Gene: Rag1 MGI:97848

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Rag1 (6 diseases)
Human diseases predicted to be associated with Rag1 (1123 diseases)

The table below shows human diseases associated to Rag1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Omenn Syndrome	Pneumonia, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Er...	ORPHA:39041

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

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Disseminated m...	OMIM:617638
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Crust...	ORPHA:79147
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia, Recurrent bronchopulmonary infections	ORPHA:90023
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level, Parakeratosis, Scaling ski...	ORPHA:90368
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio...	OMIM:214450
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce...	OMIM:308240
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma, Scaling skin, Pruritus	OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:169154
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Palmoplan...	OMIM:620507
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:602723
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin	OMIM:113800
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Immunodeficiency 54	Chromosome breakage, Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adre...	OMIM:609981
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 7	Diarrhea, Recurrent otitis media, Vitiligo, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoim...	OMIM:615387
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Eosinophilia, In...	ORPHA:555905
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis	OMIM:617571
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ...	ORPHA:98813
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ...	ORPHA:277
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegal...	OMIM:617388
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced b...	OMIM:616435
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Autoimmune thrombocytopenia, Vasculitis, Gastrointestinal hemorr...	OMIM:603909
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ...	OMIM:607624
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia	ORPHA:100024
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent otitis media, Molluscum contagiosum, Increased circulating IgE level...	OMIM:243700
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Immunodeficiency 53	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent urinary tract infect...	OMIM:617585
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Immunodeficiency 104	T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Epidermal acanthosis, Erythroderma, Generalized hyperkeratosis	OMIM:133200
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated...	OMIM:601859
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino...	OMIM:618523
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Papular Xanthoma	Histiocytosis	ORPHA:158008
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ep...	OMIM:612281
Generalized Eruptive Histiocytosis	Hypereosinophilia, Maculopapular exanthema, Leukemia, Pruritus, Histiocytosis	ORPHA:157991
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Decreased circulating IgG level, Reduced natural killer c...	OMIM:619752
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt...	OMIM:604777
Acute Generalized Exanthematous Pustulosis	Pruritus, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic derma...	ORPHA:293173
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Dry skin, Chilblains, Scaling skin, Thrombo...	OMIM:612952
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Chromo...	OMIM:605724
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni...	OMIM:617243
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Chromosomal breakag...	OMIM:620133
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Chronic myelomonocytic leuk...	ORPHA:90280
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Pemphigus Foliaceus	Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth...	ORPHA:79481
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Decreased ...	ORPHA:436159
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Acral Peeling Skin Syndrome	Erythema, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Scaling skin	ORPHA:263534
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Peeling Skin Syndrome 3	Erythema, White scaling skin, Pruritus	OMIM:616265
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ...	OMIM:256500
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Angular cheilitis, Epidermal acanthosis, Follicular hyperkeratosis, Punctate palmoplant...	OMIM:616295
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Autoimmunity, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Idiopathic Localized Lipodystrophy	Pruritus, Scaling skin, Inflammatory abnormality of the skin, Erythema	ORPHA:90158
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Myeloproliferative disorder, Pruritus	OMIM:607685
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:615598
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Cryptorchidism	OMIM:616910
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Bronchiectasis, Decreased circulating total IgM	OMIM:615139
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Abnormality of skin pigmentation	OMIM:300719
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Felty Syndrome	Synovitis, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abnormal lymphocyte morpholo...	ORPHA:47612
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents	OMIM:609054
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Ataxia-Telangiectasia	Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabe...	ORPHA:100
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Pruritus, Scaling skin	OMIM:105250
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega...	OMIM:616050
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E...	OMIM:614700
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Whim Syndrome 2	Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp...	OMIM:620632
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
N Syndrome	Leukemia, Abnormality of chromosome stability, Cryptorchidism	OMIM:310465
Immunodeficiency 23	Allergic rhinitis, Erythema, Conductive hearing impairment, Chronic mucocutaneous candidiasis, Ec...	OMIM:615816
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor...	ORPHA:911
Immunodeficiency 32B	Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ...	OMIM:226990
X-Linked Agammaglobulinemia	Alopecia, Recurrent pneumonia, Sepsis, Hypopigmented skin patches, Hepatitis, Conjunctivitis, Ost...	ORPHA:47
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal a...	ORPHA:330064
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Diarrhea, Recurrent viral infections, Protracted diarrhea, Pancytopenia, ...	ORPHA:572
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Increased circulating IgE level, Lymphopenia, Decreased circulating I...	OMIM:102700
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus	OMIM:615696
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym...	ORPHA:397596
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia, Abnormality of chromosome stability	OMIM:600546
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri...	ORPHA:87503
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen...	OMIM:242700
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:100025
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus	OMIM:606952
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Acute Radiation Syndrome	Hypotension, Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Interstitial pneumoni...	ORPHA:454831
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Perioral erythema, Increased circulating IgE level, Pustule, Erythroderma, Perianal ...	OMIM:614328
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Wells Syndrome	Skin vesicle, Eosinophilia, Pruritus	ORPHA:901
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis, Prurit...	ORPHA:79100
Immunodeficiency 46	Sepsis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, C...	OMIM:616740
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o...	ORPHA:33445
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Pustule, Erythroderma,...	ORPHA:2897
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Arthritis	ORPHA:2582
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Erythema, Vasculitis in the ...	ORPHA:90159
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:607936
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D...	ORPHA:90362
Bathing Suit Ichthyosis	Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis	ORPHA:100976
Cutaneous Mastocytoma	Erythema, Hypotension, Telangiectasia macularis eruptiva perstans, Maculopapular exanthema, Telan...	ORPHA:79455
Bazex Syndrome	Palmoplantar keratoderma, Parakeratosis, Scaling skin, Anemia, Pruritus, Hyperkeratosis	ORPHA:166113
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Noncompac...	ORPHA:353298
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Antineutrophil antibody positivity, Diarrhea, Aplastic anemia, Periodontitis, Recurren...	ORPHA:486
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Increased circulating IgE level, Psoriasiform dermatiti...	OMIM:615508
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosin...	ORPHA:139402
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Epidermal acanthosis, Pruritus	OMIM:608649
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Recurrent viral infections, Recurrent upper respiratory tract infections, Ch...	OMIM:614868
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent otitis media, Abnormal delayed hypersensitivity sk...	OMIM:301000
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma	ORPHA:280785
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615024
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair	OMIM:606574
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin	OMIM:620148
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Sézary Syndrome	Palmoplantar keratoderma, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immuno...	ORPHA:3162
Icf Syndrome	Abnormality of chromosome stability, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased c...	ORPHA:2268
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf...	ORPHA:540
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Epidermal acanthosis	ORPHA:2269
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin	OMIM:609165
Bone Marrow Failure Syndrome 4	Low-set ears, Bone marrow hypocellularity, Eczematoid dermatitis, Dry skin, Leukopenia, Thrombocy...	OMIM:618116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi...	OMIM:607115
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer	ORPHA:312
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu...	ORPHA:33355
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Recurrent systemic pyogenic infections, Abnormal dense granules,...	OMIM:214500
Hereditary Folate Malabsorption	Pancytopenia, Decreased circulating antibody level, Pallor, Eosinophilia, Megaloblastic anemia, T...	ORPHA:90045
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Erythema Elevatum Diutinum	Skin vesicle, Increased circulating antibody level, Skin rash, Vasculitis in the skin	ORPHA:90000
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Eczematoid dermatitis	OMIM:146700
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp...	OMIM:300755
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level	ORPHA:37748
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:615577
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Skin ulcer, Increased circulating IgE level, Osteomyelitis, Skin rash, Ski...	ORPHA:2314
Immunodeficiency 88	Eosinophilia	OMIM:619630
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt...	OMIM:616576
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Neutropenia	OMIM:266130
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans...	OMIM:619165
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i...	ORPHA:2688
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Hepatosplenomegaly, Decreased circulating antibody level, Interstitial pne...	OMIM:615952
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia, Mono...	OMIM:300299
Omenn Syndrome	Pneumonia, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Er...	ORPHA:39041
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sensorineural hearing impairment, Punc...	OMIM:602540
Specific Granule Deficiency 2	Intractable diarrhea, Recurrent pneumonia, Sepsis, Recurrent otitis media, Hirsutism, Recurrent b...	OMIM:617475
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia...	OMIM:603552
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ...	ORPHA:3406
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Malar rash, Psoriasiform lesion, Vasculitis in the skin, Cheilitis, Hyperkera...	ORPHA:163525
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep...	OMIM:615122
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Centrifugal Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin	ORPHA:90156
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, P...	ORPHA:79395
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Fanconi Anemia, Complementation Group S	Anemia, Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma	OMIM:617883
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis	OMIM:615023
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Vitiligo, Autoimmunity, Alopecia of scalp,...	ORPHA:700
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo...	OMIM:203200
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Erythroderma,...	ORPHA:79456
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin	OMIM:607602
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Ecchym...	ORPHA:36234
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oligoarthri...	ORPHA:31205
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Increased circulating IgE level, Pustule, Epidermal acanthosis, Hypertension	OMIM:616069
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Au...	ORPHA:229717
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin...	OMIM:617237
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Recurrent aphthous stomatitis, Vi...	ORPHA:275
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
C1Q Deficiency 1	Recurrent infections, Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus eryt...	OMIM:613652
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Folate Malabsorption, Hereditary	Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recu...	OMIM:229050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Kid Syndrome	Prelingual sensorineural hearing impairment, Posterior blepharitis, Psoriasiform dermatitis, Foll...	ORPHA:477
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents	OMIM:617244
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin...	OMIM:608184
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis	OMIM:216950
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Erythroderma, Scaling skin	OMIM:609180
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal fingernail m...	ORPHA:75564
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Atopic dermatitis, Hypereosinophilia, Leukocytosis	ORPHA:2902
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Sepsis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutr...	ORPHA:2686
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Lamellar Ichthyosis	Abnormal helix morphology, Dry skin, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkerato...	ORPHA:313
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Bone marrow hypocellularity	OMIM:615272
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Netherton Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Dry skin, Skin rash, Erythroderma, Decrea...	ORPHA:634
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Leukocytosis, Pustule, Parakeratosis, Oligoarthritis, Neutroph...	OMIM:614204
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ski...	ORPHA:183
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythroderma	OMIM:242300
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Noncompaction c...	OMIM:616651
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy...	ORPHA:183675
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia	ORPHA:293978
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology	ORPHA:2786
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Hemochromatosis, Type 3	Lymphopenia, Hyperpigmentation of the skin, Arthritis, Neutropenia, Anemia	OMIM:604250
Hermansky-Pudlak Syndrome 2	Albinism, Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged pla...	OMIM:608233
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Erythema, Decreased circulating ...	ORPHA:420741
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:158061
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pall...	ORPHA:98849
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl...	OMIM:300918
Autosomal Agammaglobulinemia	Diarrhea, Bronchiectasis, Hepatitis, Sepsis, Recurrent respiratory infections, Osteomyelitis, Ski...	ORPHA:33110
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy	OMIM:618999
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level, Chromosomal breakage induced by ionizing radiation	OMIM:613078
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec...	OMIM:601495
Mirage Syndrome	Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Adrena...	OMIM:617053
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Chorioretinal coloboma, Numerous pigmented freckles, Patchy hypo- and hyperpigmen...	OMIM:601706
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Scaling skin, Hyperkeratosis, Dry skin	OMIM:614457
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Hypothyroidis...	OMIM:609053
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Facial e...	OMIM:603165
Hydroa Vacciniforme	Papulovesicular eruption, Erythema, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der...	ORPHA:330058
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Lymphocytosis, Hepatic steatosis	ORPHA:79087
Congenital Ichthyosiform Erythroderma	Palmoplantar keratoderma, Hearing impairment, Keratitis, Erythroderma, Pruritus	ORPHA:79394
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Hypermelanotic macule, Systemic lupus erythematosus, Recurrent o...	OMIM:607944
Bloom Syndrome	Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Decrea...	OMIM:210900
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Increased mean corpuscular vol...	OMIM:617052
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia, Recurrent bacterial infections	ORPHA:86788
Neonatal Alloimmune Neutropenia	Pneumonia, Antineutrophil antibody positivity, Sepsis, Neutropenia in presence of anti-neutropil ...	ORPHA:464370
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ...	OMIM:600901
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo...	ORPHA:897
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Congenital Lethal Erythroderma	Dry skin, Congenital exfoliative erythroderma	ORPHA:1954
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:620514
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, C...	OMIM:603467
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Sepsis, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ...	ORPHA:79433
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Fanconi Anemia, Complementation Group P	Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism	OMIM:613951
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia	OMIM:620005
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Cervical lymphadenopathy, Coombs-positive hemo...	OMIM:614034
Vulvovaginal Gingival Syndrome	Erythema, Abnormality of tumor necrosis factor secretion, Parakeratosis, Epidermal acanthosis, Pr...	ORPHA:83453
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Epiderma...	ORPHA:2199
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal...	ORPHA:64745
Lymphedema, Primary, With Myelodysplasia	Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio	OMIM:614038
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ...	OMIM:227650
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:147050
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation	OMIM:113750
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Facial erythema, Decreased ci...	OMIM:620321
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Papa Syndrome	Skin ulcer, Crohn's disease, Increased inflammatory response, Pustule, Myositis, Increased circul...	ORPHA:69126
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation, Fine hair, Melanocytic nevus, Pili tor...	ORPHA:1573
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
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