Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
Synonyms:
I-kappaBalpha,  I(Kappa)B(alpha),  IkappaBalpha,  Nfkbi

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 Nfkbia 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 Nfkbia by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Dry skin, Splenomegaly, Defective production of NFKB1-dependent cytokines, Anh... OMIM:612132

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

Disease Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... OMIM:613495
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia... OMIM:312863
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Chroni... ORPHA:90280
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Urticaria, Chronic noninfectious lymphadenopathy, Autoimmune he... OMIM:601859
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Dry skin, Facial erythema, Follicular... ORPHA:3406
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Classic Mycosis Fungoides
Erythema, Hypopigmented skin patches, Skin ulcer, Eczematoid dermatitis, Dry skin, Abnormal lymph... ORPHA:2584
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur... OMIM:269840
Immunodeficiency 79
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... OMIM:619238
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Pruritus, Annular... ORPHA:737
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Weight loss, Erythroderma, Congenital bullous i... ORPHA:312
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o... ORPHA:277
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Pa... ORPHA:454
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus, Papule ORPHA:2337
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy, Erythema ORPHA:158014
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Reticular Dysgenesis
Failure to thrive, Skin ulcer, Leukopenia, Skin rash, Weight loss, Anemia, Abnormality of neutrop... ORPHA:33355
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Indurated nodule, Granuloma, Skin ulcer, Skin nod... ORPHA:542592
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Dry skin, Leukopenia, Thrombocytopenia, Anemia, Decreased circulatin... OMIM:618116
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Skin ulcer, Increased circulating IgE level, Lymphopenia, Spleno... OMIM:620603
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increa... OMIM:617388
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule ORPHA:409
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa... OMIM:618048
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... OMIM:617006
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, White papule, Skin pl... ORPHA:498359
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Congenital Panfollicular Nevus
Skin nodule, Hyperkeratosis, Verrucous papule ORPHA:139414
Isolated Agammaglobulinemia
Pneumonia, Failure to thrive, Skin ulcer, Abnormal lymphocyte morphology, Otitis media, Skin rash... ORPHA:229717
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Failure to thrive, Lymphopenia, Leukopenia, Cutis marmorata, Follicular hyperplasia, Te... OMIM:615934
Leishmaniasis
Hypoalbuminemia, Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage ... ORPHA:507
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Erythrokeratodermia Variabilis
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Weight loss, Macule, Short sta... ORPHA:317
Insulin-Resistance Syndrome Type A
Subcutaneous nodule, Delayed puberty, Hyperkeratosis ORPHA:2297
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly OMIM:212360
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Nevus, Failure to thrive, Atrophic scars, Milia, Palmoplantar hyperkeratosis, Aplas... ORPHA:89838
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Telangiectasia macularis eruptiva perstans, Urticaria OMIM:154800
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt... OMIM:604777
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymp... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, Skin ulcer, B lymphocytopenia ORPHA:217390
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity ORPHA:33314
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Papule, Hyperkeratosis ORPHA:1336
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno... OMIM:618495
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly,... OMIM:614470
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... ORPHA:2897
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h... OMIM:620507
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis, Macule OMIM:615537
Iga Pemphigus
Skin erosion, Cutaneous abscess, Ulcerative colitis, Neutrophilic infiltration of the skin, Skin ... ORPHA:555905
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Decreased ... OMIM:615607
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... OMIM:602450
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Scaling skin OMIM:270300
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Hyperkeratosis, Scaling skin OMIM:617571
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... ORPHA:397596
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Pyoderma gangrenosum, Colitis, Sterile absce... OMIM:604416
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin ORPHA:90159
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto... OMIM:102700
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess OMIM:619986
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:602723
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Dracunculiasis
Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Pruritus, Recurrent cutaneous abscess form... ORPHA:231
X-Linked Agammaglobulinemia
Recurrent pneumonia, Failure to thrive, Hypopigmented skin patches, Skin ulcer, Hepatitis, Osteom... ORPHA:47
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Ichthyosis Vulgaris
Ichthyosis, Dry skin, Eczematoid dermatitis OMIM:146700
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Ichthyos... OMIM:603165
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:614700
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Verrucous Hemangioma
Skin plaque, Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Pruritus, Milia, Hypomelanotic macule, Spotty hypopigmentation, Palmar hyp... ORPHA:79399
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Pruritus, Papule, Hyperkeratosis ORPHA:525
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... OMIM:618282
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis... ORPHA:79148
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Eczematoid dermatitis, Microcytic anemia, Dry skin, Ichthyosis, Cutis laxa, Hy... OMIM:612379
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Erythrokeratoderma ''En Cocardes''
Papule, Hyperkeratosis ORPHA:315
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... OMIM:242860
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea... ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge... OMIM:612281
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit... OMIM:620632
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Crusting erythe... ORPHA:79147
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Ichthyosis With Confetti
Ichthyosis, Decreased body weight, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Short... OMIM:609165
Pemphigus Foliaceus
Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma... ORPHA:79481
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Dermal atrophy, Interstitial pneum... ORPHA:454831
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Atrophic scars, Milia, Dermal atrophy, Skin plaque, Pruritus, Su... ORPHA:89843
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive, Dry skin, Ichthyosis, Congenital exfoliative erythroderma ORPHA:1954
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Papule, Histiocytosis, Skin rash ORPHA:157997
Sjögren-Larsson Syndrome
Erythema, Dry skin, Ichthyosis, Short stature, Inflammatory abnormality of the eye, Hyperkeratosis ORPHA:816
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in re... ORPHA:83471
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Increased circulating interferon-gamma concentration, Thrombocytopenia OMIM:612952
Sézary Syndrome
Palmoplantar keratoderma, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immuno... ORPHA:3162
Huriez Syndrome
Palmoplantar keratoderma, Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Scle... ORPHA:384
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria... ORPHA:79100
Parana Hard Skin Syndrome
Short stature, Thickened skin, Hyperkeratosis, Growth delay ORPHA:2812
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc... OMIM:256500
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis ORPHA:461
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell ... OMIM:304790
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... ORPHA:486
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:617526
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi... ORPHA:444463
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Immunodeficiency 23
Erythema, Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia,... OMIM:615816
Amyloidosis, Primary Localized Cutaneous, 3
Hypopigmented macule, Dry skin, Hypermelanotic macule, Pruritus OMIM:617920
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:436159
Diffuse Cutaneous Mastocytosis
Dermatographic urticaria, Generalized abnormality of skin, Abnormality of the spleen, Abnormality... ORPHA:79456
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Hepatomegaly, Acrocyanos... ORPHA:343
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Short stature, Pruritus, Hyperkerato... ORPHA:313
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma, Scaling... OMIM:113800
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Increased ... ORPHA:48104
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy... ORPHA:38
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis ORPHA:79503
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Punctate keratitis, Scarri... OMIM:602540
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Omenn Syndrome
Pneumonia, Thickened skin, Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Leukocyto... ORPHA:39041
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer, Thickened skin ORPHA:31112
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Petechiae, Lymphadenopathy, Thrombocytopenia, Increased cir... ORPHA:83313
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Riddle Syndrome
Decreased circulating IgG level, Dry skin OMIM:611943
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Splenomegaly, Crusting erythematous der... ORPHA:742
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Increased circulating IgE level, Hypereosinophilia, Leukocytosis... ORPHA:2902
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Petechiae, Anemia, ... OMIM:612840
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Anemia, Pruritus, Hy... ORPHA:166113
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Skin ulcer, Eczematoid dermatitis, Splenomegaly, Petechia... OMIM:170100
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Epidermal acanthosis, Failure to thrive OMIM:616069
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutro... OMIM:616395
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Hypergranulosis, In... OMIM:615508
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Hemophagocytosis, Hepatosplenomegaly, Erythematous plaque, Weigh... ORPHA:86884
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Perioral erythema, Perianal erythema, Failure to thrive OMIM:614328
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Dry skin, Leukopenia, Thrombocytopeni... OMIM:620184
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Skin vesicle, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia... ORPHA:293173
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Erythematous p... ORPHA:3243
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency 53
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Skin rash, Impaired lymphocyte tr... OMIM:617585
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... OMIM:275350
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Scarring alopecia of scalp, Follicul... OMIM:308800
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling ski... ORPHA:100976
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:607936
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Epidermal acanthosis, Scaling skin ORPHA:90368
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Purpura, Incre... ORPHA:540
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Autoimmunity, Recurrent infect... OMIM:137100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis OMIM:131850
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Increased body weight, Increased body mass index, Anemia, Growth delay OMIM:614450
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin OMIM:620148
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Delayed puberty, Follicular hyperkeratosis, Overweight, Mildly elevated creatine kinase ORPHA:486815
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Thrombocytopenia 1
Decreased mean platelet volume, Bruising susceptibility, Increased circulating IgE level, Petechi... OMIM:313900
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Epidermal acanthosis ORPHA:2269
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Lichenoid skin lesion, ... ORPHA:87503
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Growth delay, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous... OMIM:614457
Tempi Syndrome
Polycythemia, Increased hematocrit, Telangiectasia, Facial erythema, Increased circulating IgG level ORPHA:284227
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... OMIM:300635
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Impaired T cell function, Failure to thrive, Dry skin, Decreased testicular si... OMIM:201100
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Cold urticaria, Vascular skin abnormality, Paraproteinem... ORPHA:91139
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Ichthyosis, Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreased ... OMIM:616943
Leopard Syndrome 3
Growth delay, Multiple lentigines, Dry skin, Few cafe-au-lait spots, Short stature, Hyperkeratosi... OMIM:613707
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Throm... OMIM:619644
Dowling-Degos Disease
Hyperkeratotic papule, Palmar pits, Erythematous papule, Epidermoid cyst, Acne inversa, Hyperpigm... ORPHA:79145
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Skin erosion, Skin plaque, Papule, Hyperkeratosis OMIM:247100
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Poor wound healing, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoi... OMIM:620565
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Beta-Thalassemia
Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglobin, Thrombocytop... ORPHA:848
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Hatipoglu Immunodeficiency Syndrome
Hyperpigmented/hypopigmented macules, Atopic dermatitis, Thickened skin, Failure to thrive, Eczem... OMIM:620331
Congenital Ichthyosiform Erythroderma
Palmoplantar keratoderma, Failure to thrive, Keratitis, Ichthyosis, Erythroderma, Short stature, ... ORPHA:79394
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer, Lymphopenia, Morphea, Neutropenia, Elevated circulating C-reactive protein concentration OMIM:620443
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Papa Syndrome
Skin ulcer, Crohn's disease, Increased inflammatory response, Increased circulating antibody leve... ORPHA:69126
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer ORPHA:493
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Sca... OMIM:616295
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Dry skin, Intrauterine growth re... OMIM:617827
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Dry skin, Erythroderma, Scaling skin, Hyperkeratosis OMIM:609180
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Psoriasiform lesion, Esophagitis, Chronic otitis media,... OMIM:618131
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neutrophilic Dermatosis, Acute Febrile
Erythema, Increased circulating interleukin 6 concentration, Acne inversa, Panniculitis, Elevated... OMIM:608068
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM leve... ORPHA:37748
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Erythroderma, Hypergranulosis OMIM:615022
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... OMIM:601495
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
Immunodeficiency 32B
Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepato... OMIM:226990
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Cutaneous Mastocytoma
Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Angioedema, Telan... ORPHA:79455
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder... OMIM:254450
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate... ORPHA:284426
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent viral infections, Lymphopenia, Lymph node hypoplasia, Recurrent lower res... OMIM:613179
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Takayasu Arteritis
Skin ulcer, Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Ar... ORPHA:3287
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Dry skin, Skin rash, Ichthyosis, Acanthos... ORPHA:634
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Acral ulceration OMIM:614213
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Scaling skin ORPHA:263534
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Leukocytosis, Pustule, Parakeratosis, Oligoarthritis, Neutroph... OMIM:614204
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin OMIM:607602
Ollier Disease
Anemia, Subcutaneous nodule, Skin ulcer ORPHA:296
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Chronic Mucocutaneous Candidiasis
Erythema, Papule, Skin ulcer, Hepatitis, Skin rash, Pruritus, Cheilitis, Hyperkeratosis ORPHA:1334
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Pruritus, Blepharitis OMIM:618535
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Ski... ORPHA:2314
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Schopf-Schulz-Passarge Syndrome
Dry skin, Palmoplantar keratoderma, Hyperkeratosis OMIM:224750
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosin... ORPHA:139402
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Pili Torti-Onychodysplasia Syndrome
Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Generalized keratosis follicu... ORPHA:2890
C1Q Deficiency 2
Facial erythema, Decreased circulating C1q concentration, Vasculitis in the skin, Anemia, Reduced... OMIM:620321
Meige Disease
Atypical scarring of skin, Skin erosion, Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent s... ORPHA:90186
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er... OMIM:242300
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia, Increased ci... ORPHA:29073
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Generalized ichthyosis, Pruritus OMIM:608649
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Thyrotropin-Releasing Hormone Deficiency
Short stature, Dry skin OMIM:275120
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T... OMIM:618213
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Primary Erythromelalgia
Leukemia, Erythema ORPHA:90026
Acquired Purpura Fulminans
Macular purpura, Skin rash, Macule, Thrombocytopenia, Pyoderma gangrenosum, Elevated circulating ... ORPHA:49566
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Erythematous plaque, Splenomegaly, Skin rash, Parakera... ORPHA:398124
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice... OMIM:620376
Acrogeria
Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Short stature, Thin skin ORPHA:2500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin, Cutaneous photosensitivity, Urticaria ORPHA:1184
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi... OMIM:307200
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin, Abnormal lymph node morphology ORPHA:33111
Dominant Beta-Thalassemia
Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Fa... ORPHA:231226
Moynahan Syndrome
Short stature, Cachexia, Hyperkeratosis ORPHA:2574
Idiopathic Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue, Scaling skin ORPHA:90158
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor... OMIM:615023
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Ectodermal... OMIM:300291
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Microcytic anemia, Cirrhosis, Cutaneous photosensitivity ORPHA:79278
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Portal hyp... OMIM:613385
Vulvovaginal Gingival Syndrome
Erythema, Skin erosion, Abnormality of tumor necrosis factor secretion, Parakeratosis, Pruritus ORPHA:83453
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus ORPHA:100
Chronic Granulomatous Disease
Skin ulcer, Eczematoid dermatitis, Splenomegaly, Otitis media, Macule, Sinusitis, Inflammatory ab... ORPHA:379
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Fusariosis
Abnormality of the spleen, Lymphopenia, Neutropenia, Subcutaneous nodule, Skin detachment, Granul... ORPHA:228119
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Weight loss, Pancreatitis, Macule, Thrombocytopenia, Neutropenia, Anemia, C... ORPHA:537
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Failure to thrive, Dry skin, Ichthyosis, Hyperkeratosis OMIM:610768
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis, Short stature, Cafe-au-lait spot OMIM:618625
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Dec... OMIM:612301
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Centrifugal Lipodystrophy
Erythema, Lymphadenitis, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Sc... ORPHA:90156
Phenylketonuria
Dry skin, Eczematoid dermatitis, Scleroderma OMIM:261600
Polyarteritis Nodosa
Erythema, Skin ulcer, Weight loss, Elevated circulating C-reactive protein concentration, Subcuta... ORPHA:767
Darier Disease
Thickened skin, Plantar pits, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrok... ORPHA:218
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Riddle Syndrome
Decreased circulating IgG level, Erythema, Decreased circulating IgA level, Telangiectasia, Conju... ORPHA:420741
Systemic Lupus Erythematosus 17
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop... OMIM:301080
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Beta-Thalassemia Intermedia
Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Dry skin, Obesity, Acanthosis nigricans, Short stature ORPHA:3085
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t... OMIM:620040
Uv-Sensitive Syndrome 3
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:614640
Adult-Onset Still Disease
Bone marrow hypocellularity, Erythema, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Gener... ORPHA:829
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis OMIM:613943
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Early cutaneous photosensitivity OMIM:219095
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythem... OMIM:615688
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infilt... OMIM:618531
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation OMIM:600546
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... ORPHA:2199
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczematoid dermatitis ORPHA:2101
Infantile Digital Fibromatosis
Skin nodule, Parakeratosis, Hyperkeratosis ORPHA:199267
Beta-Thalassemia Major
Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Fa... ORPHA:231214
Lichen Planus Pemphigoides
Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis ORPHA:254478
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis ORPHA:2841
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Hepatomegal... ORPHA:79330
Recon Progeroid Syndrome
Progeroid facial appearance, Dry skin, Livedo reticularis, Scaling skin, Thrombocytopenia, Anemia... OMIM:620370
Acrokeratosis Verruciformis
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis OMIM:101900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Splenomegaly, Sclerosing cholangitis, Ichthyosis, Parakeratosis, Pruritus OMIM:607626
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Ectodermal Dysplasia-Blindness Syndrome