Hyper-IgM syndrome type 4

General Information (adopted from Orphanet):

Synonyms, Signs: HIGM4
HYPER-IgM SYNDROME 4
Number of Symptoms 17
OrphanetNr: 101091
OMIM Id: 608184
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:0002788) Recurrent upper respiratory tract infections 31 / 7739
2
(HPO:0002754) Osteomyelitis 37 / 7739
3
(HPO:0004798) Recurrent infection of the gastrointestinal tract 9 / 7739
4
(HPO:0002863) Myelodysplasia 30 / 7739
5
(HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
6
(HPO:0002959) Impaired Ig class switch recombination 5 / 7739
7
(HPO:0001890) Autoimmune hemolytic anemia 17 / 7739
8
(HPO:0002110) Bronchiectasis 73 / 7739
9
(HPO:0002849) Absence of lymph node germinal center 4 / 7739
10
(HPO:0002721) Immunodeficiency 97 / 7739
11
(HPO:0002718) Recurrent bacterial infections 75 / 7739
12
(OMIM) B-cell count normal 4 / 7739
13
(OMIM) Tonsillar hyperplasia 1 / 7739
14
(OMIM) Low-to-absent IgG, IgA, IgE 1 / 7739
15
(OMIM) Lymphoid hyperplasia 1 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Normal-to-elevated IgM 1 / 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) investigated the clinical and immunologic characteristics of 15 patients with an unidentified form of HIGM. Although the clinical manifestations were similar to those observed in HIGM2 (605258), which is caused by mutation in the ...