T-B+ severe combined immunodeficiency due to JAK3 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
T-B+ SCID due to JAK3 deficiency
Number of Symptoms 19
OrphanetNr: 35078
OMIM Id: 600802
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: T-B+ severe combined immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
2
 (HPO:0001287) Meningitis 46 / 7739
3
 (HPO:0005214) Intestinal obstruction 35 / 7739
4
 (HPO:0002014) Diarrhea 225 / 7739
5
 (HPO:0001508) Failure to thrive 454 / 7739
6
 (HPO:0003139) Panhypogammaglobulinemia 6 / 7739
7
 (HPO:0002965) Cutaneous anergy 7 / 7739
8
 (HPO:0002090) Pneumonia 59 / 7739
9
 (HPO:0002733) Abnormality of the lymph nodes 3 / 7739
10
 (HPO:0004430) Severe combined immunodeficiency 16 / 7739
11
 (OMIM) Markedly reduced numbers of natural killer cells 1 / 7739
12
 (OMIM) Absent delayed hypersensitivity skin test 1 / 7739
13
 (OMIM) Undetectable/absent peripheral lymph nodes 1 / 7739
14
 (OMIM) Intrinsic B cell defect 1 / 7739
15
 (OMIM) Increased proportion of CD19+ B cells 1 / 7739
16
 (OMIM) Severely reduced proliferative response to mitogens, antigens, and alloantigens 1 / 7739
17
 (OMIM) Absent natural killer cell cytotoxicity 2 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Markedly reduced CD3+ proportion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Candotti et al. (1997) noted that patients with SCID due to JAK3 deficiency have a clinical phenotype that is virtually identical to X-linked SCID. Both disorders are characterized by the absence of circulating mature T lymphocytes and NK ...
Molecular genetics OMIM In 2 unrelated patients with T-, B+, NK- SCID, both with consanguineous parents, Macchi et al. (1995) identified homozygous mutations in the JAK3 gene (600173.0001 and 600173.0002, respectively). Both patients had increased numbers of nonfunctional B cells and ...