Klinische FragestellungSchwerer kombinierter Immundefekt, SCID; Differentialdiagnose

NGS +

• Allelic: Autoimmune disease, multisystem, infantile-onset, 2 (ZAP70)
• Allelic: Hepatitis C virus, susceptibility to (PTPRC)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: IgE, elevated level of (IL21R)
• Allelic: Multiple myeloma, resistance to (LIG4)
• Allelic: Myopathy, tubular aggregate, 1 (STIM1)
• Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
• Allelic: Stormorken syndrome (STIM1)
• Adenosine deaminase deficiency, partial (ADA)
• Allelic: Anauxetic dysplasia 1 (RMRP)
• Allelic: Intellectual developmental disorder dysmorphic face, speech delay, T-cell abnorm (BCL11B)
• Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
• B-cell expansion with NFKB + T-cell anergy (CARD11)
• CHARGE syndrome (CHD7)
• Cartilage-hair hypoplasia (RMRP)
• Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
• Combined immunodeficiencies with associated or syndromic features [panelapp] (RMRP)
• Combined immunodeficiency, XL, moderate (IL2RG)
• Gastrointestinal defects + immunodeficiency syndrome (TTC7A)
• Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
• Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
• Immunodeficiency 10 (STIM1)
• Immunodeficiency 11A (CARD11)
• Immunodeficiency 11B with atopic dermatitis (CARD11)
• Immunodeficiency 15A (IKBKB)
• Immunodeficiency 15B (IKBKB)
• Immunodeficiency 18 (CD3E)
• Immunodeficiency 18, SCID variant (CD3E)
• Immunodeficiency 19 (CD3D)
• Immunodeficiency 22 (LCK)
• Immunodeficiency 24 (CTPS1)
• Immunodeficiency 25 (CD247)
• Immunodeficiency 26, with/-out neurologic abnormalities (PRKDC)
• Immunodeficiency 48 (ZAP70)
• Immunodeficiency 49, severe combined (BCL11B)
• Immunodeficiency 52 (LAT)
• Immunodeficiency 56 (IL21R)
• Immunodeficiency 73A with defective neutrophil chemotaxix + leukocytosis (RAC2)
• Immunodeficiency 73B with defective neutrophil chemotaxis + lymphopenia (RAC2)
• Immunodeficiency 73C with defective neutrophil chemotaxis + hypogammaglobulinemia (RAC2)
• Immunodeficiency 8 (CORO1A)
• Immunodeficiency 9 (ORAI1)
• Immunodeficiency due to purine nucleoside phosphorylase deficiency (PNP)
• LIG4 syndrome (LIG4)
• Omenn syndrome (RAG1, RAG2, DCLRE1C)
• Omenn syndrome [panelapp] (RMRP)
• Otofaciocervical syndrome 2 (PAX1)
• Reticular dysgenesis (AK2)
• SCID, autosomal recessive, T-negative/B-positive type (JAK3)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Severe combined immunodeficiency + microcephaly, growth retard., sens. to ionizing radiation (NHEJ1)
• Severe combined immunodeficiency due to ADA deficiency (ADA)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
• Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive (PTPRC)
• Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive (IL7R)
• Severe combined immunodeficiency, XL (IL2RG)
• Sneddon syndrome (ADA2)
• T-cell immunodeficiency, congenital alopecia + nail dystrophy (FOXN1)
• T-cell lymphopenia, infantile, with/-out nail dystrophy, AD (FOXN1)
• Transcobalamin II deficiency (TCN2)
• Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (ADA2)
• a/b T-cell lymphopenia + g/d T-cell expansion, severe cytomegalovirus infect., autoimmunity (RAG1)