APLAID
MCID: ATN016
MIFTS: 23

Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated (APLAID)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

MalaCards integrated aliases for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

Name: Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 57 29 6 40 73
Aplaid 57 59 75
Autoinflammation, Antibody Deficiency, and Immune Dysregulation Syndrome 57 13
Autoinflammation and Plcg2-Associated Antibody Deficiency and Immune Dysregulation 37
Autoinflammation, Antibody Deficiency, and Immune Dysregulation Plcg2-Associated 75
Autoinflammation-Plcg2-Associated Antibody Deficiency-Immune Dysregulation 59

Characteristics:

Orphanet epidemiological data:

59
autoinflammation-plcg2-associated antibody deficiency-immune dysregulation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
one family has been reported (last curated october 2012)
skin lesions worsen with heat or sun exposure


HPO:

32
autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

OMIM : 57 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012). (614878)

MalaCards based summary : Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated, is also known as aplaid, and has symptoms including arthralgia An important gene associated with Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated is PLCG2 (Phospholipase C Gamma 2), and among its related pathways/superpathways is NF-kappa B signaling pathway. Affiliated tissues include skin, eye and bone, and related phenotypes are cataract and arthralgia

UniProtKB/Swiss-Prot : 75 Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated: An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies.

Related Diseases for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Symptoms & Phenotypes for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
cellulitis
blistering skin lesions, recurrent
erythematous plaques
vesiculopustular lesions

Skeletal:
arthralgias

Head And Neck Eyes:
cataracts (1 patient)
eye inflammation (1 patient)
corneal blisters (1 patient)
corneal erosions (1 patient)

Abdomen Gastrointestinal:
ulcerative colitis (1 patient)

Respiratory Lung:
interstitial pneumonitis
respiratory bronchiolitis

Immunology:
decreased igm
decreased iga
impaired b cell memory cells
lack of autoantibodies
decreased numbers of nk t cells

Respiratory:
sinopulmonary infections, recurrent

Skin Nails Hair Skin Histology:
inflammatory infiltrate of neutrophils, lymphocytes, eosinophils, and histiocytes


Clinical features from OMIM:

614878

Human phenotypes related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 32 occasional (7.5%) HP:0000518
2 arthralgia 32 HP:0002829
3 corneal erosion 32 occasional (7.5%) HP:0200020
4 recurrent infections 32 HP:0002719
5 erythema 32 HP:0010783
6 cellulitis 32 HP:0100658
7 iga deficiency 32 HP:0002720
8 igm deficiency 32 HP:0002850
9 ulcerative colitis 32 occasional (7.5%) HP:0100279
10 interstitial pneumonitis 32 HP:0006515
11 immune dysregulation 32 HP:0002958
12 bronchiolitis 32 HP:0011950

UMLS symptoms related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:


arthralgia

Drugs & Therapeutics for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Search Clinical Trials , NIH Clinical Center for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated

Genetic Tests for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Genetic tests related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

# Genetic test Affiliating Genes
1 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 29 PLCG2

Anatomical Context for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

MalaCards organs/tissues related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

41
Skin, Eye, Bone, Neutrophil, T Cells, B Cells

Publications for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Variations for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

UniProtKB/Swiss-Prot genetic disease variations for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

75
# Symbol AA change Variation ID SNP ID
1 PLCG2 p.Ser707Tyr VAR_069211 rs397514562

ClinVar genetic disease variations for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCG2 NM_002661.4(PLCG2): c.2120C> A (p.Ser707Tyr) single nucleotide variant Pathogenic rs397514562 GRCh37 Chromosome 16, 81953154: 81953154
2 PLCG2 NM_002661.4(PLCG2): c.2120C> A (p.Ser707Tyr) single nucleotide variant Pathogenic rs397514562 GRCh38 Chromosome 16, 81919549: 81919549

Expression for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Search GEO for disease gene expression data for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated.

Pathways for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Pathways related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated according to KEGG:

37
# Name Kegg Source Accession
1 NF-kappa B signaling pathway hsa04064

GO Terms for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Sources for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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