrombocytop... ORPHA:90045
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Vitiligo, Recurrent upper and lower respiratory tr... ORPHA:275
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h... OMIM:618116
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... OMIM:619165
Masp2 Deficiency
Systemic lupus erythematosus, Ulcerative colitis, Recurrent pneumonia OMIM:613791
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Scaling skin, Pneumonia, Sinusitis, Myocarditis, Shock, Myositis, Osteomy... ORPHA:36234
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Hermansky-Pudlak Syndrome 2
Albinism, Neutropenia, Recurrent abscess formation, Generalized hypopigmentation, Chronic oral ca... OMIM:608233
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Morbilliform rash, Lymphadenitis, Scal... ORPHA:31205
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Fusariosis
Pulmonary opacity, Peritonitis, Bronchiectasis, Pneumonia, Neutropenia, Maculopapular exanthema, ... ORPHA:228119
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Diffuse Cutaneous Mastocytosis
Pruritus, Gastrointestinal hemorrhage, Hypotension, Erythroderma, Leukemia, Cutaneous mastocytosis ORPHA:79456
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczematoid der... ORPHA:37042
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Anemia OMIM:617883
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema OMIM:617525
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
Rare Cutaneous Lupus Erythematosus
Psoriasiform lesion, Pustule, Nail bed telangiectasia, Neutrophilic infiltration of the skin, Pan... ORPHA:535
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Ja... OMIM:301045
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Curly hair, Chronic irritative conjunctivitis, Chronic neutropeni... OMIM:258360
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Isolated Agammaglobulinemia
Skin rash, Sepsis, Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneu... ORPHA:229717
Omenn Syndrome
Pruritus, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Pneumonia, Ane... ORPHA:39041
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Arthritis OMIM:300310
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage, Bone marrow hypocellularity, Anemia OMIM:614083
Immunodeficiency 49
Cutis laxa, Lymphopenia, Posteriorly rotated ears, Eosinophilia, Inflammatory abnormality of the ... OMIM:617237
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Increased circulating antibody ... ORPHA:449400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis ORPHA:3165
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur... OMIM:209920
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair, Anteverted nares, Short nose ORPHA:1355
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i... OMIM:613652
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
3-Methylglutaconic Aciduria, Type Vii
Recurrent infections, Neutropenia OMIM:616271
Woolly Hair
Hypopigmentation of hair, Abnormal retinal morphology, Slow-growing hair, Sparse lateral eyebrow,... ORPHA:170
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Psoriasis 14, Pustular
Pustule, Leukocytosis, Erythema, Cholangitis, Oligoarthritis, Parakeratosis, Neutrophilia, Epider... OMIM:614204
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased p... ORPHA:221139
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the... ORPHA:39812
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Palmoplantar hyperkeratosis, Epidermal acanthosis, Parakeratosis OMIM:242300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Intraventricular hemorrhage, Recurrent sinusiti... ORPHA:420741
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma, Palmoplantar keratoderma OMIM:615024
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Punctate keratitis, Sensorineural hearing... OMIM:602540
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Albinism, Oculocutaneous, Type Ii
Freckles in sun-exposed areas, Albinism, Hypopigmentation of hair, Red hair, Hypopigmentation of ... OMIM:203200
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Hyperpigmentation of the skin, Anemia, Arthritis OMIM:604250
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepa... ORPHA:33110
Roifman Syndrome
Recurrent pneumonia, Noncompaction cardiomyopathy, Recurrent otitis media, Splenomegaly, Eczema, ... OMIM:616651
Olmsted Syndrome, X-Linked
Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Epider... OMIM:300918
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Purpura, Recurrent intrapulmonary hemor... ORPHA:183
Lamellar Ichthyosis
Pruritus, Hyperkeratosis, Erythroderma, Chronic otitis media, Abnormality of the helix, Lack of s... ORPHA:313
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Dry skin, Scaling skin, Erythema OMIM:614457
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Vitiligo, Systemic lupus erythematosus, Hypopigmented skin patches on arms, Au... OMIM:607944
Lichtenstein Syndrome
Hirsutism, Neutropenia, Synophrys, Recurrent infections, Anteverted nares, Recurrent respiratory ... OMIM:246550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Pruritus, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Normocytic ane... ORPHA:98849
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Abnormal retinal morphology, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Whim Syndrome
Respiratory tract infection, Severe periodontitis, Vitiligo, Recurrent bacterial infections, Bron... ORPHA:51636
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Sp... OMIM:604173
Netherton Syndrome
Skin rash, Increased circulating IgE level, Erythroderma, Decreased circulating antibody level, E... ORPHA:634
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Ulerythema Ophryogenesis
Erythema, Follicular hyperkeratosis, Inflammatory abnormality of the skin ORPHA:3406
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Recurrent pneumonia OMIM:612692
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Epidermal acanthosis, Hypertension, Recurrent pneumonia OMIM:616069
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Intracranial hemorrhage, Pneumonia, Neutropenia,... ORPHA:1163
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hyperpigmentation of the skin, Splenomegaly, Mediastina... ORPHA:158029
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Complement Component 5 Deficiency
Decreased serum complement C5, Generalized seborrheic dermatitis, Reduced hemolytic complement ac... OMIM:609536
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia OMIM:618999
Dermatitis, Atopic
Pruritus, Allergic rhinitis, Atopic dermatitis, Facial erythema, Conjunctivitis, Eczema, Recurren... OMIM:603165
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Hypothyroidism, Neutropenia, Bone marrow hyp... OMIM:609053
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased serum complement C3, Hepatic steatosis ORPHA:79087
White Forelock With Malformations
Bronchomalacia, White forelock, Poliosis OMIM:277740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis ORPHA:79455
Oculotrichodysplasia
Scaling skin, Dry skin OMIM:257960
Retinitis Pigmentosa 35
Cone/cone-rod dystrophy, Abnormality of skin pigmentation, Rod-cone dystrophy OMIM:610282
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Abnormality of tumor necrosis factor secretion, Epidermal acanthosis, Paraker... ORPHA:83453
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the thymus OMIM:243150
Good Syndrome
Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediast... ORPHA:169105
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Recurrent bacterial skin infections, Scaling skin, Erythema, Psoriasiform d... ORPHA:294023
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Palmoplantar keratoderma, Erythroderma, Hearing impairment, Keratitis ORPHA:79394
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections OMIM:610738
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White fo... OMIM:601706
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Pancreatitis, Anemia, Sepsis, Optic atrophy ORPHA:289916
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia OMIM:610247
Chédiak-Higashi Syndrome
Skin rash, Vacuolated lymphocytes, Recurrent bacterial skin infections, Large clumps of pigment i... ORPHA:167
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Anemia, Eosinophilia ORPHA:2070
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Nephritis, Low posterior hairline, Hirsutism, Chorioretinal hypopigmentati... OMIM:617303
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Anemia, Le... OMIM:603467
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Lymphadenopathy OMIM:618048
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Recurrent upper respiratory tract... OMIM:615952
Myeloma, Multiple
Paraproteinemia OMIM:254500
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Thrombocytopenia, Adrenal insufficie... OMIM:617053
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, Underdeveloped nasal alae, White eyebr... OMIM:193510
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infections, Dry skin ORPHA:454
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Boutonneuse Fever
Increased circulating IgM level, Lymphadenopathy, Thrombocytopenia, Increased circulating IgG lev... ORPHA:83313
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion, Skin rash, Pruritus, Iridocyclitis, Iritis, Uveitis, Abnormality of tumor ne... ORPHA:85436
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Skin ulcer, Myosi... ORPHA:69126
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Scaling skin, Follicular hyperkeratosis, Hearing impairment, Keratitis, Dry skin OMIM:308205
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Aplastic anemia OMIM:610832
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Hypotrichosis With Juvenile Macular Degeneration
Freckling, Melanocytic nevus, Sparse scalp hair, Abnormality of macular pigmentation, Brittle hai... ORPHA:1573
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin ORPHA:1954
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea... OMIM:608809
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Jaundice, Splenomegaly, Hepatomegaly, Anemia, L... OMIM:603553
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Fanconi Anemia, Complementation Group E
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:600901
Angiostrongyliasis
Pruritus, Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosi... ORPHA:74
Coccidioidomycosis
Peritonitis, Skin rash, Pruritus, Pericarditis, Pneumonia, Vasospasm, Increased circulating IgG l... ORPHA:228123
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Palmar pruritus, Facial erythema, Pruritus on foot, Eczematoid der... ORPHA:64745
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment, Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Cheilitis, Epidermal acanthosis, Parakeratosi... OMIM:619208
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Diarrhea, Recurrent infect... OMIM:229050
Immunodeficiency 66
Pustule, Recurrent skin infections, Defective T cell proliferation OMIM:618847
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thyroiditis, Lymphopenia, Neutropenia i... ORPHA:391487
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Eczema, Lymphadenopathy, Pulmonary fibrosis, Lymphadenitis, Acute pancreatitis, Re... OMIM:618935
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Cone dystrophy, Optic disc pallor OMIM:268040
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Fanconi Anemia, Complementation Group A
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Classic Mycosis Fungoides
Skin rash, Pruritus, Hyperkeratosis, Abnormal lymphocyte morphology, Erythema, Splenomegaly, Ecze... ORPHA:2584
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability, Leukocytosis, Hypothyroidism, Pancytopenia, ... ORPHA:99812
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Cholelithiasis, Biliary hyperplasia, Pancreatic hypopla... ORPHA:83617
Immunodeficiency 31C
Autoimmune hemolytic anemia, Autoimmunity, Lymphopenia, Diarrhea, Chronic mucocutaneous candidias... OMIM:614162
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Schimke Immunoosseous Dysplasia
Bulbous nose, Lymphopenia, Neutropenia, Coarse hair, Thrombocytopenia, Abnormal T cell morphology... OMIM:242900
Idiopathic Hypereosinophilic Syndrome
Pruritus, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism, Chronic hepatitis,... ORPHA:3260
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Fanconi Anemia, Complementation Group C
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi... OMIM:227645
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Scleroderma
Pruritus, Osteomyelitis, Intestinal bleeding, Pericarditis, Right ventricular failure, Myelitis, ... ORPHA:801
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyelashes, Sparse facial hair, Impaired lymphocyte transformation with phytoh... OMIM:250250
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Necrobiosis Lipoidica
Granuloma, Erythema, Telangiectasia of the skin, Abnormality of neutrophil physiology, Skin ulcer... ORPHA:542592
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections, Telangiectasia of the skin ORPHA:302
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Neutropenia, Hyposegmentation of neutrophil n... OMIM:169400
Diamond-Blackfan Anemia 8
Short nose, Neutropenia, Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Pancreatitis, Optic atrophy ORPHA:79312
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections, Erythema ORPHA:346
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Nodular Lymphocyte Predominant Hodgkin Lymphoma