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 (1115 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	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia	OMIM:601457
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Omenn Syndrome	Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal lymphocyte morphology, Pruritus, Pne...	ORPHA:39041

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

Disease	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
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l...	OMIM:618987
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia	OMIM:608898
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Immunodeficiency 8	Lymphopenia	OMIM:615401
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM...	OMIM:153600
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the...	OMIM:300400
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega...	OMIM:607594
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T...	ORPHA:277
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen...	OMIM:619846
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia	OMIM:601457
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Familial Reactive Perforating Collagenosis	Abnormal pinna morphology, Inflammatory abnormality of the skin, Abnormal epidermal morphology, P...	ORPHA:79147
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Hypotrichosis Simplex Of The Scalp	Epidermal acanthosis, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Scaling skin, Pruritu...	ORPHA:90368
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ...	OMIM:214450
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis	ORPHA:60026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe...	OMIM:618261
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Peeling Skin Syndrome 1	Eosinophilia, Scaling skin, Pruritus, Erythroderma, Increased circulating IgE level	OMIM:270300
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ...	OMIM:616005
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr...	OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti...	OMIM:610163
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling ...	ORPHA:530838
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis	OMIM:617571
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Psoriasis 2	Epidermal acanthosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin, Parakeratosis	OMIM:602723
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619510
Epidermolytic Hyperkeratosis	Erythroderma, Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis	OMIM:113800
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa...	OMIM:308240
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno...	OMIM:619802
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Decreased circulating total IgM,...	OMIM:243700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ...	OMIM:615559
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess, Chromosome breakage, Splenomegaly, Lym...	OMIM:609981
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Iga Pemphigus	Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ...	ORPHA:555905
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,...	OMIM:618048
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex...	OMIM:602450
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Skin rash, Eosinophilia, Erythema, Chronic mucocutaneous candidiasis, Recu...	OMIM:147060
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Atopic dermatitis, Pneumonia	OMIM:617638
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Neutropen...	OMIM:613501
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Acne Inversa, Familial, 3	Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613737
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi...	OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi...	OMIM:618282
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Increased circulating IgA level, Splenomegaly, Corneal neovascularization, ...	OMIM:617388
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m...	OMIM:616022
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L...	OMIM:615285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulating IgG level, Sple...	OMIM:616100
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope...	OMIM:301078
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat...	OMIM:607624
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ...	OMIM:614868
Immunodeficiency 19	Lymphopenia	OMIM:615617
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 17	T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro...	OMIM:615607
Mu-Heavy Chain Disease	Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut...	OMIM:614470
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Reduced delayed hyper...	OMIM:603909
Immunodeficiency 104	Lymphadenopathy, T lymphocytopenia, Splenomegaly	OMIM:608971
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis	OMIM:133200
Ichthyosis, Congenital, Autosomal Recessive 5	Epidermal acanthosis, Orthokeratosis, White scaling skin, Acanthocytosis, Erythroderma, Palmoplan...	OMIM:604777
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Fanconi Anemia, Complementation Group G	Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability	OMIM:614082
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ...	ORPHA:35078
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent skin inf...	OMIM:619752
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Papular Xanthoma	Histiocytosis	ORPHA:158008
Generalized Eruptive Histiocytosis	Histiocytosis, Maculopapular exanthema, Hypereosinophilia, Pruritus, Leukemia	ORPHA:157991
Ichthyosis, Congenital, Autosomal Recessive 6	Epidermal acanthosis, Orthokeratosis, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Palmo...	OMIM:612281
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig...	OMIM:618523
Kimura Disease	Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I...	ORPHA:482
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Chilblain Lupus	Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, P...	ORPHA:90280
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Fanconi Anemia, Complementation Group D1	Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Bone m...	OMIM:605724
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslinking agents, An...	OMIM:617243
Immunodeficiency 58	Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Decre...	OMIM:618131
Alopecia Areata 1	Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Autoimmunity, Nail pits	OMIM:104000
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Acral Peeling Skin Syndrome	Eczema, Erythema, Excessive wrinkling of palmar skin, Scaling skin	ORPHA:263534
Felty Syndrome	Sepsis, Generalized hyperpigmentation, Pericarditis, Rhinitis, Lymphadenopathy, Irregular hyperpi...	ORPHA:47612
Pemphigus Foliaceus	Pustule, Erythema, Acantholysis, Crusting erythematous dermatitis, Pruritus, Scaling skin, Erythr...	ORPHA:79481
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Erythema, Scaling skin, Pruritus	ORPHA:90158
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM, Telangiectases of the cheeks	OMIM:615139
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia, Pruritus	OMIM:607685
Juvenile Temporal Arteritis	Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis	ORPHA:26137
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy	OMIM:300719
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport...	ORPHA:2442
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615022
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pustule, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Scaling sk...	ORPHA:284426
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Aicardi-Goutieres Syndrome 5	Dry skin, Thrombocytopenia, Scaling skin, Chilblains	OMIM:612952
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Chronic sinusitis, B...	ORPHA:443811
Cole Disease	Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis	OMIM:615522
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity	OMIM:609054
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati...	ORPHA:572
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess...	OMIM:601495
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Ataxia-Telangiectasia	Type II diabetes mellitus, Lymphopenia, Decreased circulating antibody level, Delayed puberty, Di...	ORPHA:100
Whim Syndrome 2	Chronic neutropenia, Recurrent gingivitis	OMIM:619407
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Alopecia, Sepsis, Chronic otitis media, Abnormality of the l...	ORPHA:47
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te...	ORPHA:293978
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc...	OMIM:616050
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Abnormality of the lymp...	ORPHA:911
Immunodeficiency, Common Variable, 8, With Autoimmunity	B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy...	OMIM:614700
Mal De Meleda	Epidermal acanthosis, Inflammatory abnormality of the skin, Erythema, Superficial dermal perivasc...	ORPHA:87503
Chronic Actinic Dermatitis	Epidermal acanthosis, Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythrod...	ORPHA:330064
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma, Angular cheilitis	OMIM:616295
Netherton Syndrome	Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Increased ci...	OMIM:256500
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Benign Cephalic Histiocytosis	Histiocytosis, Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Trimethylaminuria	Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly	OMIM:602079
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis, Orthokeratotic hyperkeratosis	OMIM:615598
N Syndrome	Cryptorchidism, Leukemia, Abnormality of chromosome stability	OMIM:310465
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis	OMIM:617115
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Immunodeficiency 23	Sensorineural hearing impairment, Conductive hearing impairment, Lymphopenia, Vasculitis in the s...	OMIM:615816
Dilution, Pigmentary	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o...	OMIM:126070
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Dysgammaglobulinemia	ORPHA:158014
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Acrokeratosis Verruciformis	Epidermal acanthosis, Hyperkeratosis	OMIM:101900
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Pancytopenia	OMIM:600546
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus	OMIM:606952
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:275350
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Immunodeficiency 7	Lymphadenopathy, Hypereosinophilia	OMIM:615387
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In...	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ...	OMIM:600802
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Hyperkeratosis, Scaling skin, Dry skin	OMIM:609180
Atrophoderma Vermiculata	Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus, Hyperkeratotic papu...	ORPHA:79100
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat...	ORPHA:33445
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Perioral erythema, Pustule, Perianal erythema, Erythroderma, Increased circulating I...	OMIM:614328
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia, Arthritis	ORPHA:2582
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune th...	OMIM:304790
Bathing Suit Ichthyosis	Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin, Erythroderma, Parakeratosis	ORPHA:100976
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Wells Syndrome	Skin vesicle, Eosinophilia, Pruritus	ORPHA:901
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Vasculitis in the ...	ORPHA:90159
Pityriasis Rubra Pilaris	Pustule, Eczema, Subungual hyperkeratosis, Pruritus, Erythroderma, Palmoplantar keratoderma	ORPHA:2897
Bazex Syndrome	Hyperkeratosis, Scaling skin, Pruritus, Palmoplantar keratoderma, Anemia, Parakeratosis	ORPHA:166113
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, A...	OMIM:616740
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin, Cutis laxa, Pruritus	OMIM:105250
Halothane Hepatitis	Eosinophilia, Hepatitis, Viral hepatitis	OMIM:234350
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Cutaneous Mastocytoma	Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculopapular exanthema, ...	ORPHA:79455
Roifman Syndrome	Eosinophilia, Eczema, Hepatosplenomegaly, Noncompaction cardiomyopathy, Decreased circulating ant...	ORPHA:353298
Peeling Skin Syndrome 4	Epidermal acanthosis, Orthokeratosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma	OMIM:607936
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:100025
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Autosomal Dominant Severe Congenital Neutropenia	Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm...	ORPHA:486
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly	OMIM:605309
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, Aplastic anemia...	OMIM:300635
Wiskott-Aldrich Syndrome	Melena, Eczema, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed hyperse...	OMIM:301000
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Chediak-Higashi Syndrome	Hemophagocytosis, Lymphadenopathy, Splenomegaly, Abnormal dense granules, Recurrent systemic pyog...	OMIM:214500
Ichthyosis With Confetti	Erythroderma, Scaling skin, Pruritus, Palmoplantar hyperkeratosis	OMIM:609165
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve...	ORPHA:90362
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Epidermal acanthosis, Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin	ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:615024
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol...	ORPHA:276
Albinism, Oculocutaneous, Type Iv	Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Immunodeficiency 21	Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi...	OMIM:614172
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis, Pruritus	ORPHA:280785
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Sézary Syndrome	Splenomegaly, Dry skin, Abnormal immunoglobulin level, Pruritus, Erythroderma, Palmoplantar kerat...	ORPHA:3162
Kerion Celsi	Lymphadenopathy, Recurrent cutaneous abscess formation	ORPHA:499
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Comp...	OMIM:300755
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Recurrent skin infections, Pulmonic stenosis, Acantholysis, Erythroderma, Palmopl...	OMIM:615508
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Follicular hyperkeratosis, Allergic rhinitis, Pruritus, Erythroderma	OMIM:608649
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Decreased circulating IgA level, Chromosome breakage, Abnormality of the thymus, Leukemia, Abnorm...	OMIM:208910
Cinca Syndrome	Skin rash, Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveitis, Hearing im...	OMIM:607115
Griscelli Syndrome Type 2	Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial albinism, Iris hyp...	ORPHA:79477
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer	ORPHA:312
Drug Reaction With Eosinophilia And Systemic Symptoms	Pustule, Skin rash, Lymphocytosis, Interstitial pneumonitis, Eosinophilia, Erythema, Myocarditis,...	ORPHA:139402
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased...	OMIM:308230
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy	ORPHA:37748
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level...	OMIM:600903
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Immunodeficiency 88	Eosinophilia	OMIM:619630
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc...	ORPHA:3261
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Reticular Dysgenesis	Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia ...	ORPHA:33355
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Neutropenia	OMIM:266130
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Erythema Elevatum Diutinum	Skin vesicle, Increased circulating antibody level, Vasculitis in the skin, Skin rash	ORPHA:90000
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:615577
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Ichthyosis Vulgaris	Absent keratohyalin granules, Eczematoid dermatitis, Dry skin	OMIM:146700
Hereditary Folate Malabsorption	Megaloblastic anemia, Cheilitis, Pallor, Eosinophilia, Decreased circulating antibody level, Panc...	ORPHA:90045
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Recurrent skin infections, Recurrent sinusitis, Decreased circulating antib...	OMIM:616576
Icf Syndrome	Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Abnormalit...	ORPHA:2268
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par...	OMIM:240500
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Pruritus, Skin ulcer, Skin ...	ORPHA:2314
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve...	OMIM:619632
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi...	OMIM:619165
Adult Idiopathic Neutropenia	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact...	ORPHA:2688
Specific Granule Deficiency 2	Nail dysplasia, Intractable diarrhea, Neutropenia, Hirsutism, Fragile nails, Sepsis, Recurrent ba...	OMIM:617475
Bone Marrow Failure Syndrome 4	Anemia, Eczema, Leukopenia, Dry skin, Decreased circulating antibody level, Bone marrow hypocellu...	OMIM:618116
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis,...	OMIM:603552
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia	OMIM:300299
Fanconi Anemia, Complementation Group S	Anemia, Ovarian neoplasm, Chromosome breakage	OMIM:617883
Omenn Syndrome	Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal lymphocyte morphology, Pruritus, Pne...	ORPHA:39041
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Ichthyosis, Hystrix-Like, With Deafness	Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Hyperkeratosis, Punctate keratitis...	OMIM:602540
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90156
Ataxia-Telangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ...	OMIM:208900
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa...	ORPHA:189
Lymphoproliferative Syndrome 1	Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope...	OMIM:613011
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Ulerythema Ophryogenesis	Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hyperkeratotic pa...	ORPHA:3406
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l...	OMIM:619947
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis	OMIM:617526
Selective Igm Deficiency	Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons...	ORPHA:331235
Bacterial Toxic-Shock Syndrome	Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myelocyte count, Osteomy...	ORPHA:36234
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Rat-Bite Fever	Oligoarthritis, Pancreatitis, Pustule, Skin rash, Anemia, Maculopapular exanthema, Lymphadenitis,...	ORPHA:31205
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno...	OMIM:615122
Folate Malabsorption, Hereditary	Leukopenia, Diarrhea, Recurrent infections, Neutropenia, Thrombocytopenia, Folate-responsive mega...	OMIM:229050
Erythrokeratodermia Variabilis Et Progressiva 3	Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis	OMIM:617525
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Hypotension, Scaling skin,...	ORPHA:79456
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat...	ORPHA:275
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Congenital Disorder Of Glycosylation, Type Iir	Hepatomegaly, Micronodular cirrhosis, Decreased circulating antibody level, Decreased proportion ...	OMIM:301045
Immunodeficiency 49	Inflammatory abnormality of the skin, Lymphopenia, Cutis laxa, Eosinophilia, Posteriorly rotated ...	OMIM:617237
Rare Cutaneous Lupus Erythematosus	Discoid lupus rash, Cheilitis, Deep dermal perivascular inflammatory infiltrate, Telangiectasia o...	ORPHA:535
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Sepsis, Vomiting, Anti-thyroid peroxidase...	ORPHA:37042
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Short eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly eyelashes, Chronic...	OMIM:258360
Keratoderma Hereditarium Mutilans With Ichthyosis	Epidermal acanthosis, Orthokeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin o...	ORPHA:79395
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Sepsis, Diarrhea, Abnormality of the lymphatic system, Abnorm...	ORPHA:229717
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Igg4-Related Aortitis	Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, In...	ORPHA:449400
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis	ORPHA:3165
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating IgA level, Lymphopenia, Cryptorchidism, Decreased circulating IgG level, Se...	OMIM:620005
Immunodeficiency 61	Recurrent sinusitis, Agammaglobulinemia, Recurrent otitis media, Arthritis	OMIM:300310
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreas...	OMIM:618495
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
C1Q Deficiency	Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Recurrent i...	OMIM:613652
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Eosinophilia, Palpitatio...	ORPHA:75566
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis	OMIM:615023
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis, Recurrent bronchitis, Autoimmunity	OMIM:216950
Kid Syndrome	Keratitis, Acne inversa, Punctate keratitis, Severe sensorineural hearing impairment, Angular che...	ORPHA:477
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre...	OMIM:203200
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Peeling Skin Syndrome 3	White scaling skin	OMIM:616265
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Cyclic Neutropenia	Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent skin infections, Otitis media, Re...	ORPHA:2686
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s...	OMIM:300972
Psoriasis 14, Pustular	Epidermal acanthosis, Oligoarthritis, Parakeratosis, Neutrophilia, Pustule, Leukocytosis, Erythem...	OMIM:614204
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Hyperkeratosis, Erythema, Dry skin, Scaling skin	OMIM:614457
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:158061
Bare Lymphocyte Syndrome, Type Ii	Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ...	OMIM:209920
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells, Decreased response to growth hormone stimulation test, Delayed pubert...	OMIM:307200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci...	ORPHA:183675
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Lamellar Ichthyosis	Abnormal helix morphology, Lack of skin elasticity, Chronic otitis media, Dry skin, Hyperkeratosi...	ORPHA:313
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased...	ORPHA:543
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Chromosome breakage	OMIM:615272
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr...	ORPHA:508542
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Maculopapular exanthema, Chronic hepatiti...	ORPHA:39812
Hermansky-Pudlak Syndrome 2	Periodontitis, Enlarged platelet dense granules, Gastroesophageal reflux, Chronic oral candidiasi...	OMIM:608233
Roifman Syndrome	Splenomegaly, Eosinophilia, Eczema, Noncompaction cardiomyopathy, Recurrent pneumonia, Recurrent ...	OMIM:616651
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkeratosis	OMIM:242300
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula...	ORPHA:420741
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Eosinophilia, Endocarditis, Myositis, ...	ORPHA:183
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferati...	ORPHA:98849
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology	ORPHA:2786
Retinal Venous Beading	Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno...	OMIM:180080
Netherton Syndrome	Skin rash, Eczema, Dry skin, Decreased circulating antibody level, Erythroderma, Increased circul...	ORPHA:634
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ...	OMIM:617294
Hemochromatosis, Type 3	Lymphopenia, Arthritis, Hyperpigmentation of the skin, Neutropenia, Anemia	OMIM:604250
Aspergillosis	Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Intracranial hemorrhage, Hepatitis, Infectious...	ORPHA:1163
Olmsted Syndrome, X-Linked	Blepharitis, Posterior blepharitis, Epidermal acanthosis, Subungual hyperkeratosis, Palmoplantar ...	OMIM:300918
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy...	ORPHA:79124
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Diarrhea, Chronic otitis ...	ORPHA:33110
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis	ORPHA:2902
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Low-set ears, Decreased circulating antibody level, Pneumonia	OMIM:614069
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia	OMIM:618999
Retinitis Pigmentosa 35	Abnormality of skin pigmentation, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:610282
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Hypothyroidism, Bone marrow hypocellularit...	OMIM:609053
Acquired Partial Lipodystrophy	Decreased serum complement C3, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M...	ORPHA:79397
Acral Self-Healing Collodion Baby	Lack of skin elasticity, Erythema, Palmoplantar scaling skin	ORPHA:281127
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Thromb...	ORPHA:158057
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczema	OMIM:147050
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Recurrent pneumonia, Pustule, Epidermal acanthosis	OMIM:616069
Neonatal Alloimmune Neutropenia	Sepsis, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibody positivity,...	ORPHA:464370
Microphthalmia, Isolated 5	Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d...	OMIM:611040
Dermatitis, Atopic	Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Allergic...	OMIM:603165
Spondyloenchondrodysplasia With Immune Dysregulation	Hypopigmented skin patches on arms, Neutropenia, Lymphopenia, Hypermelanotic macule, Systemic lup...	OMIM:607944
Congenital Non-Bullous Ichthyosiform Erythroderma	Keratitis, Pruritus, Erythroderma, Palmoplantar keratoderma, Hearing impairment	ORPHA:79394
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented fr...	OMIM:601706
Oculotrichodysplasia	Scaling skin, Dry skin	OMIM:257960
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections, Monocytopenia, Neutropenia	ORPHA:86788
Eosinophilic Gastroenteritis	Leukocytosis, Atopic dermatitis, Eosinophilia, Hematochezia, Allergic rhinitis, Anemia	ORPHA:2070
Nijmegen Breakage Syndrome	B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc...	OMIM:251260
Oculocutaneous Albinism Type 3	Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e...	ORPHA:79433
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Hepatomegaly, Coombs-positive hemolytic anemia...	OMIM:614034
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Reduced natural kil...	OMIM:603553
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Constipation, Abnormal macular ...	ORPHA:897
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion, Epidermal acanthosis, Erythema, Pruritus, Paraker...	ORPHA:83453
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Myositis	OMIM:253600
Fanconi Anemia, Complementation Group F	Cryptorchidism, Decreased response to growth hormone stimulation test, Leukopenia, Bone marrow hy...	OMIM:603467
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hy...	ORPHA:2199
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis	OMIM:215250
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Mirage Syndrome	Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Leukopenia, H...	OMIM:617053
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec...	OMIM:612301
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma, Eosinophilia, Decreased circulating antibody level, Lymphopenia	OMIM:617425
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Good Syndrome	Abnormal leukocyte morphology, Thymoma, Mediastinal lymphadenopathy, Decreased circulating antibo...	ORPHA:169105
Lymphedema, Primary, With Myelodysplasia	Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia	OMIM:614038
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Pancreatitis, Sepsis, Optic atrophy, Neutropenia, Anemia, Thrombocytopenia	ORPHA:289916
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Systemic Lupus Erythematosus 17	Optic neuritis, Lymphopenia, Systemic lupus erythematosus, Alopecia, Leukopenia, Anti-aquaporin 4...	OMIM:301080
Neonatal Inflammatory Skin And Bowel Disease	Blepharitis, Recurrent bacterial skin infections, Pustule, Erythema, Scaling skin, Chapped lip, P...	ORPHA:294023
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Rec...	OMIM:608809
Bloom Syndrome	Decreased circulating IgA level, Type II diabetes mellitus, Decreased circulating IgG level, Chro...	OMIM:210900
Leishmaniasis	Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P...	ORPHA:507
Complement Component 5 Deficiency	Reduced hemolytic complement activity, Generalized seborrheic dermatitis, Decreased serum complem...	OMIM:609536
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Acquired Ichthyosis	Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Pruritus, Palmoplantar keratoderma	ORPHA:454
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant...	OMIM:613496
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Dry skin, Follicular hyperkeratosis, Scaling skin, Erythroderma, Hearing impairment	OMIM:308205
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Pili torti, Brittle hair, Macular degeneration, Abnormality of macular pigment...	ORPHA:1573
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ...	ORPHA:83313
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Fanconi Anemia, Complementation Group E	Neutropenia, Cryptorchidism, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Chro...	OMIM:600901
Coccidioidomycosis	Pancreatitis, Abscess, Pneumonia, Pruritus, Pericarditis, Osteomyelitis, Peritonitis, Increased c...	ORPHA:228123
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents, Aplastic anemia	OMIM:610832
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Chédiak-Higashi Syndrome	Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment...	ORPHA:167
Poikiloderma With Neutropenia	Blepharitis, Neutropenia, Reticular hyperpigmentation, Recurrent bronchopulmonary infections, Ski...	OMIM:604173
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Immunodeficiency 66	Defective T cell proliferation, Pustule, Recurrent skin infections	OMIM:618847
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,...	ORPHA:85436
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg...	OMIM:612541
Gracile Bone Dysplasia	Hypoplastic spleen, Asplenia	OMIM:602361
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab...	OMIM:251270
Deafness, Neural, With Atypical Atopic Dermatitis	Sensorineural hearing impairment, Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Decreased circulat...	ORPHA:381
Retinohepatoendocrinologic Syndrome	Optic disc pallor, Abnormality of skin pigmentation, Cone dystrophy	OMIM:268040

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