T-B+ severe combined immunodeficiency due to CD45 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
T-B+ SCID due to CD45 deficiency
Number of Symptoms 15
OrphanetNr: 169157
OMIM Id: 608971
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:

Disease classification (adopted from Orphanet):

Parent Diseases: T-B+ severe combined immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0000388) Otitis media 28 / 7739
2
(HPO:0002014) Diarrhea 225 / 7739
3
(HPO:0001744) Splenomegaly 337 / 7739
4
(HPO:0002240) Hepatomegaly 467 / 7739
5
(HPO:0000964) Eczema 81 / 7739
6
(HPO:0005379) Severe T lymphocytopenia 4 / 7739
7
(HPO:0008866) Failure to thrive secondary to recurrent infections 3 / 7739
8
(HPO:0002716) Lymphadenopathy 129 / 7739
9
(HPO:0005390) Recurrent opportunistic infections 4 / 7739
10
(OMIM) Normal or elevated number of peripheral blood B cells 2 / 7739
11
(OMIM) Candida albicans infection 2 / 7739
12
(OMIM) Normal or elevated numbers of functional natural killer cells (NK) 2 / 7739
13
(OMIM) Serum immunoglobulins may be absent, normal, or increased 2 / 7739
14
(OMIM) Recurrent acute pneumonia 3 / 7739
15
(OMIM) Thrush 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cale et al. (1997) reported a child, born of consanguineous Turkish parents, who presented at age 2 months with a fever, rash, hepatosplenomegaly, lymphadenopathy, pneumonitis, and pancytopenia. Cytomegalovirus was detected in buffy coats, a liver biopsy, nasopharyngeal aspirates, ...
Molecular genetics OMIM - IL7R Gene

In 2 unrelated patients with T-, B+, NK+ SCID, Puel et al. (1998) identified mutations in the IL7R gene (146661.0001-146661.0004).

In 3 affected patients from a consanguineous Sicilian family with T-, ...