IMMUNODEFICIENCY 12

General Information (adopted from Orphanet):

Synonyms, Signs: IMD12
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615468
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
2
(HPO:0002750) Delayed skeletal maturation rare [HPO:skoehler] 250 / 7739
3
(HPO:0001510) Growth delay 295 / 7739
4
(HPO:0004429) Recurrent viral infections 20 / 7739
5
(HPO:0002721) Immunodeficiency 97 / 7739
6
(HPO:0002718) Recurrent bacterial infections 75 / 7739
7
(OMIM) Poor antibody response 1 / 7739
8
(OMIM) Decreased T-cel proliferative response to mitogens 1 / 7739
9
(OMIM) Normal numbers of lymphocytes 1 / 7739
10
(OMIM) Recurrent candidal infections 1 / 7739
11
(OMIM) Primary immunodeficiency 3 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jabara et al. (2013) reported 2 sibs, born of consanguineous Lebanese parents, with a primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations included mastoiditis, aphthous ulcers, ...
Molecular genetics OMIM In 2 sibs, born of consanguineous Lebanese parents, with primary immunodeficiency-12, Jabara et al. (2013) identified a homozygous mutation in the MALT1 gene (604860.0001). The mutation, which was found by homozygosity mapping and whole-exome sequencing, segregated with the ...