IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs: IMMUNODEFICIENCY, ISOLATED
IMMUNODEFICIENCY, PURE
Number of Symptoms 7
OrphanetNr:
OMIM Id: 300584
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002720) IgA deficiency 16532398 IBIS 33 / 7739
2
(HPO:0003496) Increased IgM level 16532398 IBIS 8 / 7739
3
(HPO:0004315) IgG deficiency 16532398 IBIS 38 / 7739
4
(HPO:0002847) Impaired memory B-cell generation 16532398 IBIS 3 / 7739
5
(HPO:0002721) Immunodeficiency 97 / 7739
6
(HPO:0011275) Recurrent mycobacterium avium complex infections 16532398 IBIS 2 / 7739
7
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Orange et al. (2004) described a 15-year-old boy with a specific pattern of infectious susceptibility and immunodeficiency. He did not have ectodermal dysplasia and had normal dentition, hair pattern, and perspiration. He had pneumonia 4 times between the ...
Molecular genetics OMIM Orange et al. (2004) found that the patient described by them had a splice mutation in the IKBKG gene that resulted in the skipping of exon 9, with a premature stop codon inserted at position 373 of the ...