Sahlgrenska Universitetssjukhuset

Diagnoslista/länkar

Lista över diagnoser som expertteamet ansvarar för samt länkar till diagnosbeskrivningar.

Lista/länkar till diagnosbeskrivningar
  • Anhidrotic ectodermaldysplasia with immunodeficiency (EDA-ID)
  • Hypohidrotisk ektodermal dysplasi med immunbrist
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Autoimmunt lymfoproliferativt syndrom (ALPS)
  • Autoimmunity with or without lymphoproliferation
  • Calcium channel defects
  • Chronic mucocutaneous candidiasis (CMC)
  • Kronisk mukokutan candidiasis (CMC)
  • Kronisk granulomatös sjukdom
  • Combined immunodeficiencies generally less profound than severe combined immunodeficiency
  • Congenital neutropenias
  • Congenital thrombocytopenia
  • Defects of Motility
  • Defects of Respiratory Burst
  • Defects of Vitamin B12 and Folate metabolism
  • DNA repair defects (other than those in group 1)
  • Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenance
  • Epidermodysplasia verruciformis
  • Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentation
  • Familial hemophagocytic lymphohistiocytosis (FHL) syndromes without hypopigmentation
  • Hemofagocyterande syndrom (familjär hemofagocyterande lymfohistiocytos)
  • Herpes simplex encephalitis (HSE)
  • Neonatal herpes simplexencefalit?
  • Hyper-IgE syndromes (HIES)
  • Hyper-IgM-syndrom (HIES)
  • DOCK8-brist
  • STAT3-brist
  • PGM3-brist
  • Nethertons syndrom
  • Immune dysregulation with colitis
  • Immune-osseous dysplasias
  • Isotype or light chain deficiencies with generally normal numbers of B cells
  • Medelian Susceptibility to mycobacterial disease (MSMD)
  • Other defects
  • Predisposition to invasive fungal diseases
  • Predisposition to severe viral infection
  • Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
  • Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells
  • Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells
  • T regulatory cells genetic defects
  • T−B− SCID DNA recombination defect
  • T−B+ Severe Combined Immunodeficiency (SCID)
  • Svår kombinerad immunbrist (SCID)
  • Thymic defects with additional congenital anomalies
  • TLR signaling pathway deficiency
  • Type 1 Interferonopathies
  • Variabel immunbrist