ErkrankungLymphom, peripheres T-Zell-; somatische Mutationen

NGS +

Aggressive Form des Lymphoms mit spezifischen Symptomen: Vergrößerte, oft zarte Lymphknoten, Fieber, Gewichtsverlust, Ausschlag, hohe Immunglobulinspiegel, verminderte Immunsystemfunktionen, häufige Infektionen

• Alias: Angioimmunoblastic T-cell lymphoma (AITL)
• Alias: Immunoblastic lymphadenopathy
• Alias: Lymphogranulomatosis X
• Alias: T-cell lymphoma, AILD type
• Allelic: Acute myeloid leukemia, somatic (DNMT3A)
• Allelic: D-2-hydroxyglutaric aciduria 2 (IDH2)
• Allelic: Heyn-Sproul-Jackson syndrome (DNMT3A)
• Allelic: Melanoma + neural system tumor syndrome (CDKN2A)
• Allelic: Melanoma, cutaneous malignant, 2 (CDKN2A)
• Allelic: Melanoma-pancreatic cancer syndrome (CDKN2A)
• Allelic: Myelodysplastic syndrome, somatic (TET2)
• Allelic: Tatton-Brown-Rahman syndrome (DNMT3A)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Autoinflammation, immune dysregulation, eosinophilia (JAK1)
• B-cell expansion with NFKB + T-cell anergy (CARD11)
• Ectodermal dysplasia with facial dysmorphism + acral, ocular, brain anomalies, somatic mosaic (RHOA)
• Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
• Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
• Hyper-IgE recurrent infection syndrome (STAT3)
• Immunodeficiency 11A (CARD11)
• Immunodeficiency 11B with atopic dermatitis (CARD11)
• Leukemia, acute promyelocytic, somatic (STAT5B)
• Luscan-Lumish syndrome [macrocephaly, ID, speech delay, low sociability, behavior probl.] (SETD2)
• SCID, AR, T-negative/B-positive type (JAK3)