Deutsche Selbsthilfe Angeborene Immundefekte e.V. (dsai) Assigned 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
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 due to STAT3 deficiency
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 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
Bacterial susceptibility due to TLR signaling pathway 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 CARD11 deficiency
Combined immunodeficiency due to CD27 deficiency
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CRAC channel dysfunction
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to IL21R 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 facio-oculo-skeletal anomalies
Combined immunodeficiency with granulomatosis
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
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 syndrome type 2
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hermansky-Pudlak syndrome due to AP-3 deficiency
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 MHC class I
Immunodeficiency by defective expression of MHC class II
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
NLRP3-associated autoinflammatory disease
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
PAPA syndrome
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 LAMTOR2 deficiency
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Properdin deficiency
Purine nucleoside phosphorylase 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 CORO1A deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to FOXN1 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 due to STAT1 deficiency
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
T-cell immunodeficiency with thymic aplasia
TCR-alpha-beta-positive T-cell deficiency
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