Hyper-IgM syndrome type 5

General Information (adopted from Orphanet):

Synonyms, Signs: HIGM5
HYPER-IgM SYNDROME 5
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
Number of Symptoms 14
OrphanetNr: 101092
OMIM Id: 608106
ICD-10: D80.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hyper-IgM syndrome without susceptibility to opportunistic infections
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000031) Epididymitis 4 / 7739
2
 (HPO:0200117) Recurrent upper and lower respiratory tract infections 4 / 7739
3
 (HPO:0002959) Impaired Ig class switch recombination 5 / 7739
4
 (HPO:0002720) IgA deficiency 33 / 7739
5
 (HPO:0003496) Increased IgM level 8 / 7739
6
 (HPO:0004315) IgG deficiency 38 / 7739
7
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
8
 (HPO:0002716) Lymphadenopathy 129 / 7739
9
 (HPO:0002721) Immunodeficiency 97 / 7739
10
 (OMIM) B-cell count normal 4 / 7739
11
 (OMIM) Low IgG and IgA 1 / 7739
12
 (OMIM) Chronic epididymitis 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Elevated IgM 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.

For a discussion ...
Clinical Description OMIM Imai et al. (2003) studied 3 unrelated patients from France and Japan with a phenotype resembling HIGM2 (605258), including susceptibility to bacterial infections, lymphoid hyperplasia, increased serum IgM concentrations, and profoundly decreased serum IgG and IgA concentrations, but ...
Molecular genetics OMIM In the 3 patients they reported with HIGM5, Imai et al. (2003) identified 4 mutations in the UNG gene (191525.0001-191525.0004). All 4 mutations occurred within the catalytic domain of the UNG protein. RT-PCR detected both the mitochondrial form ...