Information on subject 104580

Basic details

Sex: Female

Country: Turkey

Population: Turkish

Family ID: 215553

Father: 104582

Mother: 104581

Consanguinity: Yes

Clin. status: Affected

Age of death:

Ref.ID & pub.codes

2016 [843] Fam.3:II.1(P3)
2021 [852] P3
2022 [844] Fam.H:II.1(3)
2024 [903] Fam.C:II.1(039)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
AIPDS	Autoinflammation, panniculitis, and dermatosis syndrome	AR	11.00	0.08

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
OTULIN	G174Dfs*2	EX5	c.517del	p.Gly174AspfsTer2	frameshift_variant	Pathogenic	HOM	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Presentation
11.00	Diarrhea	No
11.00	Pneumonia	No
Unk.	Arthralgia	Yes
Unk.	Lymphadenopathy	Yes
0.01	Fever	Yes
0.01	Vasculitis	Yes
Unk.	Myalgia	Yes
Unk.	Leukocytosis	Yes
Unk.	Lymphadenitis	Yes	recurrent
Unk.	Failure to thrive	Yes
11.00	Autoimmune antibody positivity	No
Unk.	Increased IgA levels	Yes
0.01	Skin rash	Yes
11.00	Abdominal pain	No
Unk.	Elevated C-reactive protein	Yes
Unk.	Papulopustular Rash	Yes
Unk.	Grand mal seizures	Yes
Unk.	Global developmental delay	Yes
Unk.	Hepatosplenomegaly	Yes
Unk.	Lipodystrophy	Yes
0.01	Erythema	Yes
Unk.	Epileptic spasm	Yes
0.01	Panniculitis	Yes
Unk.	Systemic autoinflammation	Yes
0.01	Skin nodule	Yes
Unk.	Neutralising alpha-toxin antibodies	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
	Leukocytes	26600	6000 - 12000			High*
11.00	B cells	932	270 - 860	12.80	13.00 - 27.00	High
11.00	T cells	6072	1900 - 3700			High
11.00	Leukocytes	14000	6000 - 12000			High
11.00	NK cells	269	100 - 480	3.70	4.00 - 17.00	Normal
11.00	CD8 T cells	2308	370 - 1100	31.70	11.20 - 38.00	High
11.00	CD4 T cells	2876	650 - 1500	39.50	60.00 - 76.00	High

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
	CRP	200	1 - 10 mg/L	High*
	IL-17	200	200 - 200 pg/ml	Normal*
	IL-16	200	108 - 108 pg/ml	High*
	IL-12	82	22 - 22 pg/ml	High*
	IL-1b	2	1 - 1 pg/ml	High*
	CXCL9	547	268 - 268 pg/ml	High
	IL-6	9	1 - 1 pg/ml	High*
	IFNg	49	33 - 33 pg/ml	High*
	TNFa	69	29 - 29 pg/ml	High*
	IL-18	163	57 - 57 pg/ml	High*
	CXCL10	943	519 - 519 pg/ml	High
	IFNa2	42	15 - 15 pg/ml	High
11.00	CRP	63	1 - 10 mg/L	High

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

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	p-STAT1	increased	T cells	FCA	IL-6	852
Unk.	OAS1 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	ISG15 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	Cell proliferation	📊 normal	B cells	CPA	IL-4	843
Unk.	Cell proliferation	📊 normal	CD8 T cells	CPA	anti-CD3/CD28	843
Unk.	Cell proliferation	📊 normal	CD4 T cells	CPA	anti-CD3/CD28	843
Unk.	p-p65-NFkB	increased	T cells	FCA	IL-6	852
Unk.	Cell death	increased	Fibroblasts	CVA	TNF+BV6	844
Unk.	IL-6 production	normal	Fibroblasts	ELISA	Basal, TNF	844
Unk.	IL-8 production	normal	Fibroblasts	ELISA	Basal, TNF	844
Unk.	p-JNK	increased	Fibroblasts	WB	TNF	843
Unk.	CCL2 production	📊 increased	PBMCs	MCA	Basal	852
Unk.	OTULIN protein expression	absent	Fibroblasts	WB	Basal	843
Unk.	OTULIN protein expression	decreased	Fibroblasts	WB	TNF	843
Unk.	OTULIN protein expression	decreased	Fibroblasts	CyToF, WB	Basal	844
Unk.	p-IkB-alpha	increased	PBMCs	WB	TNF	843
Unk.	p-IkB-alpha	increased	Fibroblasts	WB	TNF	843
Unk.	p-IKKa/b	increased	PBMCs	WB	TNF	843
Unk.	p-IKKa/b	increased	Fibroblasts	WB	TNF	843
Unk.	SHARPIN protein expression	decreased	Fibroblasts	WB	Basal	844
Unk.	HOIP protein expression	decreased	Fibroblasts	WB	Basal	844
Unk.	HOIL-1 protein expression	decreased	Fibroblasts	WB	Basal	844
Unk.	p-P38	increased	Fibroblasts	WB	TNF	843
Unk.	Proportion of TNF-alpha+ cells	📊 increased	Monocytes	FCA	Basal, LPS	843
Unk.	Linear ubiquitin chain hydrolysis	decreased	PBMCs	Co-IP	IL-1 beta	843
Unk.	Linear ubiquitin chain hydrolysis	decreased	Fibroblasts	Co-IP	IL-1 beta	843
Unk.	Amount of Met1-Ub chains	increased	PBMCs	Co-IP	IL-1 beta	843
Unk.	Amount of Met1-Ub chains	increased	Fibroblasts	Co-IP	IL-1 beta	843
Unk.	Amount of Met1-Ub chains	increased	Fibroblasts	IF, MassSpec	Basal	844
Unk.	IFI27 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	IFI44 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	OTULIN mRNA expression	decreased	Fibroblasts	RT-qPCR	Basal	844
Unk.	Caspase-like proteasome activity	📊 decreased	PBMCs	PAA	Basal	852
Unk.	Caspase-like proteasome activity	📊 decreased	Fibroblasts	PAA	Basal	852
Unk.	CXCL10 production	📊 decreased	PBMCs	MCA	Basal	852
Unk.	CCL5 production	📊 increased	PBMCs	MCA	Basal	852
Unk.	Proportion of IFN-b+ cells	📊 increased	B cells	FCA	Basal	852
Unk.	Proportion of IFN-b+ cells	📊 increased	T cells	FCA	Basal	852
Unk.	Proportion of CCL5+ cells	📊 increased	B cells	FCA	Basal	852
Unk.	Proportion of CCL5+ cells	📊 increased	T cells	FCA	Basal	852
Unk.	CXCL10 mRNA expression	📊 normal	PBMCs	RT-qPCR	LPS	852
Unk.	CXCL10 mRNA expression	📊 increased	PBMCs	RT-qPCR	poly(I:C)	852
Unk.	IFIH1 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	IFIT2 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	IRF7 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	USP18 mRNA expression	📊 increased	PBMCs	RT-qPCR	LPS, poly(I:C)	852
Unk.	Tryptic-like proteasome activity	📊 decreased	PBMCs	PAA	Basal	852
Unk.	Tryptic-like proteasome activity	📊 normal	Fibroblasts	PAA	Basal	852
Unk.	Chymotryptic-like proteasome activity	📊 decreased	PBMCs	PAA	Basal	852
Unk.	Chymotryptic-like proteasome activity	📊 normal	Fibroblasts	PAA	Basal	852
Unk.	Proteasome assembly	aberrant	PBMCs	nPAGE	Basal	852
Unk.	Proteasome assembly	aberrant	Fibroblasts	nPAGE	Basal	852
Unk.	Linear ubiquitination of proteasomes	increased	Fibroblasts	WB	Basal	852
Unk.	Amount of high-MW caveolin-1 complexes	increased	Fibroblasts	WB	Basal	844

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