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