Hyper-IgM syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: HIGM2
Activation-induced cytidine deaminase deficiency
HYPER-IgM SYNDROME 2
AID deficiency
Number of Symptoms 15
OrphanetNr: 101089
OMIM Id: 605258
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:0200117) Recurrent upper and lower respiratory tract infections 4 / 7739
2
 (HPO:0004798) Recurrent infection of the gastrointestinal tract 9 / 7739
3
 (HPO:0004315) IgG deficiency 38 / 7739
4
 (HPO:0002959) Impaired Ig class switch recombination 5 / 7739
5
 (HPO:0002720) IgA deficiency 33 / 7739
6
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
7
 (HPO:0002716) Lymphadenopathy 129 / 7739
8
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
9
 (HPO:0002721) Immunodeficiency 97 / 7739
10
 (OMIM) Normal-elevated IgM 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) B-cell count normal 4 / 7739
13
 (OMIM) Low-absent IgG, IgA 1 / 7739
14
 (OMIM) Giant germinal centers in lymph nodes 1 / 7739
15
 (OMIM) Defective generation of somatic hypermutations (SHM) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections.

For a discussion of ...
Clinical Description OMIM Revy et al. (2000) described 18 patients from 12 unrelated families who were diagnosed with hyper-IgM syndrome defined by markedly diminished serum levels of IgG and IgA with normal or increased serum level of IgM. All patients presented ...
Molecular genetics OMIM To identify the genetic basis of HIGM2, Revy et al. (2000) performed a genomewide search for susceptibility loci using polymorphic microsatellite markers in affected consanguineous families, and demonstrated strong linkage to 12p13. Since AICDA also maps to 12p13, ...