Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interferon regulatory factor 2
Synonyms:
9830146E22Rik,  Irf-2

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 Irf2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Irf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Quinquaud Folliculitis Decalvans
Patchy alopecia, Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp,... ORPHA:346
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Abnormality of the nail, Pruritus, Erythema, Splenomegaly, Eczema... ORPHA:2584
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule ORPHA:222
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Hypotrichosis 6
Brittle hair, Pruritus, Pili torti, Erythema, Sparse eyebrow, Sparse eyelashes, Follicular hyperk... OMIM:607903
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus ORPHA:2337
Kerion Celsi
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Alopecia, Recur... ORPHA:499
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema, Hypertrichosis OMIM:617524
Bullous Impetigo
Erythema, Pustule, Recurrent bacterial skin infections, Septic arthritis, Abnormality of the lymp... ORPHA:36237
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology, Erythema, Pruritus, Cutaneous photosensitivity ORPHA:33314
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections, Agammaglobulinemia OMIM:616941
Mycosis Fungoides
Pruritus, Erythema, Eczema, Psoriasiform dermatitis, Lymphadenopathy OMIM:254400
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Diffuse palmoplantar hyperkeratosis, Erythema, Palmoplantar scaling skin, Atopic dermat... ORPHA:530838
Centrifugal Lipodystrophy
Lymphadenitis, Erythema, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Sc... ORPHA:90156
Cutaneous Collagenous Vasculopathy
Bruising susceptibility, Petechiae, Pruritus, Vascular skin abnormality, Erythema, Prominent supe... ORPHA:280779
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Nail dysplasia, Facial erythema, Nail dystrophy, Hyperkeratosis, Alo... OMIM:212360
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Mal De Meleda
Palmoplantar keratoderma, Superficial dermal perivascular inflammatory infiltrate, Erythema, None... ORPHA:87503
Vibratory Urticaria
Flushing, Urticaria, Facial erythema OMIM:125630
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Thrombocytopenia, ... ORPHA:169079
Acquired Ichthyosis
Palmoplantar keratoderma, Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Dry skin ORPHA:454
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Facial erythema, Conjunctivitis, Eczema, Allergic rhinitis, ... OMIM:603165
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Erythema, Cutaneous pho... ORPHA:317
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Recurrent skin infections, Erythema, Urticaria, Purpura, Skin rash ORPHA:889
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Palmoplantar keratoderma, Erythema OMIM:617525
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Striae distensae, Parakeratosis, Pruritus on foot, Facial erythema... ORPHA:64745
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Palmoplantar keratoderma, Epidermal hyperkeratosis, Nail dysplasia, Sparse eyebrow,... OMIM:104100
Acne Inversa, Familial, 3
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality o... ORPHA:90159
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Recurrent viral infections, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Recurrent ur... OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Psoriasiform lesion, Decreased proportion of CD4-po... ORPHA:169154
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Erythema, Cutaneous mastocytosis, Urticaria OMIM:154800
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:612692
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Erythema, Onycholysis, Abnormality of hair texture, Scaling skin OMIM:270300
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Palmoplantar hyperkeratosis, Erythema OMIM:607602
Sézary Syndrome
Abnormal lymphocyte morphology, Pruritus, Palmoplantar keratoderma, Splenomegaly, Nail dystrophy,... ORPHA:3162
Chilblain Lupus
Cutis marmorata, Chronic myelomonocytic leukemia, Pruritis on hand, Hyperkeratosis, Malar rash, D... ORPHA:90280
Granulomatous Slack Skin
Abnormality of the lymph nodes, Erythema, Redundant skin, Cutis laxa ORPHA:33111
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Abnormality of the nail, Blepharitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Scarri... OMIM:308800
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Erythema, Early cutaneous photosensitivity OMIM:219095
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Ulerythema Ophryogenesis
Sparse lateral eyebrow, Acne, Facial erythema, Contact dermatitis, Follicular hyperkeratosis, Dry... ORPHA:3406
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Myositis, Cutis marmorata, Thrombocytosis, Periungual e... OMIM:615934
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis, Hypertrichosis OMIM:609165
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Skin ulcer ORPHA:312
Atrophoderma Vermiculata
Follicular hyperkeratosis, Erythema, Pruritus, Hyperkeratotic papule ORPHA:79100
Rosaï-Dorfman Disease
Anemia, Erythema, Lymphadenopathy ORPHA:158014
Diffuse Cutaneous Mastocytosis
Pruritus, Myeloproliferative disorder, Dermatographic urticaria, Urticaria, Darier's sign, Erythr... ORPHA:79456
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... ORPHA:277
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:613502
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Woolly hair, Parakeratosis, Erythema, Nail dystrophy, Hyperke... OMIM:615821
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Blepharitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplasia, Sparse eyebrow... OMIM:612843
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Parakeratosis, Erythema, Neutrophilia, Nail dystrophy, Oligoarthritis,... OMIM:614204
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Sepsis... OMIM:267500
Necrobiosis Lipoidica
Erythema, Telangiectasia of the skin, Granuloma, Abnormality of neutrophil physiology, Inflammato... ORPHA:542592
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Decreased prop... OMIM:618204
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pruritus, Leukocytosis, Pneumonia, Aplasia/Hypoplas... ORPHA:39041
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Idiopathic Localized Lipodystrophy
Pruritus, Erythema, Reduced subcutaneous adipose tissue, Scaling skin, Inflammatory abnormality o... ORPHA:90158
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema OMIM:248300
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Patchy alopecia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulat... OMIM:606367
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent cutaneous fungal infections, Diffuse palmoplantar hyperkeratosis, Dystrophic toenail, P... ORPHA:495
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Palmoplantar hyperkeratosis, Erythema, Dystrophic toe... ORPHA:158673
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Perianal erythema, Perioral erythema, Erythroderma, Onychogryposis, Pustule, Paronychia OMIM:614328
Chilblain Lupus 1
Skin ulcer, Chilblains, Abnormality of the nail OMIM:610448
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Pityriasis Rubra Pilaris
Abnormality of the nail, Pruritus, Palmoplantar keratoderma, Eczema, Erythroderma, Pustule, Subun... ORPHA:2897
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Angioedema, Infectious encephalitis, Erythema, Interstitial pneumonitis, Myocarditi... ORPHA:139402
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Maculopapular Cutaneous Mastocytosis
Pruritus, Dermatographic urticaria, Erythema, Darier's sign, Flushing, Generalized abnormality of... ORPHA:79457
Primary Erythromelalgia
Erythema, Leukemia, Pruritus ORPHA:90026
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Anemia, Erythroderma, Lymphadeno... OMIM:603554
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Epidermolytic Hyperkeratosis
Erythroderma, Palmoplantar hyperkeratosis, Scaling skin OMIM:113800
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Lymphadenopathy, Otitis media OMIM:608971
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Palmoplantar keratoderma, Absent eyelashes, Scarring alopecia of scalp, Spars... OMIM:602540
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Keratolytic Winter Erythema
Erythema OMIM:148370
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Recurrent r... ORPHA:33355
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Pruritus, Angioedema, Maculopapular exanthema, Erythe... ORPHA:79455
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Inflammatory abnormality of the skin, Crusti... ORPHA:79147
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Recurrent opportunistic infections, Panhypogammaglobulinemia, B lymphocytopeni... OMIM:601457
Netherton Syndrome
Brittle hair, Hypereosinophilia, Angioedema, Parakeratosis, Sparse eyebrow, Urticaria, Erythroder... OMIM:256500
Ichthyosis Prematurity Syndrome
Pruritus, Dermatographic urticaria, Erythroderma, Allergic rhinitis, Follicular hyperkeratosis, A... OMIM:608649
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific antibody response to protein-conjugate... ORPHA:70593
Immunodeficiency, Common Variable, 7
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... OMIM:614699
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Cutaneous abscess, Erythema, Eczematoid dermatitis, Skin rash,... OMIM:147060
Lamellar Ichthyosis
Abnormality of the nail, Pruritus, Dry skin, Aplasia/Hypoplasia of the eyebrow, Hyperkeratosis, E... ORPHA:313
Erythema Of Acral Regions
Erythema OMIM:227000
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Recurrent otitis media, Pruritus, Angioedema, Hashimoto thyroiditis, Dermatograph... OMIM:614468
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... OMIM:616873
Prolidase Deficiency
Generalized hirsutism, Pruritus, Palmoplantar keratoderma, Erythema, Splenomegaly, White forelock... ORPHA:742
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Adult-Onset Still Disease
Pruritus, Leukocytosis, Bone marrow hypocellularity, Erythema, Splenomegaly, Neutrophilia, Genera... ORPHA:829
Bullous Diffuse Cutaneous Mastocytosis
Urticaria, Erythroderma, Pruritus, Cutaneous mastocytosis ORPHA:280785
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Pruritus, Erythema, Cutaneous photosensitivity, Eczema ORPHA:79278
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis, Decreased proportion of CD4-positive helpe... OMIM:312863
Vulvovaginal Gingival Syndrome
Erythema, Pruritus, Ridged nail, Parakeratosis ORPHA:83453
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Pemphigus Foliaceus
Pruritus, Erythema, Acantholysis, Erythroderma, Scaling skin, Psoriasiform dermatitis, Pustule, C... ORPHA:79481
Dermatitis Herpetiformis
Microcytic anemia, Pruritus, Erythema, Urticaria, Eczema, Skin vesicle ORPHA:1656
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:618944
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Pruritus, Maculopapular exanthema, Splenomegaly, Urt... ORPHA:98848
Bathing Suit Ichthyosis
Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythroderma, Scaling skin, Alopecia,... ORPHA:100976
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Sjögren-Larsson Syndrome
Inflammatory abnormality of the eye, Erythema, Urticaria, Hyperkeratosis, Dry skin ORPHA:816
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Recurrent viral infections, Autoimmune throm... OMIM:300853
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Lymphadenopathy, Pustule, Skin ... ORPHA:69126
Dracunculiasis
Pruritus, Skin ulcer, Recurrent cutaneous abscess formation, Arthritis, Skin rash ORPHA:231
Sydenham Chorea
Septic arthritis, Erythema, Endocarditis ORPHA:306731
Wiskott-Aldrich Syndrome 2
Recurrent infections, Reduced natural killer cell activity, Defective T cell proliferation, Decre... OMIM:614493
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Autoimmune hemolyt... ORPHA:331206
Bullous Pemphigoid
Eczema, Erythema, Urticaria, Psoriasiform dermatitis ORPHA:703
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Hemolytic anemia, Pruritus OMIM:177000
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Leukocytos... OMIM:619281
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Erythema, Pruritus ORPHA:79099
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Hepatosplenomegaly... OMIM:618982
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Petechiae, Impaired neutroph... OMIM:619374
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Nail bed telangiectasia, Psoriasiform lesion, Pterygium of... ORPHA:535
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Autoimmune hemolytic anemia, Decreased circulating ant... OMIM:616576
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Erythema, Cystic acne, Anemia, Pyoderma gangrenosum, Panniculitis OMIM:608068
Odontoonychodermal Dysplasia
Orthokeratosis, Nail dysplasia, Erythema, Fine hair, Anonychia, Dystrophic toenail, Sparse eyebro... OMIM:257980
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e... OMIM:618806
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Recurrent respiratory infections, B lymp... OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hyperkeratosis, Erythroderma, Scaling sk... OMIM:612281
Chronic Actinic Dermatitis
Pruritus, Cutaneous photosensitivity, Eczema, Erythroderma, Allergic rhinitis, Late onset atopic ... ORPHA:330064
Netherton Syndrome
Abnormal hair morphology, Sparse eyebrow, Urticaria, Fine hair, Trichorrhexis nodosa, Eczema, Ery... ORPHA:634
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Ecchymosis, Hemophagocytosis, Infectious encephalitis, Maculo... ORPHA:540
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis OMIM:615024
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Urticaria, Dry skin ORPHA:1954
Immunodeficiency 55
Recurrent skin infections, Neutropenia, Eczema, Lymphadenopathy, Dry skin OMIM:617827
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Palmoplantar hyperkeratosis, Nail dysplasia, Nail dystrophy, Erythroderma, Alopeci... OMIM:242300
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Erythema, Splenomegaly, Panniculitis, Lymphadenopathy OMIM:619183
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Splenomegaly, B lymphocytopenia, Recurrent bronchiolitis,... OMIM:619164
Hypotrichosis Simplex Of The Scalp
Pruritus, Parakeratosis, Fine hair, Hyperkeratosis, Allergic rhinitis, Atopic dermatitis, Scaling... ORPHA:90368
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Increased circula... OMIM:619220
Congenital Non-Bullous Ichthyosiform Erythroderma
Abnormality of the nail, Pruritus, Palmoplantar keratoderma, Erythroderma, Alopecia, Keratitis ORPHA:79394
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Blepharitis, Erythema, Chronic monilial nail infection, Onyc... ORPHA:294023
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... ORPHA:169160
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Absent n... OMIM:600802
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Urticaria, Recurrent aphthous stomatitis, Lymphaden... OMIM:611762
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibo... OMIM:615285
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Splenomegaly, B lymphocytopenia OMIM:619437
Chronic Mucocutaneous Candidiasis
Abnormality of the nail, Pruritus, Broad nail, Erythema, Abnormal toenail morphology, Hyperkerato... ORPHA:1334
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Erythroderma, ... OMIM:615508
Lichen Planopilaris
Pruritus, Onycholysis, Hyperkeratosis, Hepatitis, Alopecia, Skin ulcer, Abnormal fingernail morph... ORPHA:525
Familial Cold Urticaria
Pruritus, Arthritis, Erythema, Urticaria, Conjunctivitis ORPHA:47045
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Urticaria, Recurrent aphthous stomatitis, Lymphadenopathy, Acrocyanosis, P... ORPHA:343
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Recurrent loss of toenails and fingernails, Skin ulcer OMIM:245660
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocy... OMIM:617514
Acrodermatitis Enteropathica
Abnormality of the nail, Blepharitis, Erythema, Conjunctivitis, Cheilitis, Ridged fingernail, Pus... ORPHA:37
Pili Torti-Onychodysplasia Syndrome
Brittle hair, Palmoplantar keratoderma, Absent eyelashes, Congenital onychodystrophy, Sparse body... ORPHA:2890
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Dry skin OMIM:609180
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Erythema, Orthokeratosis OMIM:613943
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... OMIM:137100
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Arthritis, Neutropenia, An... ORPHA:47
Ifap Syndrome 2
Posterior blepharitis, Atrichia, Angular cheilitis, Nail dystrophy, Perioral erythema, Keratoconj... OMIM:619016
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Acanthocytosis, Erythroderma OMIM:604777
Lig4 Syndrome
Pancytopenia, Leukocytosis, Erythema, Cutaneous photosensitivity, Telangiectasia of the skin, Low... ORPHA:99812
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Seborrheic dermatitis, Pallor, Stomatitis, Thr... OMIM:246400
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Pili torti, Cutaneous photosensitivity, Fine hair, Trichorrhexis nodosa... OMIM:601675
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Rhinitis, Lymphad... ORPHA:507
Oral Erosive Lichen
Cheilitis, Erythema, Dry skin ORPHA:31142
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Follicular hyperplasia, Lymphadenopathy, Decreased proportion... OMIM:619126
Incontinentia Pigmenti
Eosinophilia, Atrophic, patchy alopecia, Leukocytosis, Coarse hair, Uveitis, Supernumerary nipple... OMIM:308300
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Palmoplantar keratoderma, Abnormal hair morphology, Erythema, Thin nail, Hyperkeratos... OMIM:242100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Erythema, Sparse hair, Alopecia, Skin ulcer, Abnormal fingernail morpho... ORPHA:659
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Prolidase Deficiency
Recurrent pneumonia, Petechiae, Splenomegaly, Eczema, Anemia, Prolonged neonatal jaundice, Diffus... OMIM:170100
Complex Regional Pain Syndrome
Slow-growing nails, Erythema, Dry skin, Abnormality of hair growth ORPHA:83452
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Pruritus, Leukopenia, Erythema, Splenomegaly, Cervical lymphadenopathy, G... ORPHA:50918
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy ORPHA:79503
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Urticaria, Lymphadenopathy, Conjunctivitis, Arthritis OMIM:617772
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Erythema, Scaling skin, Dry skin OMIM:614457
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Recurrent otitis media, Increased circulating IgG ... OMIM:243700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Bruising susceptibility, Myositis, Leukocytosis, Uveitis, Arthritis, Orchitis, Perito... ORPHA:32960
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Abnormality of the nail, Palmoplantar keratoderma, Sparse eyebrow, Absent hair, Facial erythema, ... ORPHA:1010
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Erythema, Pustule, Pruritus ORPHA:48377
Microscopic Polyangiitis
Sinusitis, Uveitis, Cutis marmorata, Arthritis, Peritonitis, Increased inflammatory response, Ery... ORPHA:727
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Pruritus, Recurrent skin infections, Bronchiectasis, Eczema... OMIM:618282
Polyarteritis Nodosa
Skin ulcer, Erythema, Cutis marmorata, Pericarditis ORPHA:767
Fixed Drug Eruption
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis, Stomatitis ORPHA:293812
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythema, Acantholysis ORPHA:455
Immunodeficiency 58
Cold urticaria, Recurrent pneumonia, Cutaneous abscess, Colitis, Psoriasiform lesion, Molluscum c... OMIM:618131
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Behcet Syndrome
Patchy alopecia, Erythema nodosum, Iritis, Erythema, Iridocyclitis, Epididymitis, Arthritis OMIM:109650
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma, Palmoplantar keratoderma OMIM:615022
Schnitzler Syndrome
Pruritus, Leukocytosis, Splenomegaly, Urticaria, Anemia, Lymphadenopathy, Arthritis, Skin rash ORPHA:37748
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Recurr... OMIM:102700
Immunoglobulin A Vasculitis
Bruising susceptibility, Angioedema, Vascular skin abnormality, Orchitis, Infectious encephalitis... ORPHA:761
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300755
Corneodermatoosseous Syndrome
Erythroderma, Palmoplantar hyperkeratosis, Onycholysis OMIM:122440
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Follicular hyperkeratosis, Nail dysplasia, Absent eyebrow, Nail dystrophy, Eryt... OMIM:308205
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Recurrent otitis media, Decreased proportion of memory B cells, He... OMIM:615559
Nodular Non-Suppurative Panniculitis
Panniculitis, Erythema, Splenomegaly, Inflammatory abnormality of the eye ORPHA:33577
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia,... OMIM:603552
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Palmoplantar hyperkeratosis, Erythema, Flushing, Eczematoid dermatitis, Seborrheic dermatitis, Re... OMIM:259100
Elastoderma
Eczema, Erysipelas, Premature skin wrinkling, Cutis laxa ORPHA:228240
Acrogeria
Prematurely aged appearance, Fine hair, Telangiectasia of the skin, Skin ulcer, Excessive wrinkle... ORPHA:2500
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Cutaneous photosensitivity, Splenomegaly, Mediast... ORPHA:379
Cryoglobulinemic Vasculitis
Viral hepatitis, Petechiae, Cutis marmorata, Splenomegaly, Mediastinal lymphadenopathy, Keratocon... ORPHA:91138
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema OMIM:609313
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Alopecia OMIM:618840
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased c... OMIM:619652
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Erythema OMIM:606545
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Dermatoosteolysis, Kirghizian Type
Keratitis, Skin ulcer, Nail dysplasia, Nail dystrophy OMIM:221810
Meige Disease
Cobblestone-like hyperkeratosis, Recurrent skin infections, Absence of lymph node germinal center... ORPHA:90186
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule ORPHA:79148
Porphyria Cutanea Tarda, Type I
Eczema, Fragile skin, Hypertrichosis OMIM:176090
Immunodeficiency 23
Eosinophilia, Vasculitis in the skin, Erythema, Molluscum contagiosum, Abscess, Neutropenia, Ecze... OMIM:615816
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Splenomegaly, Anemia, Abn... OMIM:612840
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Dry skin, Onycholysis OMIM:104570
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Hepatitis, Pallor, Skin ulcer, Thro... ORPHA:848
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, Sepsis, B lymphocytopenia, Abscess OMIM:612260
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia, Pustule, S... ORPHA:48104
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Splenomegaly, Perioral erythema, Alopecia of scalp, Dry skin, Paronychia OMIM:201100
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Inflammatory abnormality of the skin, Pancreatitis, Throm... ORPHA:3260
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Aicardi-Goutieres Syndrome 1
Petechiae, Chilblains, Erythema, Splenomegaly, Thrombocytopenia, Prolonged neonatal jaundice, Acr... OMIM:225750
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Recurrent abscess formation, T lymphocytopenia, Decreased proportion of memory B ce... ORPHA:79124
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Facial erythema OMIM:618307
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent viral infections, Recurrent ear infections, Acute ... ORPHA:486
Juvenile Dermatomyositis
Pericarditis, Pruritus, Myositis, Mucosal telangiectasiae, Arthritis, Erythema, Cutaneous photose... ORPHA:93672
Epidermodysplasia Verruciformis
Telangiectasia of the skin, Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Osteomyelitis, Skin ulcer ORPHA:2218
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema ORPHA:100057
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Incontinentia Pigmenti
Eosinophilia, Abnormality of the nail, Uveitis, Abnormal hair morphology, Broad nail, Supernumera... ORPHA:464
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Skin rash OMIM:618963
Copper Deficiency, Familial Benign
Anemia, Early balding, Seborrheic dermatitis, Curly hair OMIM:121270
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Chikungunya
Petechiae, Pruritus, Erythema nodosum, Arthritis, Infectious encephalitis, Maculopapular exanthem... ORPHA:324625
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Pruritus, Abnormal hair morphology, Eczema, Osteomyelitis, Chronic otitis media, Dy... ORPHA:2314
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of the nail, Patchy alopecia, Coarse hair, Scarring alopecia of scalp, Abnormal hair ... ORPHA:35173
Idiopathic Trachyonychia
Abnormality of the periungual region, Patchy alopecia, Autoimmune thrombocytopenia, Nail pits, Th... ORPHA:79153
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Livedo racemosa, Anemia, Skin ulcer,... OMIM:615688
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Eosinophilia, Lymphadenitis, Hepatosplenomegaly, Pneumonia, ... ORPHA:911
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous ... ORPHA:3392
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Foot osteomyelitis, Acral ulceration ORPHA:139578
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis, Fragile nails, Alopecia OMIM:242150
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Skin ulcer, Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2028
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:619752
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Thymic Aplasia
Recurrent Staphylococcus aureus infections, T lymphocytopenia, Recurrent streptococcus pneumoniae... ORPHA:83471
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Erythroderma, Orthokeratosis OMIM:615023
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis ... OMIM:614700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Petechiae, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmun... OMIM:603909
Pseudopelade Of Brocq
Abnormality of the nail, Recurrent skin infections, Abnormal hair morphology, Aplasia/Hypoplasia ... ORPHA:129
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Hereditary Spherocytosis
Reticulocytosis, Maculopapular exanthema, Gout, Increased mean corpuscular hemoglobin concentrati... ORPHA:822
Rheumatic Fever
Sinusitis, Erythema, Myocarditis, Endocarditis, Pericarditis, Pallor, Arthritis ORPHA:3099
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Familial Tumoral Calcinosis
Erythema, Splenomegaly, Skin rash ORPHA:53715
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Erythema, Ulcerative colitis OMIM:614878
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Eczema, Anemia, Thrombocytopenia, Dry skin OMIM:618116
Familial Mediterranean Fever
Erysipelas, Arthritis, Orchitis, Peritonitis, Erythema, Splenomegaly, Osteoarthritis, Lymphadenop... ORPHA:342
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Increased circulating antibody level, Splenomegaly ORPHA:100024
Reynolds Syndrome
Pruritus, Mucosal telangiectasiae, Infectious encephalitis, Jaundice, Telangiectasia of the skin,... ORPHA:779
Ollier Disease
Anemia, Skin ulcer, Lymphangioma ORPHA:296
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Fusariosis
Sinusitis, Myositis, Pneumonia, Lung abscess, Arthritis, Peritonitis, Maculopapular exanthema, Fa... ORPHA:228119
Snakebite Envenomation
Erythema, Thrombocytopenia, Ecchymosis, Angioedema ORPHA:449285
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Absent tonsils, Otitis media, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Skin ulcer, Purpura ORPHA:743
Griscelli Syndrome Type 2
Pancytopenia, Premature graying of hair, Hypopigmentation of hair, Petechiae, Hemophagocytosis, S... ORPHA:79477
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Hereditary Acrokeratotic Poikiloderma
Palmoplantar hyperkeratosis, Erythema, Dystrophic toenail, Keratoconjunctivitis, Urticaria, Nail ... ORPHA:2907
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Recurrent respiratory infections, Decreased circula... ORPHA:2643
Pachydermoperiostosis
Palmoplantar keratoderma, Arthritis, Abnormal hair pattern, Splenomegaly, Acne, Anemia, Osteomyel... ORPHA:2796
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Pruritus, Cutaneous abscess, Acantholysis, P... ORPHA:555905
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Poor wound healing, Hyperkeratosis, Osteomyelitis, Skin ulcer ORPHA:36386
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Recurrent infections, Leukopenia, Autoimmune hemol... OMIM:613011
Bare Lymphocyte Syndrome, Type I
Skin ulcer, Chronic sinusitis, Chronic otitis media, Bronchiectasis OMIM:604571
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Biotinidase Deficiency
Recurrent skin infections, Splenomegaly, Seborrheic dermatitis, Alopecia, Conjunctivitis, Skin rash OMIM:253260
Erythema Elevatum Diutinum
Vasculitis in the skin, Skin vesicle, Skin rash ORPHA:90000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Recurrent skin infections, Erythema, Nail dystrophy, Anemia, Onychogryp... ORPHA:79396
Bazex Syndrome
Coarse hair, Pili torti, Acne inversa, Trichorrhexis nodosa, Eczema, Atopic dermatitis, Trichoepi... OMIM:301845
Tempi Syndrome
Telangiectasia, Increased hematocrit, Facial erythema, Polycythemia ORPHA:284227
Riddle Syndrome
Recurrent pneumonia, Pneumonia, Erythema, Generalized lymphadenopathy, Conjunctival telangiectasi... ORPHA:420741
Blau Syndrome
Erythema nodosum, Posterior uveitis, Erythema, Splenomegaly, Iridocyclitis, Anemia, Retrobulbar o... ORPHA:90340
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Eczema, Refractory ... OMIM:616871
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Lymphadenitis, Acute pancreatitis, Sple... OMIM:618935
Fountain Syndrome
Thick eyebrow, Erythema, Cutis marmorata, Synophrys ORPHA:3219
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Macular purpura, Ecchymosis, Recurrent skin infections, Superficial d... ORPHA:542643
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Recurrent bacterial infections, Recurrent staphylococcal infections... OMIM:116920
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Pituitary Adenoma 4, Acth-Secreting
Bruising susceptibility, Ecchymosis, Striae distensae, Facial erythema, Poor wound healing, Hirsu... OMIM:219090
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Cer... ORPHA:2686
Pachyonychia Congenita 2
Palmoplantar hyperkeratosis, Nail dysplasia, Sparse eyebrow, Nail dystrophy, Sparse scalp hair, D... OMIM:167210
Kawasaki Disease
Leukocytosis, Arthritis, Cholecystitis, Myocarditis, Cervical lymphadenopathy, Abnormality of nai... ORPHA:2331
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma ORPHA:457
Psoriasis 2
Hyperkeratosis, Scaling skin, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Sweet Syndrome
Sterile abscess, Myositis, Leukocytosis, Acne inversa, Neutrophilia, Acute myeloid leukemia, Acne... ORPHA:3243
Relapsing Polychondritis
Chondritis, Chondritis of pinna, Pericarditis, Uveitis, Arthritis, Inflammatory abnormality of th... ORPHA:728
Hennekam-Beemer Syndrome
Mastocytosis, Pruritus, Pneumonia, Erythema, Urticaria, Telangiectasia of the skin, Skin vesicle ORPHA:2135
Boutonneuse Fever
Petechiae, Leukopenia, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Thromb... ORPHA:83313
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Osteomyelitis, Erythroid hyperplasia, Inflammatory abnorma... OMIM:609628
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Anemia, Lymphadenopathy, Arthritis, Skin... OMIM:607115
Calciphylaxis
Abnormality of skin physiology, Skin ulcer, Cutis marmorata ORPHA:280062
Dermatoosteolysis, Kirghizian Type
Abnormality of the nail, Dystrophic toenail, Osteoarthritis, Dystrophic fingernails, Keratitis, S... ORPHA:1657
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Sparse hair, Hyperkeratosis, Keratoconjunctivitis sicca, Skin ulcer, Abnormal fingerna... ORPHA:1806
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer, Lymphadenopathy ORPHA:424019
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Skin ulcer, Mucosal telangiectasiae ORPHA:220402
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Recurrent urinary tract infections, Recurrent herpe... ORPHA:331235
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Psoriasiform le... ORPHA:284426
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Recurrent skin infections, Colitis, Periodontitis, Abnormal toenail mor... ORPHA:2908
Juvenile Idiopathic Arthritis
Abnormality of the nail, Generalized hyperkeratosis, Uveitis, Splenomegaly, Nail pits, Psoriasifo... ORPHA:92
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis med... OMIM:615577
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Otitis media, Abnormal platelet morphology, Hypoplasia of... ORPHA:906
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Adult Syndrome
Abnormality of the nail, Absent nipple, Sparse scalp hair, Fine hair, Nail pits, Hypoplastic nipp... ORPHA:978
Trichothiodystrophy
Brittle hair, Aplasia/Hypoplasia of the nails, Prematurely aged appearance, Congenital exfoliativ... ORPHA:33364
Glutamine Deficiency, Congenital
Erythema OMIM:610015
Immunodeficiency 49
Eosinophilia, Cutis laxa, Inflammatory abnormality of the skin, Hirsutism, Lymphopenia OMIM:617237
Dermatomyositis
Abnormality of the nail, Pruritus, Arthritis, Erythema, Abnormal eosinophil morphology, Myocardit... ORPHA:221
Papillon-Lefèvre Syndrome
Generalized hirsutism, Abnormality of the nail, Palmoplantar keratoderma, Recurrent skin infectio... ORPHA:678
Localized Scleroderma
Patchy alopecia, Uveitis, Hashimoto thyroiditis, Erythema, Abnormality of skin adnexa morphology,... ORPHA:90289
Neonatal Lupus Erythematosus
Pancytopenia, Parakeratosis, Maculopapular exanthema, Cutaneous photosensitivity, Splenomegaly, N... ORPHA:398124
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Poikiloderma With Neutropenia
Recurrent otitis media, Blepharitis, Leukopenia, Recurrent pneumonia, Palmoplantar keratoderma, S... OMIM:604173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differentiation, D... OMIM:208900
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent upper resp... ORPHA:293978
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Cutis marmorata, Absent eyelashes, Plantar telangiectasia, Sparse body hair, Alopecia, Absent eye... ORPHA:69735
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Premature graying of hair, Recurrent otitis media, Erythema nodosum, Parotitis... OMIM:256040
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Acrocyanosis, Thrombocytopenia, Skin rash ORPHA:49566
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Hyperparakeratosis, Abnormality of the lymphatic system, Seborrheic d... ORPHA:276280
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Maculopapular exanthema, Endocarditis, Myo... ORPHA:31205
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Rec... OMIM:619632
Toxic Epidermal Necrolysis
Erythema, Acantholysis, Neutropenia, Anemia, Pancreatitis, Skin ulcer, Thrombocytopenia, Conjunct... ORPHA:537
Malakoplakia
Urinary bladder inflammation, Pruritus, Orchitis, Follicular hyperplasia, Inflammatory abnormalit... ORPHA:556
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormality of the nail, Parakeratosis, Erythema, Hyperkeratosis, Alopecia OMIM:308050
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Xeroderma Pigmentosum
Blepharitis, Erythema, Cutaneous photosensitivity, Conjunctival telangiectasia, Telangiectasia of... ORPHA:910
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Recurrent ear infections, Recurrent viral infections, Chronic or... ORPHA:221139
Aregenerative Anemia
Pancytopenia, Bruising susceptibility, Bone marrow hypocellularity, Decreased proportion of CD4-p... ORPHA:101096
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Sunct Syndrome
Flushing, Facial erythema ORPHA:57145
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplasia/Hypoplasia of the eyebrow, Erythema, Nail dysplasia, Facial erythema, Neutropen... ORPHA:221016
Corneodermatoosseous Syndrome
Abnormal fingernail morphology, Palmoplantar keratoderma, Erythema, Absent fingernail ORPHA:3194
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Anemia, Skin ulcer, Arthritis ORPHA:3287
Graft Versus Host Disease
Myositis, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Hemophagocytosis, Inflamm... ORPHA:39812
Bleeding Disorder, Platelet-Type, 21
Eczema, Thrombocytopenia, Psoriasiform dermatitis, Alopecia OMIM:617443
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy, Pericarditis, Anterior uveitis, Skin rash, Juvenile rheumatoid art... ORPHA:85414
Mixed Connective Tissue Disease
Myositis, Leukopenia, Arthritis, Gastritis, Splenomegaly, Myocarditis, Keratoconjunctivitis sicca... ORPHA:809
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Anemia of inadequate production, Splenomegaly, Persistence of h... ORPHA:231222
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the nail, Blepharitis, Uveitis, Thin eyebrow, Scleritis, Episcleritis, Keratitis, ... ORPHA:2273
Chondrodysplasia Punctata 2, X-Linked Dominant
Patchy alopecia, Sparse eyebrow, Erythroderma, Sparse eyelashes, Sparse hair OMIM:302960
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Trichoepithelioma, Skin ulcer, Cylindroma ORPHA:79493
Dyskeratosis Congenita
Premature graying of hair, Abnormal eyebrow morphology, Blepharitis, Palmoplantar keratoderma, Bo... ORPHA:1775
Adiposis Dolorosa
Bruising susceptibility, Recurrent skin infections, Arthritis, Sparse pubic hair, Telangiectasia ... ORPHA:36397
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormality of the nail, Dry skin, Inflammatory abnormality of the eye, Aplasia/Hypopl... ORPHA:238468
Primary Sjögren Syndrome
Optic neuritis, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, Arteritis... ORPHA:289390
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neu... OMIM:613179
Flynn-Aird Syndrome
Skin ulcer, Alopecia ORPHA:2047
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent bacterial infections, Enteroviral dermatomyositis syndrome, Rec... OMIM:307200
Chime Syndrome
Erythema, Fine hair, Hyperkeratosis, Skin ulcer, Acute leukemia, Sparse hair ORPHA:3474
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Urachal Cyst
Peritonitis, Erythema, Leukocytosis, Abscess ORPHA:488
Candidiasis, Familial, 8
Blepharitis, Seborrheic dermatitis OMIM:615527
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Erythroderma OMIM:617425
Stevens-Johnson Syndrome
Erythema, Acantholysis, Abnormality of neutrophils, Anemia, Pancreatitis, Thrombocytopenia, Conju... ORPHA:36426
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Punctate keratitis, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplas... OMIM:557000
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Facial erythema, Neutropenia, Anemia... ORPHA:221008
Angioedema, Hereditary, 1
Erythema, Angioedema OMIM:106100
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Splen... ORPHA:231226
Kid Syndrome
Progeroid facial appearance, Onychogryposis, Keratitis, Follicular hyperkeratosis, Conjunctivitis... ORPHA:477
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Skin ulcer ORPHA:352723
Blau Syndrome
Uveitis, Iritis, Erythema nodosum, Eczema, Synovitis, Nongranulomatous uveitis, Pericarditis, Ski... OMIM:186580
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Recurrent upper respiratory tract infections, Increased circulat... OMIM:600903
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Acne, Osteomyelitis, Synovitis, Inflam... ORPHA:77297
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Sparse hair, Hypochr... ORPHA:96123
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Recurr... OMIM:251260
Cushing Disease
Recurrent cutaneous fungal infections, Bruising susceptibility, Leukocytosis, Ecchymosis, Striae ... ORPHA:96253
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Adult Syndrome
Fair hair, Absent nipple, Cutaneous photosensitivity, Nail pits, Conjunctivitis, Eczema, Hypoplas... OMIM:103285
Free Sialic Acid Storage Disease
Skin ulcer, Splenomegaly ORPHA:834
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... ORPHA:183675
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Erythema ORPHA:99
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Osteomyelitis, Granulomatosis, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Osteomyelitis, Granulomatosis, ... OMIM:233710
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Leukopenia, Bone marrow hypocellularity, Thrombocyt... ORPHA:508542
Chronic Graft Versus Host Disease
Pancytopenia, Urinary bladder inflammation, Arthritis, Erythema, Onycholysis, Nail dystrophy, Bro... ORPHA:99921
Melas
Anemia, Erythema, Recurrent pancreatitis, Hypertrichosis ORPHA:550
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Pyoderma gangrenosum, Vaginitis, Abnormalit... ORPHA:2968
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Anemia, Panniculitis, Lymphadenop... OMIM:617591
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anemia of inadequate pro... ORPHA:231214
Immunodeficiency 22
Recurrent respiratory infections, Decreased proportion of CD4-positive helper T cells OMIM:615758
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells, Lymphadenopathy, Pannic... OMIM:617099
Infantile Myofibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2591
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Skin ulcer, Urticaria, Aplasia/Hypoplasia of the thymus ORPHA:2176
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Pruritus, Recurrent skin infections, Palmoplantar keratoderma, Follicular hy... ORPHA:158668
Good Syndrome
Sinusitis, Recurrent skin infections, Bronchiectasis, Abnormal leukocyte morphology, Anemia, Apla... ORPHA:169105
Werner Syndrome
Premature graying of hair, Pili torti, Prematurely aged appearance, White forelock, Telangiectasi... ORPHA:902
Focal Dermal Hypoplasia
Telangiectasia of the skin, Abnormality of the nail, Erythema, Alopecia ORPHA:2092
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Alopecia OMIM:210210
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased ... OMIM:617718
Giant Cell Arteritis
Mediastinal lymphadenopathy, Alopecia, Pericarditis, Skin ulcer, Arthritis ORPHA:397
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Leukocytosis, Neutrophilia, Splenomegaly, Molluscum contagiosu... OMIM:260920
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystrophy, Sparse eyelashes, Sparse scalp ... OMIM:614748
Catastrophic Antiphospholipid Syndrome
Cutis marmorata, Coombs-positive hemolytic anemia, Myocarditis, Microangiopathic hemolytic anemia... ORPHA:464343
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Plague
Lymphadenitis, Erythema nodosum, Arthritis, Inflammatory abnormality of the eye, Splenomegaly, In... ORPHA:707
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hypereosinop... ORPHA:508533
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis OMIM:167100
Glucagonoma
Subcutaneous lipoma, Pruritus, Acanthocytosis, Intermittent jaundice, Necrolytic migratory erythe... ORPHA:97280
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent infections, L... OMIM:300972
Zinc Deficiency, Transient Neonatal
Eczema, Alopecia OMIM:608118
Leprosy
Penetrating foot ulcers, Uveitis, Iritis, Sparse body hair, Loss of eyelashes, Acral ulceration, ... ORPHA:548
Melkersson-Rosenthal Syndrome
Cheilitis, Lymphadenopathy, Inflammatory abnormality of the skin ORPHA:2483
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Recurrent otitis media, Thick eyebrow, Facial erythema, Thoracic hypertrichosis, Scaling skin, He... OMIM:619503
Granulomatosis With Polyangiitis
Sinusitis, Uveitis, Episcleritis, Granulomatosis, Chronic otitis media, Keratitis, Skin ulcer, Co... OMIM:608710
Uremic Pruritus
Pruritus, Recurrent skin infections, Inflammatory abnormality of the skin, Generalized abnormalit... ORPHA:94059
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Coarse hair, Parakeratosis, Se... ORPHA:83617
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Neutropenia, Recurrent si... OMIM:607944
Multiple Endocrine Neoplasia Type 4
Esophagitis, Subcutaneous lipoma, Erythema, Thymoma ORPHA:276152
Systemic Sclerosis
Pruritus, Recurrent skin infections, Arthritis, Nail bed telangiectasia, Glomerulonephritis, Myoc... ORPHA:90291
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Bruising susceptibility, Leukocytosis, Ecchymosis, Striae ... ORPHA:99889
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Psoriasis-Related Juvenile Idiopathic Arthritis
Pruritus, Uveitis, Iritis, Psoriasiform lesion, Sacroiliac arthritis, Onycholysis, Nail pits, Iri... ORPHA:85436
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Seborrheic dermatitis, Thrombocytopenia OMIM:274000