Severe combined immunodeficiency due to CARD11 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: CARD11 IMMUNODEFICIENCY
IMD11
SCID due to CARD11 deficiency
Number of Symptoms 13
OrphanetNr: 357237
OMIM Id: 615206
ICD-10: D81.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004313) Decreased antibody level in blood 47 / 7739
2
(HPO:0002205) Recurrent respiratory infections 254 / 7739
3
(HPO:0002090) Pneumonia 59 / 7739
4
(HPO:0002721) Immunodeficiency 97 / 7739
5
(OMIM) Increased transitional B cells 1 / 7739
6
(OMIM) Decreased regulatory T cells 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Decreased effector T cells 1 / 7739
9
(OMIM) Normal numbers of T and B cells 1 / 7739
10
(OMIM) Defective intracellular signaling in lymphocytes 1 / 7739
11
(OMIM) Decreased differentiated B cells 1 / 7739
12
(HPO:0003593) Infantile onset 249 / 7739
13
(OMIM) Defective response of B and T cells to activation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Immunodeficiency-11 is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well ...
Clinical Description OMIM Greil et al. (2013) reported a girl, born of consanguineous parents of central European descent, with severe combined immunodeficiency. The patient presented at 6 months of age with interstitial pneumonia due to Pneumocystis jirovecii infection and was found ...
Molecular genetics OMIM In a girl, born of consanguineous parents of Central European descent, with immunodeficiency-11, Greil et al. (2013) identified a homozygous truncating mutation in the CARD11 gene (607210.0003). Stepensky et al. (2013) reported another patient with immunodeficiency who was ...