AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III

General Information (adopted from Orphanet):

Synonyms, Signs: CVID9
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615559
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:0000100) Nephrotic syndrome 83 / 7739
2
(HPO:0012578) Membranous nephropathy 1 / 7739
3
(HPO:0002829) Arthralgia 79 / 7739
4
(HPO:0002240) Hepatomegaly 467 / 7739
5
(HPO:0001744) Splenomegaly 337 / 7739
6
(HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
7
(HPO:0002960) Autoimmunity 78 / 7739
8
(HPO:0002719) Recurrent infections 107 / 7739
9
(HPO:0002716) Lymphadenopathy 129 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Decreased CD19+ B cells 1 / 7739
12
(OMIM) Autoantibodies 2 / 7739
13
(OMIM) Mildly decreased proliferative responses of T cells 1 / 7739
14
(OMIM) Decreased IgG 5 / 7739
15
(MedDRA:10002817) Antiphospholipid syndrome 1 / 7739
16
(OMIM) Increased CD21+ (low) B cells 1 / 7739
17
(OMIM) Decreased memory B cells 1 / 7739
18
(OMIM) Polychondritis, autoimmune 1 / 7739
19
(OMIM) Renal biopsy shows deposition of IgG and complement 1 / 7739
20
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Salzer et al. (2013) reported a 12-year-old boy, born of consanguineous Turkish parents, with a primary immune deficiency syndrome characterized by B-cell deficiency and severe autoimmunity. He had recurrent infections involving most systems (respiratory, urinary, gastrointestinal) beginning in ...
Molecular genetics OMIM In a patient with CVID9, Salzer et al. (2013) identified a homozygous splice site mutation in the PRKCD gene (176977.0001). The mutation was found by homozygosity mapping and exome sequencing and segregated with the disorder in the family. ...