se-atlas

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that this support group organisation focuses on:
22q11.2 deletion syndrome Absent thumb-short stature-immunodeficiency syndrome Activated PI3K-delta syndrome Agammaglobulinemia Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Alymphoid cystic thymic dysgenesis Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Ataxia-telangiectasia Ataxia-telangiectasia-like disorder Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Autoimmune polyendocrinopathy type 1 Autoinflammatory syndrome with immune deficiency Autosomal agammaglobulinemia Autosomal dominant hyper-IgE syndrome Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant severe congenital neutropenia Autosomal recessive lymphoproliferative disease Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Barth syndrome Blau syndrome Bloom syndrome CINCA syndrome Cartilage-hair hypoplasia Cernunnos-XLF deficiency Chronic granulomatous disease Chronic mucocutaneous candidiasis Chédiak-Higashi syndrome Cohen syndrome Combined T and B cell immunodeficiency Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency with faciooculoskeletal anomalies Combined immunodeficiency with skin granulomas Common variable immunodeficiency Complement component 3 deficiency Congenital neutropenia-myelofibrosis-nephromegaly syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Constitutional neutropenia Constitutional neutropenia with extra-hematopoietic manifestations Cryopyrin-associated periodic syndrome Cryptosporidiosis-chronic cholangitis-liver disease syndrome Cyclic neutropenia DNA repair defect other than combined T-cell and B-cell immunodeficiencies Deficiency in anterior pituitary function-variable immunodeficiency syndrome Dianzani autoimmune lymphoproliferative disease Dyskeratosis congenita Epidermodysplasia verruciformis FADD-related immunodeficiency Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Familial Mediterranean fever Familial cold urticaria Familial hemophagocytic lymphohistiocytosis Familial isolated congenital asplenia Functional neutrophil defect Genetic susceptibility to infections due to particular pathogens Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Griscelli disease type 2 Hepatic veno-occlusive disease-immunodeficiency syndrome Hermansky-Pudlak syndrome with neutropenia Herpes simplex virus encephalitis Hoyeraal-Hreidarsson syndrome Hyper-IgE syndrome Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections Hyperimmunoglobulinemia D with periodic fever Hyperzincemia and hypercalprotectinemia Hypohidrotic ectodermal dysplasia with immunodeficiency ICF syndrome Idiopathic CD4 lymphocytopenia Immune dysregulation disease with immunodeficiency Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immuno-osseous dysplasia Immunodeficiency by defective expression of HLA class 1 Immunodeficiency by defective expression of HLA class 2 Immunodeficiency due to CD25 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to absence of thymus Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency predominantly affecting antibody production Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Immunodeficiency with factor H anomaly Immunodeficiency with factor I anomaly Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunoglobulin heavy chain deficiency Isolated agammaglobulinemia Kostmann syndrome LIG4 syndrome Laron syndrome with immunodeficiency Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Lichtenstein syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Lymphoproliferative syndrome Majeed syndrome Mendelian susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Monocytopenia with susceptibility to infections Muckle-Wells syndrome Myeloperoxidase deficiency Neutropenia-monocytopenia-deafness syndrome Neutrophil immunodeficiency syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder Omenn syndrome Osteopetrosis-hypogammaglobulinemia syndrome Other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndromes due to defects in innate immunity PFAPA syndrome PLCG2-associated antibody deficiency and immune dysregulation Pancytopenia due to IKZF1 mutations Papillon-Lefèvre syndrome Pearson syndrome Poikiloderma with neutropenia Primary hemophagocytic lymphohistiocytosis Primary immunodeficiency Primary immunodeficiency due to a defect in adaptive immunity Primary immunodeficiency due to a defect in innate immunity Primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Properdin deficiency Purine nucleoside phosphorylase deficiency Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Pyogenic bacterial infections due to MyD88 deficiency RAS-associated autoimmune leukoproliferative disease Rare immune disease Recurrent Neisseria infections due to factor D deficiency Recurrent infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Reticular dysgenesis Roifman syndrome Say-Barber-Miller syndrome Schimke immuno-osseous dysplasia Selective IgM deficiency Severe combined immunodeficiency Severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe congenital neutropenia Severe dermatitis-multiple allergies-metabolic wasting syndrome Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short-limb skeletal dysplasia with severe combined immunodeficiency Shwachman-Diamond syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Spondyloenchondrodysplasia Sterile multifocal osteomyelitis with periostitis and pustulosis Susceptibility to infection due to TYK2 deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to viral and mycobacterial infections Syndrome with combined immunodeficiency Syndromic agammaglobulinemia Syndromic multisystem autoimmune disease due to Itch deficiency T+ B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B- severe combined immunodeficiency T-cell immunodeficiency with epidermodysplasia verruciformis TCR-alpha-beta-positive T-cell deficiency Thymic aplasia Transient hypogammaglobulinemia of infancy Tumor necrosis factor receptor 1 associated periodic syndrome Vici syndrome WHIM syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper-IgM syndrome X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunoneurologic disorder X-linked lymphoproliferative disease X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked severe congenital neutropenia