Details of Disease

General Information of Disease (ID: DISLWPN6)

Disease Name Hyper-IgM syndrome
Synonyms hyperimmunoglobulin M syndrome; immunodeficiency with hyper-IgM
Definition A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.
Disease Hierarchy
DISPHEWJ: Hyperimmunoglobulin syndrome
DISNGCMN: Inborn error of immunity
DISLWPN6: Hyper-IgM syndrome
Disease Identifiers
MONDO ID
MONDO_0003947
MESH ID
D053306
UMLS CUI
C0272236
MedGen ID
124420
SNOMED CT ID
82286005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AICDA TTKRTP6 moderate Biomarker [1]
REL TT1ZCTH moderate Altered Expression [2]
CD40LG TTIJP3Q Strong Genetic Variation [3]
CD40 TT1ERKL Definitive Genetic Variation [4]
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References

1 A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient.J Clin Immunol. 2018 Jan;38(1):144-148. doi: 10.1007/s10875-017-0466-7. Epub 2017 Dec 19.
2 c-Rel plays a key role in deficient activation of B cells from a non-X-linked hyper-IgM patient.Blood. 2006 Dec 1;108(12):3769-76. doi: 10.1182/blood-2006-03-008839. Epub 2006 Aug 8.
3 Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3K Syndrome.Front Immunol. 2018 Apr 5;9:568. doi: 10.3389/fimmu.2018.00568. eCollection 2018.
4 Haematopoietic stem cell transplant for hyper-IgM syndrome due to CD40 defects: a single-centre experience.Bone Marrow Transplant. 2019 Jan;54(1):63-67. doi: 10.1038/s41409-018-0219-0. Epub 2018 Jun 8.