Klinische FragestellungHyper-IgM-Syndrom, XL; Differentialdiagnose

NGS +

• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Incontinentia pigmenti (IKBKG)
• Allelic: Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
• Allelic: Lynch syndrome 4 (PMS2)
• Allelic: Lynch syndrome 5 (MSH6)
• Allelic: Mismatch repair cancer syndrome 3 (MSH6)
• Allelic: Mismatch repair cancer syndrome 4 (PMS2)
• Allelic: SHORT syndrome (PIK3R1)
• Allelic: Systemic lupus erythematosus, susceptibility to, 9 (CR2)
• Adenosine deaminase deficiency, partial (ADA)
• Agammaglobulinemia 1 (IGHM)
• Agammaglobulinemia 2 (IGLL1)
• Agammaglobulinemia 3 (CD79A)
• Agammaglobulinemia 4 (BLNK)
• Agammaglobulinemia 5 (LRRC8A)
• Agammaglobulinemia 6 (CD79B)
• Agammaglobulinemia 7, AR (PIK3R1)
• Agammaglobulinemia 8A, AD (TCF3)
• Agammaglobulinemia 8B, AR (TCF3)
• Agammaglobulinemia 9, AR (SLC39A7)
• Agammaglobulinemia, XL 1 (BTK)
• Aplastic anemia (NBN)
• Ataxia-telangiectasia (ATM)
• Autoinflammatory disease, systemic, XL (IKBKG)
• Combined cellular + humoral immune defects with granulomas (RAG1)
• Combined cellular + humoral immune defects with granulomas (RAG2)
• Combined immunodeficiencies with associated or syndromic features [panelapp] (NBN)
• Combined immunodeficiencies with associated or syndromic features [panelapp] (PMS2)
• Combined immunodeficiency, XL, moderate (IL2RG)
• Hyper-IgM syndrome 1 (CD40LG)
• Hyper-IgM syndrome 2 (AICDA)
• Hyper-IgM syndrome 3 (CD40)
• Hyper-IgM syndrome 5 (UNG)
• INO80 deficiency: severe bacterial infections, predominant antibody deficiencies [panelapp] )INO80)
• Immunodeficiency 104, severe combined (IL7R)
• Immunodeficiency 105, severe combined (PTPRC)
• Immunodeficiency 14A, AD (PIK3CD)
• Immunodeficiency 14B, AR (PIK3CD)
• Immunodeficiency 18 (CD3E)
• Immunodeficiency 18, SCID variant (CD3E)
• Immunodeficiency 19, severe combined (CD3D)
• Immunodeficiency 25 (CD247)
• Immunodeficiency 26, with/-out neurologic abnormalities (PRKDC)
• Immunodeficiency 33 (IKBKG)
• Immunodeficiency 36 (PIK3R1)
• Immunodeficiency 8 (CORO1A)
• Immunodeficiency with hyper IgM, type 5 (UNG)
• Immunodeficiency with hyper-IgM, type 2 (AICDA)
• Immunodeficiency with hyper-IgM, type 3 (CD40)
• Immunodeficiency, XL, with hyper-IgM (CD40LG)
• Immunodeficiency, common variable, 1 (ICOS)
• Immunodeficiency, common variable, 10 (NFKB2)
• Immunodeficiency, common variable, 11 (IL21)
• Immunodeficiency, common variable, 12 (NFKB1)
• Immunodeficiency, common variable, 13 (IKZF1)
• Immunodeficiency, common variable, 14 (IRF2BP2)
• Immunodeficiency, common variable, 2 (TNFRSF13B)
• Immunodeficiency, common variable, 3 (CD19)
• Immunodeficiency, common variable, 4 (TNFRSF13C)
• Immunodeficiency, common variable, 5 (MS4A1)
• Immunodeficiency, common variable, 6 (CD81)
• Immunodeficiency, common variable, 7 (CR2)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunoglobulin A deficiency 2 (TNFRSF13B)
• Leukemia, acute lymphoblastic (NBN)
• Nijmegen breakage syndrom (NBN)
• Omenn syndrome (DCLRE1C)
• Omenn syndrome (RAG1, RAG2)
• Predominantly Antibody Deficiencies (MSH6)
• Reticular dysgenesis (AK2)
• Roifman-Chitayat syndrome, digenic (PIK3CD)
• SCID, AR, T-negative/B-positive type (JAK3)
• Severe combined immunodeficiency due to ADA deficiency (ADA)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Severe combined immunodeficiency, B cell-negative (RAG1)
• Severe combined immunodeficiency, B cell-negative (RAG2)
• Severe combined immunodeficiency, XL (IL2RG)
• a/b T-cell lymphopenia + g/d T-cell expansion, severe cytomegalovirus infection, autoimmunity (RAG1)