Hyper-IgM syndrome type 3

General Information (adopted from Orphanet):

Synonyms, Signs: HIGM3
Hyper-IgM syndrome due to CD40 deficiency
HYPER-IgM SYNDROME 3
Number of Symptoms 14
OrphanetNr: 101090
OMIM Id: 606843
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 with susceptibility to opportunistic infections
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0004315) IgG deficiency 38 / 7739
2
 (HPO:0001875) Neutropenia 83 / 7739
3
 (HPO:0002720) IgA deficiency 33 / 7739
4
 (HPO:0003496) Increased IgM level 8 / 7739
5
 (HPO:0005479) IgE deficiency 2 / 7739
6
 (HPO:0002959) Impaired Ig class switch recombination 5 / 7739
7
 (HPO:0002847) Impaired memory B-cell generation 3 / 7739
8
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
9
 (HPO:0002721) Immunodeficiency 97 / 7739
10
 (HPO:0002849) Absence of lymph node germinal center 4 / 7739
11
 (OMIM) Serum IgA, IgG, and IgE severely deficient 2 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation 2 / 7739
14
 (OMIM) Normal or increased IgM 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.

For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, ...
Clinical Description OMIM The clinical features of HIGM3 are similar to those of X-linked HIGM1 and include an inability of B cells to undergo isotype switching, one of the final differentiation steps in the humoral immune system, an inability to mount ...
Molecular genetics OMIM Ferrari et al. (2001) described 2 mutations in the CD40 gene in 3 patients with HIGM3. One patient carried a homozygous silent mutation at the fifth basepair position of exon 5 (109535.0001), involving an exonic splicing enhancer and ...