Centrum für Chronische Immundefizienz (CCI) am Universitätsklinikum Freiburg Assigned diseases:
In the following you will find the diseases that are treated in this facility:
Absent thumb-short stature-immunodeficiency syndrome
Acquired immunodeficiency
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Autoinflammatory syndrome with immune deficiency
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Cernunnos-XLF deficiency
Combined T and B cell immunodeficiency
Combined immunodeficiency due to CARD11 deficiency
Combined immunodeficiency due to CARMIL2 deficiency
Combined immunodeficiency due to CD27 deficiency
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CD70 deficiency
Combined immunodeficiency due to CRAC channel dysfunction
Combined immunodeficiency due to DOCK2 deficiency
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to FCHO1 deficiency
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to ITK deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to Moesin deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to RELA haploinsufficiency
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to TFRC deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with granulomatosis
Combined immunodeficiency-enteropathy spectrum
Common variable immunodeficiency
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
FADD-related immunodeficiency
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Familial hyperinflammatory lymphoproliferative immunodeficiency
Genetic immune deficiency with skin involvement
Good syndrome
Griscelli syndrome
Hoyeraal-Hreidarsson syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Immune deficiency due to impaired neutrophil phagocytosis and migration
Immune deficiency with skin involvement
Immune dysregulation disease with immunodeficiency
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 component deficiency
Immunodeficiency due to a complement cascade protein anomaly
Immunodeficiency due to a complement regulatory deficiency
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 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
Immunodeficiency-associated lymphoproliferative disease
LIG4 syndrome
Laron syndrome with immunodeficiency
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Methylenetetrahydrofolate dehydrogenase 1 deficiency
NIK deficiency
Neutrophil immunodeficiency syndrome
Nijmegen breakage syndrome
Non-severe combined immunodeficiency
Omenn syndrome
Other immunodeficiency syndrome with predominantly antibody defects
Other immunodeficiency syndromes due to defects in innate immunity
PGM3-CDG
PLCG2-associated antibody deficiency and immune dysregulation
Pancytopenia due to IKZF1 mutations
Periodic fever-immunodeficiency-thrombocytopenia syndrome
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
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Primary immunodeficiency with predisposition to severe viral infection
RIDDLE syndrome
Reticular dysgenesis
Say-Barber-Miller syndrome
Severe combined immunodeficiency
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to CTPS1 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 LAT 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
Short-limb skeletal dysplasia with severe combined immunodeficiency
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Spondylometaphyseal dysplasia with combined immunodeficiency
Syndrome with combined immunodeficiency
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
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Wiskott-Aldrich syndrome
X-linked combined immunodeficiency due to SASH3 deficiency
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia