Lymphoblastic Transformation, Intrinsic Defect In |
|
Chronic mucocutaneous candidiasis |
OMIM:247450 |
Lymphoblastic Transformation, Inhibition Of |
|
Chronic mucocutaneous candidiasis |
OMIM:247430 |
Lymphokine Deficiency |
|
Chronic mucocutaneous candidiasis |
OMIM:247650 |
Candidiasis, Familial, 6 |
|
Chronic mucocutaneous candidiasis |
OMIM:613956 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Increased circulating antibo... |
ORPHA:169160 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Palmoplantar hyperhidrosis, Erythroderma |
OMIM:270300 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased ... |
OMIM:619510 |
Immunodeficiency 15A |
|
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... |
OMIM:618204 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive |
ORPHA:79394 |
Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Atopic dermatitis, Decreased circulat... |
OMIM:618944 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumoni... |
OMIM:300400 |
Netherton Syndrome |
|
Failure to thrive, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating Ig... |
OMIM:256500 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma, ... |
OMIM:304790 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Increased circulating IgE level, D... |
OMIM:606367 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive |
ORPHA:1954 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Increased circulating antibo... |
ORPHA:90280 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis |
OMIM:221700 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... |
OMIM:618108 |
Elastoderma |
|
Erysipelas, Eczema |
ORPHA:228240 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti... |
ORPHA:139402 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Increased circulating IgE level,... |
OMIM:617241 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l... |
ORPHA:277 |
Sézary Syndrome |
|
Pruritus, Abnormal immunoglobulin level, Erythroderma |
ORPHA:3162 |
Ichthyosis With Confetti |
|
Pruritus, Decreased body weight, Erythroderma |
OMIM:609165 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... |
OMIM:300635 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chroni... |
ORPHA:98813 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Reduced natural killer cell activity, Decreased circulating a... |
ORPHA:540 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Increased circul... |
OMIM:618282 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
Omenn Syndrome |
|
Pneumonia, Pruritus, Thyroiditis, Erythroderma, Failure to thrive, Hypothyroidism |
ORPHA:39041 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... |
OMIM:619374 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias... |
ORPHA:275 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Lamellar Ichthyosis |
|
Chronic otitis media, Pruritus, Erythroderma |
ORPHA:313 |
Generalized Pustular Psoriasis |
|
Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypohidrosis, Erythroderma |
OMIM:615023 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis, H... |
ORPHA:48377 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis |
OMIM:167100 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Bathing Suit Ichthyosis |
|
Hypohidrosis, Erythroderma |
ORPHA:100976 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Decreased cir... |
OMIM:616576 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Hypohidrosis, Erythroderma |
OMIM:612281 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Conjunctivitis, Erythroderma |
OMIM:242150 |
Harlequin Ichthyosis |
|
Erythroderma |
ORPHA:457 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Erythroderma |
OMIM:609180 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Decreased circulating IgG level, Small for gestational age, Erythroderma |
OMIM:601675 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... |
ORPHA:436159 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... |
OMIM:616100 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:79456 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Erythroderma |
OMIM:617425 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss, Arthritis... |
OMIM:617321 |
Immunodeficiency 96 |
|
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... |
OMIM:619774 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Biotinidase Deficiency |
|
Skin rash, Conjunctivitis, Recurrent skin infections, Seborrheic dermatitis |
OMIM:253260 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Erythroderma, Failure to thrive |
OMIM:615895 |
Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis |
OMIM:246400 |
Omenn Syndrome |
|
Failure to thrive, Pneumonia, Erythroderma |
OMIM:603554 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Hyperhidrosis, Arthritis, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:259100 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic dermatitis, Hy... |
ORPHA:2796 |
Majeed Syndrome |
|
Failure to thrive, Inflammatory abnormality of the skin, Osteomyelitis, Skin rash |
OMIM:609628 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Erythroderma |
OMIM:302960 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Hypothyroidism, Psoriasiform dermatitis, Hyperth... |
ORPHA:37042 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Synovitis, Weight l... |
ORPHA:77297 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis... |
ORPHA:3260 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Failure to thrive in infancy, Partial IgA deficiency, Pustule, Acute otitis media, Rec... |
ORPHA:35078 |
Transketolase Deficiency |
|
Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Seborrheic dermatitis |
OMIM:210210 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Keratoconjunctivitis sicca, Conjunctivitis, Panhypog... |
ORPHA:33364 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pruritus,... |
ORPHA:83617 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Obesity, Failure to thrive, Eczema, Seborrheic dermatitis |
ORPHA:369950 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Acne, Impaired T cell function, Seborrheic dermatitis, Obesi... |
ORPHA:567 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Monosomy 22 |
|
Hyperhidrosis, Seborrheic dermatitis |
ORPHA:96123 |
Thrombocytopenia-Absent Radius Syndrome |
|
Decreased circulating antibody level, Seborrheic dermatitis |
OMIM:274000 |
Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections |
ORPHA:94059 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis |
ORPHA:276280 |
Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Recurrent pneumonia, Obesity, Recurrent si... |
OMIM:188400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Seborrheic dermatitis |
OMIM:300868 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Increased circulating IgG4 level, Lymphadenit... |
ORPHA:449395 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent skin infections, Eczema, Keratitis, Hypohidrosis, Erythroderma |
OMIM:308205 |