IMMUNODEFICIENCY 15

General Information (adopted from Orphanet):

Synonyms, Signs: IMD15
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615592
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002028) Chronic diarrhea 51 / 7739
2
(HPO:0001508) Failure to thrive 454 / 7739
3
(HPO:0004432) Agammaglobulinemia 17 / 7739
4
(HPO:0011947) Respiratory tract infection 28 / 7739
5
(HPO:0002721) Immunodeficiency 97 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Immunodeficiency-15 (IMD15) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and ...
Clinical Description OMIM Pannicke et al. (2013) reported 4 patients of Northern Cree ancestry from the Manitoba and Saskatchewan regions of Canada who presented shortly after birth with a clinical phenotype consistent with severe combined immunodeficiency (SCID). No close family connection ...
Molecular genetics OMIM In 4 patients of Cree ancestry with primary immunodeficiency, Pannicke et al. (2013) identified a homozygous truncating mutation in the IKBKB gene (c.1292dupG; 603258.0001), resulting in complete loss of protein function. The mutation was found by homozygosity mapping ...