Information on ALPS3

Basic details

Name: Autoimmune lymphoproliferative syndrome type III | Acronym: ALPS3
Alt. names:

Gene: PRKCD | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2013

Last updated on: 2023-02-28 16:41:18 by

OMIM: 615559

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; medical management (eg, with immunosuppressive agents) of autoimmune manifestations has been described as beneficial. Refs. PMIDs: 23319571; 23430113; 23666743

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Decreased serum complement C3	2 (66.7%)	1 (33.3%)
2	Decreased serum complement C4	2 (66.7%)	1 (33.3%)
3	Hepatomegaly	2 (66.7%)	1 (33.3%)
4	Hepatosplenomegaly	2 (99.9%)	0 (0.0%)
5	Increased number of B cells	2 (99.9%)	0 (0.0%)
6	Lymphoproliferative disorder	2 (66.7%)	1 (33.3%)
7	Absent isohemagglutinin level	1 (99.9%)	0 (0.0%)
8	Alopecia	1 (33.3%)	2 (66.7%)
9	Anticardiolipin IgG antibody positivity	1 (99.9%)	0 (0.0%)
10	Antinuclear antibodies	1 (99.9%)	0 (0.0%)
11	Arthritis	1 (33.3%)	2 (66.7%)
12	Autoimmune hemolytic anemia	1 (33.3%)	2 (66.7%)
13	Autoimmune thrombocytopenia	1 (33.3%)	2 (66.7%)
14	Decreased proportion of switched memory B cells	1 (99.9%)	0 (0.0%)
15	Decreased proportion of memory B cells	1 (99.9%)	0 (0.0%)
16	Elevated C-reactive protein	1 (99.9%)	0 (0.0%)
17	Elevated circulating ALT levels	1 (99.9%)	0 (0.0%)
18	Elevated circulating AST levels	1 (99.9%)	0 (0.0%)
19	elevated ESR	1 (99.9%)	0 (0.0%)
20	Erythematous macule	1 (99.9%)	0 (0.0%)
21	Follicular hyperplasia	1 (99.9%)	0 (0.0%)
22	Generalized lymphadenopathy	1 (99.9%)	0 (0.0%)
23	Hypergammaglobulinaemia	1 (99.9%)	0 (0.0%)
24	Increased proportion autoreactive unresponsive CD21-/low B cells	1 (99.9%)	0 (0.0%)
25	Lymphadenopathy	1 (99.9%)	0 (0.0%)
26	Mediastinal lymphadenopathy	1 (99.9%)	0 (0.0%)
27	Membranous glomerulonephritis	1 (99.9%)	0 (0.0%)
28	Nephrotic syndrome	1 (99.9%)	0 (0.0%)
29	Obstruction of the superior vena cava	1 (99.9%)	0 (0.0%)
30	Persistent EBV viremia	1 (99.9%)	0 (0.0%)
31	Recurrent fevers	1 (99.9%)	0 (0.0%)
32	Recurrent infections	1 (99.9%)	0 (0.0%)
33	Recurrent lower respiratory tract infections	1 (99.9%)	0 (0.0%)
34	Recurrent otitis media	1 (99.9%)	0 (0.0%)
35	Recurrent sinusitis	1 (99.9%)	0 (0.0%)
36	Recurrent upper respiratory tract infection	1 (99.9%)	0 (0.0%)
37	Recurrent urinary tract infections	1 (99.9%)	0 (0.0%)
38	Reduced natural killer cell activity	1 (99.9%)	0 (0.0%)
39	Splenomegaly	1 (33.3%)	2 (66.7%)
40	Stage 5 chronic kidney disease	1 (33.3%)	2 (66.7%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.