Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
recombination activating 1
Synonyms:
Rag-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rag1 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
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