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Gene: Irf2 MGI:96591

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Irf2 (0 diseases)
Human diseases predicted to be associated with Irf2 (577 diseases)

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	Matching phenotypes	Source
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry s...	ORPHA:2584
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology	ORPHA:222
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio...	OMIM:615897
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Peeling Skin Syndrome 3	Pruritus, Erythema, Abnormal hair morphology, White scaling skin	OMIM:616265
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt...	OMIM:233650
Bullous Impetigo	Recurrent bacterial skin infections, Pustule, Erythema, Abnormality of the lymphatic system, Sept...	ORPHA:36237
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity	ORPHA:33314
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin	OMIM:617571
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphadenopathy	OMIM:254400
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci...	ORPHA:90156
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Immunodeficiency 62	Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ...	OMIM:618459
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Vibratory Urticaria	Urticaria, Facial erythema, Flushing	OMIM:125630
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin	ORPHA:454
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media, Recurrent infections	OMIM:616941
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Hype...	ORPHA:317
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura	ORPHA:889
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis	OMIM:617526
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections...	ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac...	ORPHA:169079
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Sézary Syndrome	Alopecia, Pruritus, Splenomegaly, Dry skin, Lymphadenopathy, Palmoplantar keratoderma, Nail dystr...	ORPHA:3162
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Angioedema, Erythema, Darier's sig...	ORPHA:79455
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Colitis	OMIM:219095
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ...	OMIM:618987
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa, Abnormal lymph node morphology	ORPHA:33111
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Lymphopenia, Myositis, Skin rash, Cutis marmorata, Follicular hype...	OMIM:615934
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photosensitivity	ORPHA:312
Atrophoderma Vermiculata	Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Diffuse Cutaneous Mastocytosis	Pruritus, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, Dermatographic ur...	ORPHA:79456
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Rosaï-Dorfman Disease	Erythema, Anemia, Lymphadenopathy	ORPHA:158014
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Hereditary Progressive Mucinous Histiocytosis	Pruritus, Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Omenn Syndrome	Alopecia, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Dry skin, L...	ORPHA:39041
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma...	ORPHA:542592
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma	OMIM:270300
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections	OMIM:606445
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythem...	OMIM:614204
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Angular cheilitis,...	ORPHA:495
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Fragile nails	OMIM:248300
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin...	OMIM:607602
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan...	ORPHA:158673
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu...	ORPHA:277
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Acral Peeling Skin Syndrome	Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin	ORPHA:263534
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz...	OMIM:256500
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis	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, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno...	ORPHA:2897
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Lymp...	ORPHA:139402
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Epidermolytic Hyperkeratosis 1	Scaling skin, Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Primary Erythromelalgia	Pruritus, Leukemia, Erythema	ORPHA:90026
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Skin ulcer, Decreased circu...	ORPHA:33355
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, T lymphocyto...	OMIM:608971
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Maculopapular Cutaneous Mastocytosis	Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu...	ORPHA:79457
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Dermatographic urticaria, Follicular hyperkeratosis, Erythroderma, A...	OMIM:608649
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Keratolytic Winter Erythema	Erythema	OMIM:148370
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Sparse hair, Erythroderma, Chronic otitis medi...	ORPHA:313
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Low ant...	ORPHA:742
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Urticaria, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Nail dystrophy, ...	ORPHA:100976
Erythema Of Acral Regions	Erythema	OMIM:227000
Immunodeficiency 19	Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis...	OMIM:615617
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria, Recu...	OMIM:614468
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias...	OMIM:212050
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of the tonsil...	ORPHA:229717
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Recurrent pneumonia, Erythema, Chronic mucocutaneous candidiasis, Eczema...	OMIM:147060
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop...	OMIM:618986
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
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
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:620148
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scal...	OMIM:604777
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the ski...	OMIM:620321
Vulvovaginal Gingival Syndrome	Pruritus, Ridged nail, Parakeratosis, Erythema	ORPHA:83453
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp...	OMIM:618944
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
Adult-Onset Still Disease	Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Pruritus, Myocarditis, Spleno...	ORPHA:829
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Recurrent viral i...	OMIM:300853
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H...	OMIM:604416
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Dermatitis Herpetiformis	Eczema, Microcytic anemia, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Erythroderma, Hypertric...	OMIM:609165
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:79278
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Recurrent...	OMIM:620282
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,...	ORPHA:69126
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon...	OMIM:601457
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased proport...	OMIM:615518
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis	ORPHA:231
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Recurrent infections, Increased circulating ...	OMIM:618982
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf...	OMIM:614493
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Pallor, Decreased proportion of CD3-positive T...	ORPHA:331206
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis, Eczema	ORPHA:703
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Lymphopenia, Decreased circulating total IgM, T lymphocytopenia...	OMIM:619510
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infections, T lymphocytopen...	ORPHA:572
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Pyoderma ga...	OMIM:616576
Sydenham Chorea	Septic arthritis, Erythema, Endocarditis	ORPHA:306731
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis	ORPHA:79099
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos...	OMIM:612281
Protoporphyria, Erythropoietic, 1	Pruritus, Hemolytic anemia, Erythema, Eczema	OMIM:177000
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Darier's sign, Urtic...	ORPHA:98848
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph...	OMIM:618108
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
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h...	ORPHA:90368
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Cutaneous photos...	ORPHA:330064
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Congenital Lethal Erythroderma	Urticaria, Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Immunodeficiency 15B	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr...	OMIM:615592
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Petechiae, Splenomegaly, Thrombocytopenia, Jaundice, Neutrope...	ORPHA:540
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Thin nail, Short nail, Sparse e...	OMIM:257980
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa, Anemia	OMIM:608068
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm...	OMIM:242300
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymp...	OMIM:603554
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Increased proportion of exhausted T cells, Facial erythema	OMIM:618307
Proteasome-Associated Autoinflammatory Syndrome 4	Myositis, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy, Panniculitis	OMIM:619183
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent b...	OMIM:619164
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormality of the nail	ORPHA:79394
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Broad nail, ...	ORPHA:1334
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthritis, R...	OMIM:611762
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho...	ORPHA:525
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymphatic leukem...	OMIM:616005
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Pruritus, Urticaria, Angioedema, Erythema	ORPHA:100057
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Erythema, Lymphadenopathy, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acro...	ORPHA:343
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Erythema	OMIM:613943
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Familial Cold Urticaria	Pruritus, Erythema, Urticaria, Arthritis, Conjunctivitis	ORPHA:47045
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality...	ORPHA:47
Ifap Syndrome 2	Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ...	OMIM:619016
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Dry skin, Ectodermal dysplasia,...	ORPHA:2890
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Telangiectasia, Hyperkeratosis, Keratoconjunctivitis sicc...	OMIM:601675
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Decreased proportion...	OMIM:619126
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Stoma...	OMIM:246400
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, B lymphocytopenia, Splenomegaly	OMIM:619437
Lig4 Syndrome	Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythema, Low anterior hairline, Acute le...	ORPHA:99812
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Skin ulcer, Lymphad...	ORPHA:507
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating...	OMIM:614069
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Complex Regional Pain Syndrome	Dry skin, Abnormality of hair growth, Slow-growing nails, Erythema	ORPHA:83452
Prolidase Deficiency	Petechiae, Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Crusting erythematous der...	OMIM:170100
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Palmoplantar keratoderma...	OMIM:242100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Fixed Drug Eruption	Stomatitis, Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin	ORPHA:293812
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Kikuchi-Fujimoto Disease	Alopecia, Generalized lymphadenopathy, Skin rash, Pruritus, Myocarditis, Pustule, Cervical lympha...	ORPHA:50918
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,...	ORPHA:293173
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Acantholysis	ORPHA:455
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati...	OMIM:243700
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Urticaria, Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ...	ORPHA:659
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb...	ORPHA:1010
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Cutis marmorat...	ORPHA:727
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Polyarteritis Nodosa	Pericarditis, Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma	OMIM:615022
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule, Rheumatoid arthritis	ORPHA:48377
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count, Increa...	ORPHA:98813
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenom...	OMIM:602450
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cell...	OMIM:614878
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se...	OMIM:300755
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Erythema, Dry skin, Scaling skin	OMIM:614457
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Angioedema, Erythema, Vascular skin abnormality, Skin...	ORPHA:761
Schnitzler Syndrome	Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthritis, Anemia	ORPHA:37748
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Nodular Non-Suppurative Panniculitis	Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Cryoglobulinemic Vasculitis	Viral hepatitis, Cutis marmorata, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Arthriti...	ORPHA:91138
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle...	ORPHA:2500
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato...	OMIM:259100
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Copper Deficiency, Familial Benign	Curly hair, Early balding, Anemia, Seborrheic dermatitis	OMIM:121270
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne...	OMIM:618282
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Chronic Granulomatous Disease	Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Mediastinal lymphadenopathy, Spleno...	ORPHA:379
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctivitis, Hemophagocy...	OMIM:603552
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Decreased p...	OMIM:618048
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Abscess, E...	OMIM:615816
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma	OMIM:618840
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn...	ORPHA:454831
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Aicardi-Goutieres Syndrome 1	Chilblains, Splenomegaly, Thrombocytopenia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, ...	OMIM:225750
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Erythema, Palmoplantar keratoderma	OMIM:606545
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, Leukocytosis, A...	OMIM:612840
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Ameloonychohypohidrotic Syndrome	Dry skin, Onycholysis, Seborrheic dermatitis	OMIM:104570
Porphyria Cutanea Tarda, Type I	Fragile skin, Eczema, Hypertrichosis	OMIM:176090
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Leukocytosis, Angioedema...	ORPHA:3260
Immunodeficiency 68	Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve...	ORPHA:48104
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, Skin ulcer, Pa...	ORPHA:848
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho...	ORPHA:79124
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Splenomegaly, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin	OMIM:201100
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Alopecia, Telangiectasia of the skin, Pruritus, Erythema, Skin...	ORPHA:93672
Incontinentia Pigmenti	Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Eosinophilia, Keratiti...	ORPHA:464
Epidermodysplasia Verruciformis	Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Chikungunya	Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Cervical lymphadenopathy, Crustin...	ORPHA:324625
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ...	OMIM:618394
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Abnormal hair morphology, Paronychia, S...	ORPHA:2314
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Recurrent infections, B lymphocytopenia, ...	OMIM:301078
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails	OMIM:242150
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up...	OMIM:616100
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Inflammation of the large int...	OMIM:615895
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Increased circulating ...	ORPHA:397596
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Erythroderma	OMIM:615023
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Splenomegaly, ...	OMIM:620210
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Lymphadenopathy,...	OMIM:615688
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur...	OMIM:619752
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Buerger Disease	Acrocyanosis, Skin ulcer	ORPHA:36258
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosinophilia, Foll...	OMIM:603909
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Ollier Disease	Lymphangioma, Skin ulcer, Anemia	ORPHA:296
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion,...	OMIM:614700
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Snakebite Envenomation	Ecchymosis, Angioedema, Erythema, Thrombocytopenia	ORPHA:449285
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Arthritis, Keratoconjuncti...	ORPHA:779
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ...	OMIM:619652
Familial Tumoral Calcinosis	Splenomegaly, Erythema, Skin rash	ORPHA:53715
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Erythema, Endocarditis, Arthritis, Pallor	ORPHA:3099
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature grayin...	ORPHA:79477
Bone Marrow Failure Syndrome 4	Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia	OMIM:618116
Immunodeficiency 22	Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to...	OMIM:615758
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunc...	ORPHA:2907
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom...	OMIM:613011
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Erythema, Lymphaden...	ORPHA:342
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis	ORPHA:36386
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Subcutaneous hemorrhage, Skin ulcer, Purpura	ORPHA:743
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ...	ORPHA:555905
Immunodeficiency 40	Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell p...	OMIM:616433
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Immunodeficiency 33	Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level	OMIM:300636
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Cervical lymphadenopathy, Leukoc...	ORPHA:2331
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis	OMIM:253260
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Poor wound healing, Facial erythema, Ecchymosis, Bruising susceptibility, Hirsu...	OMIM:219090
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Erythem...	ORPHA:420741
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Erythema, Anemia, Palmoplantar keratoderma, Nail dystrophy, ...	ORPHA:79396
Tempi Syndrome	Telangiectasia, Increased hematocrit, Polycythemia, Facial erythema	ORPHA:284227
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Erythema Elevatum Diutinum	Skin vesicle, Skin rash, Vasculitis in the skin	ORPHA:90000
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer, Lymphadenopathy	ORPHA:424019
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Harlequin Ichthyosis	Hyperkeratosis, Erythroderma	ORPHA:457
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Dry skin, Lymphadenopathy, Neutro...	OMIM:617827
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Fountain Syndrome	Synophrys, Erythema, Cutis marmorata, Thick eyebrow	ORPHA:3219
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca...	ORPHA:1806
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Skin ulcer, Mucosal telangiectasiae	ORPHA:220402
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Mastocytosis, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:2135
Relapsing Polychondritis	Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa...	ORPHA:728
Calciphylaxis	Cutis marmorata, Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophi...	ORPHA:1657
Gcgr-Related Hyperglucagonemia	Stomatitis, Necrolytic migratory erythema	ORPHA:438274
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Cutis laxa, T lymphocyt...	OMIM:617237
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ...	ORPHA:978
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Absent microvilli on...	OMIM:301000
Glutamine Deficiency, Congenital	Erythema	OMIM:610015
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti...	ORPHA:2908
Acquired Purpura Fulminans	Skin rash, Pyoderma gangrenosum, Macular purpura, Acrocyanosis, Thrombocytopenia	ORPHA:49566
Selective Igm Deficiency	Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio...	ORPHA:331235
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Split nail, Ec...	ORPHA:33364
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin,...	ORPHA:221
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Erythema, Uveitis, Arthritis, Patchy alopecia, Esopha...	ORPHA:90289
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Alopecia, P...	ORPHA:37042
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Sparse sca...	OMIM:308205
Toxic Epidermal Necrolysis	Acantholysis, Thrombocytopenia, Erythema, Skin ulcer, Conjunctivitis, Neutropenia, Pancreatitis, ...	ORPHA:537
Free Sialic Acid Storage Disease	Splenomegaly, Skin ulcer	ORPHA:834
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re...	ORPHA:436159
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu...	OMIM:615966
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Telangiectasia of the skin...	ORPHA:1775
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Keratitis, Erythema, Dry skin,...	ORPHA:910
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Pruritus, Orchitis, Urin...	ORPHA:556
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Sparse axillary hair, Microcytic anemia, Erythema nodosum, Splenomegaly, Thrombocyt...	OMIM:256040
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tract infections, Recurre...	OMIM:615577
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja...	ORPHA:39812
Takayasu Arteritis	Increased inflammatory response, Skin ulcer, Arthritis, Inflammatory abnormality of the eye, Anemia	ORPHA:3287
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Aplastic anemia, Alopecia totalis, Erythema, Facial erythema, Anemia, Spa...	ORPHA:221016
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ...	ORPHA:221139
Urachal Cyst	Leukocytosis, Peritonitis, Erythema, Abscess	ORPHA:488
Bloom Syndrome	Elevated hemoglobin A1c, Bronchiectasis, Facial erythema, Cutaneous photosensitivity, Leukemia, M...	OMIM:210900
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer	ORPHA:79493
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Abnormality of the lymphatic system, Telangiectasia of the skin, Seborrheic d...	ORPHA:276280
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Erythema, Skin rash	OMIM:618321
Pachyonychia Congenita 2	Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Corneodermatoosseous Syndrome	Erythema, Palmoplantar keratoderma, Abnormal fingernail morphology, Absent fingernail	ORPHA:3194
Werner Syndrome	Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Abnormal hair whorl, ...	ORPHA:902
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Recurrent bronchitis, Acute lymphoblastic leukemia,...	OMIM:208900
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop...	OMIM:613179
Sunct Syndrome	Flushing, Facial erythema	ORPHA:57145
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Chime Syndrome	Erythema, Skin ulcer, Acute leukemia, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:3474
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair	OMIM:302960
Stevens-Johnson Syndrome	Abnormality of neutrophils, Acantholysis, Thrombocytopenia, Erythema, Conjunctivitis, Pancreatiti...	ORPHA:36426
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Pallor, Neutr...	ORPHA:101096
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Aplasia/Hypoplasia of the eyebrow, ...	ORPHA:238468
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro...	OMIM:557000
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Aplastic anemia, Alopecia totalis, Facial erythema, Anemia, Sparse or abs...	ORPHA:221008
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Erythema, Hyperkeratosis, Small nail, Orthokeratosis	OMIM:308050
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar...	ORPHA:293978
Cushing Disease	Plethora, Sparse scalp hair, Purpura, Striae distensae, Acne, Dorsocervical fat pad, Poor wound h...	ORPHA:96253
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Erythroderma	OMIM:617425
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemia, Hepatospl...	ORPHA:96123
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Skin ulcer	ORPHA:352723
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Recurrent viral i...	OMIM:242840
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Skin ulcer,...	OMIM:186580
Angioedema, Hereditary, 1	Angioedema, Erythema	OMIM:106100
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule...	ORPHA:77297
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni...	OMIM:233710
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Dry skin, Leuk...	ORPHA:508542
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Pancytopenia, Poor wound healing, Urinary bladder inflammation, Erythema, Br...	ORPHA:99921
Melas	Erythema, Recurrent pancreatitis, Anemia, Hypertrichosis	ORPHA:550
Catastrophic Antiphospholipid Syndrome	Cutis marmorata, Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangio...	ORPHA:464343
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ...	OMIM:620133
Infantile Myofibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2591
Giant Cell Arteritis	Alopecia, Pericarditis, Mediastinal lymphadenopathy, Skin ulcer, Arthritis	ORPHA:397
Infantile Systemic Hyalinosis	Urticaria, Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus, Skin ulcer	ORPHA:2176
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Focal Dermal Hypoplasia	Alopecia, Erythema, Telangiectasia of the skin, Abnormality of the nail	ORPHA:2092
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocyt...	OMIM:251260
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocolitis, Endocarditi...	ORPHA:707
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Synophrys, Facial erythema, Scaling skin, Chronic otitis media, Thoracic hypertrichosis, Medial f...	OMIM:619503
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur...	ORPHA:508533
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Sympathetic Ophthalmia	Alopecia, Erythema, Posterior uveitis, Poliosis	ORPHA:79098
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir...	OMIM:300972
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr...	OMIM:614748
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Osteomyelitis, Poor wound healing, Keratitis, Nail dystrophy, Nail dysplasia, ...	OMIM:256800
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ...	ORPHA:548
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Recurrent i...	OMIM:619381
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Granulomatosis, Conjunctivitis, Chronic ...	OMIM:608710
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recur...	ORPHA:391487
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Nail bed te...	ORPHA:90291
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Sparse scalp hair, Purpura, Striae distensae, Acne, Dorsocervical fat pad, Poor wound h...	ORPHA:99889
Glucagonoma	Skin rash, Acanthocytosis, Pruritus, Necrolytic migratory erythema, Intermittent jaundice, Normoc...	ORPHA:97280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia,...	ORPHA:83617
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails	OMIM:245660
Simple Cryoglobulinemia	Purpura, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Parapr...	ORPHA:91139
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ...	ORPHA:94059
Alg12-Cdg	Recurrent respiratory infections, Redundant skin, Partial absence of specific antibody response t...	ORPHA:79324
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Telangiectasia of the skin, Skin ulcer	ORPHA:220393
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus...	OMIM:607944
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis	OMIM:301072
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Pan...	ORPHA:2526
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ...	OMIM:620005
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Multiple Endocrine Neoplasia Type 4	Thymoma, Erythema, Subcutaneous lipoma, Esophagitis	ORPHA:276152
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Warburg-Cinotti Syndrome	Poor wound healing, Erythema, Follicular hyperkeratosis, Sterile abscess	OMIM:618175
Adenocarcinoma Of The Anal Canal	Skin ulcer, Lymphadenopathy	ORPHA:424016
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Skin ulcer, Inflammatory abn...	ORPHA:900
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
22Q11.2 Deletion Syndrome	Acne, Abnormality of the tonsils, Seborrheic dermatitis, Splenomegaly, Arthritis, Hypoplasia of t...	ORPHA:567
Mednik Syndrome	Erythema	OMIM:609313
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan...	ORPHA:79474
Thrombocytopenia 1	Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility, C...	OMIM:313900
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho...	ORPHA:95455
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior hairline, Skin ulcer, Coars...	ORPHA:955
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Vipoma	Normochromic anemia, Erythema, Subcutaneous lipoma, Intermittent jaundice	ORPHA:97282
Scorpion Envenomation	Myocarditis, Acute pancreatitis, Erythema, Purpura	ORPHA:466677
Zollinger-Ellison Syndrome	Jaundice, Erythema, Esophagitis	ORPHA:913
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia, Recurrent viral infections	ORPHA:2959
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Thick eyebrow, Seborrheic dermatitis	ORPHA:369950
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Granuloma, Infectious encephal...	ORPHA:68
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Poor wound healing, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Skin...	ORPHA:2072
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Acral ulceration	OMIM:201300
Parkes Weber Syndrome	Prominent superficial blood vessels, Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology	ORPHA:90307
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Microphthalmia With Linear Skin Defects Syndrome	Abnormal eyelash morphology, Erythema, Abnormality of the nail	ORPHA:2556
Digeorge Syndrome	Acne, Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Abnormal thymus...	OMIM:188400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Seborrheic dermatitis	OMIM:300868
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Highly arched eyebrow, Synophrys, Long lower eyelashes, Palmoplantar erythema	OMIM:612474
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cheilitis, Skin ulcer, Fine hair, Anemia, Arthritis, Periodontitis, Chronic ot...	ORPHA:534
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Baller-Gerold Syndrome	Erythema	OMIM:218600
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Jaundice, Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration, Pr...	OMIM:256810
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hypertrichosis	ORPHA:573278

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Irf2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Irf2.

No publications found that use IMPC mice or data for Irf2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Irf2^{tm278213(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Irf2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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