Information on subject 104583

Basic details

Sex: Female

Country: Israel

Population: Arab

Family ID: 215554

Father: 104588

Mother: 104589

Consanguinity: Yes

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
AIPDS	Autoinflammation, panniculitis, and dermatosis syndrome	AR	11.50	0.01

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
OTULIN	G281R	EX6	c.841G>A	p.Gly281Arg	missense_variant	Pathogenic	HOM	Yes, alone

Age	Sign/Symptom	Present?	Severity
0.58	Diarrhea	Yes
0.58	Decreased IgA levels	No
0.58	Decreased IgG levels	No
0.58	Decreased IgM levels	No
0.58	Reduced number of B cells	No
0.58	Splenomegaly	Yes	severe
2.17	Arthritis	Yes
2.60	Arthritis	Yes
0.58	Cataract	Yes
0.58	Reduced NK cell number	No
0.21	Fever	Yes
0.58	Vasculitis	No
0.58	Antinuclear antibodies	No
0.58	Leukocytosis	Yes
0.58	Anemia	Yes	severe
0.58	Reduced T cell count	No
Unk.	Premature birth	Yes
0.60	Cachexia	Yes
0.58	Hyperferritinemia	Yes
0.58	Monocytosis	Yes
0.58	Impaired oxidative burst	No
0.58	Elevated C-reactive protein	Yes
0.01	Cyanosis	Yes
0.20	Normocytic anemia	Yes	severe
0.01	Recurrent fevers	Yes
0.58	Recurrent fevers	Yes
0.58	Decreased serum complement C3	No
0.58	Erythema	Yes
0.01	Panniculitis	Yes
0.58	Panniculitis	Yes
0.58	Finger swelling	Yes
0.58	Increased circulating IL-6	Yes
0.60	Conjunctival hyperemia	Yes
0.58	Neutrophilic infiltration of the skin	Yes
0.58	Eosinophilic dermal infiltration	Yes
1.42	Hematopoietic stem cell transplantation	Yes
0.01	Systemic autoinflammation	Yes
0.01	Neonatal sepsis	Yes
0.01	Skin nodule	Yes
0.21	Skin nodule	Yes
1.50	Graft Versus Host Disease	Yes
0.58	Elevated sIL-2R in serum	Yes
0.58	Epidermal spongiosis	Yes

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result

[ℹ] shows name on hover
* Measured during IVIG or other treatment.

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	p-p65-NFkB	decreased	Fibroblasts	WB	TNF	839
Unk.	p-p65-NFkB	normal	Fibroblasts	WB	Basal	839
Unk.	Cell death	normal	Fibroblasts	CPA	TNF	839
Unk.	Cell death	increased	Fibroblasts	CPA	TNF+CHX	839
Unk.	IL-8 production	decreased	Fibroblasts	WB	TNF	839
Unk.	p-JNK	decreased	Fibroblasts	WB	TNF	839
Unk.	OTULIN protein expression	absent	Fibroblasts	WB	Basal	839
Unk.	p-IkB-alpha	decreased	Fibroblasts	WB	TNF	839
Unk.	SHARPIN protein expression	decreased	Fibroblasts	WB	Basal	839
Unk.	HOIP protein expression	decreased	Fibroblasts	WB	Basal	839
Unk.	HOIL-1 protein expression	decreased	Fibroblasts	WB	Basal	839
Unk.	IkB-alpha degradation	decreased	Fibroblasts	WB	TNF	839
Unk.	IkB-alpha degradation	normal	Fibroblasts	WB	Basal	839
Unk.	TNF signalling	decreased	Fibroblasts	WB	TNF	839
Unk.	p-P38	decreased	Fibroblasts	WB	TNF	839

[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover