Acne Inversa, Familial, 3 |
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Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Psoriasis 2 |
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Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Mental Retardation And Psoriasis |
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Psoriasiform dermatitis |
OMIM:309480 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
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Psoriasiform dermatitis |
ORPHA:3052 |
Psoriasis 1, Susceptibility To |
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Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Psoriasis 15, Pustular, Susceptibility To |
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Psoriasiform dermatitis |
OMIM:616106 |
Mycosis Fungoides |
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Pruritus, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
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Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 51 |
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Recurrent skin infections, Eczema, Pneumonia, Pustule, Recurrent cutaneous fungal infections, Chr... |
OMIM:613953 |
Ichthyosis, Lamellar, Autosomal Dominant |
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Pruritus, Hyperkeratosis |
OMIM:146750 |
Linear Atrophoderma Of Moulin |
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Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
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Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Pemphigus Foliaceus |
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Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Bullous Pemphigoid |
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Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Psoriasis 14, Pustular |
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Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis |
OMIM:614204 |
Benign Cephalic Histiocytosis |
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Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
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Psoriasiform dermatitis, Acne, Skin rash, Osteomyelitis, Pruritus, Arthritis, Palmoplantar pustul... |
ORPHA:324964 |
Bleeding Disorder, Platelet-Type, 21 |
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Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
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Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Epidermolytic Hyperkeratosis 2 |
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Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency, Common Variable, 14 |
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Psoriasiform dermatitis, Recurrent sinusitis |
OMIM:617765 |
Spondyloarthropathy, Susceptibility To, 1 |
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Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Atopic dermatitis, Bronchiectasis... |
ORPHA:436159 |
Systemic Lupus Erythematosus 16 |
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Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
OMIM:616100 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Sapho Syndrome |
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Psoriasiform dermatitis, Acne, Skin rash, Recurrent skin infections, Osteomyelitis, Pustule, Syno... |
ORPHA:793 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Cernunnos-Xlf Deficiency |
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Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,... |
ORPHA:169079 |
Hashimoto Thyroiditis |
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Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Immunodeficiency, Common Variable, 10 |
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Recurrent otitis media, Recurrent sinusitis, Psoriasiform dermatitis, Recurrent pneumonia |
OMIM:615577 |
Kid Syndrome |
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Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Immunodeficiency 15A |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... |
ORPHA:37042 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Intellectual Developmental Disorder, Fra12A Type |
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Hyperkeratosis, Erythroderma |
OMIM:136630 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Chronic oral candidiasis |
OMIM:606367 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Intermediate Uveitis |
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Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis |
ORPHA:279914 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
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Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Neonatal Inflammatory Skin And Bowel Disease |
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Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Blepharitis |
ORPHA:294023 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
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Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Lig4 Syndrome |
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Psoriasiform dermatitis, Chronic sinusitis |
OMIM:606593 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Eosinophilopenia |
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Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Immunodeficiency 49 |
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Psoriasiform dermatitis |
OMIM:617237 |
Spinocerebellar Ataxia Type 42 |
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Psoriasiform dermatitis |
ORPHA:458803 |
Insulin Autoimmune Syndrome |
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Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Immunoglobulin A Deficiency 1 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Interface hepatitis, Psoriasiform dermatitis, Enterocolitis |
OMIM:243150 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, T lym... |
ORPHA:277 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Peeling Skin Syndrome 6 |
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Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis |
OMIM:618084 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
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Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Arthritis, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Chronic oral candidiasis |
ORPHA:221139 |
Immunodeficiency 97 With Autoinflammation |
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Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... |
OMIM:619802 |
Igg4-Related Retroperitoneal Fibrosis |
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Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Membranous nephropathy... |
ORPHA:49041 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Psoriasiform dermatitis, Recurrent pneumonia, Thyroiditis, Bronchiectasis, Recurrent sinusitis, R... |
ORPHA:293978 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
H Syndrome |
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Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis |
ORPHA:168569 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Autoimmunity, Abnormality of tumor necrosis fa... |
ORPHA:158061 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Increase... |
OMIM:616005 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Increased circulating IgG level, Decreas... |
OMIM:618495 |
Lymphoproliferative Syndrome 1 |
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Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Psoriasiform dermatitis, Hashimoto thyroiditis, Hepatitis |
ORPHA:436252 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Limb-Mammary Syndrome |
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Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis |
ORPHA:69085 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Psoriasiform dermatitis |
ORPHA:2237 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Autoimmunity, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Juve... |
ORPHA:275 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Selective Igm Deficiency |
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Decreased proportion of CD4-positive T cells, Autoimmunity, Hashimoto thyroiditis, Autoimmune thr... |
ORPHA:331235 |
Pemphigus Erythematosus |
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Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Autoimmune Lymphoproliferative Syndrome |
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Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... |
ORPHA:3261 |
Immunodeficiency 22 |
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Autoimmunity, Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decrea... |
OMIM:615758 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Leukocytosis,... |
ORPHA:544482 |