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IllnessHyper-IgM syndrome, XL; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Hyper-IgM syndrome, XL, containing 7 guideline-curated genes and altogether 41 curated genes according to the clinical suspicion.

ID
IP9000
Number of genes
4 Accredited laboratory test
Examined sequence length
4,1 kb (Core-/Core-canditate-Genes)
18,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MSH64083NM_000179.3AR
ATM9171NM_000051.4AR
NBN2265NM_002485.5AR
PMS22589NM_000535.7AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined