Information on subject 104554

Basic details

Sex: Male

Country: Pakistan

Population: Pakistani

Family ID: 215551

Father: 104567

Mother: 104573

Consanguinity: Yes

Clin. status: Affected

Age of death:

Ref.ID & pub.codes

2016 [837] Fam.1:V.2(V:2)
2016 [843] Fam.1:V.2(P1)
2021 [852] P1
2022 [844] Fam.G:II.2(4)
2024 [903] Fam.A:V.2(023)

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	L272P	EX6	c.815T>C	p.Leu272Pro	missense_variant	Pathogenic	HOM	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Diarrhea	Yes		recurrent
3.00	Decreased IgG levels	No
3.00	Increased IgM levels	Yes
Unk.	Arthritis	Yes
Unk.	Abnormal weight loss	Yes
Unk.	Granulomatosis	No
Unk.	Arthralgia	Yes
Unk.	Lymphadenopathy	Yes
Unk.	Vasculitis	No
Unk.	Myalgia	Yes
0.08	Leukocytosis	Yes
Unk.	ASMA positivity	Yes
Unk.	Pancreatitis	No
Unk.	Failure to thrive	Yes
Unk.	Varicella zoster virus infection	Yes		recurrent
3.00	Increased IgG level	No
0.08	Neutrophilia	Yes
11.00	Autoimmune antibody positivity	No
Unk.	Impaired oxidative burst	No
3.00	Increased IgA levels	Yes
0.01	Skin rash	Yes
Unk.	Abdominal pain	Yes
0.08	Elevated C-reactive protein	Yes
Unk.	Hypertelorism	Yes	mild
Unk.	Protruding ear	Yes
Unk.	Wide nasal bridge	Yes
Unk.	Prominent nose	Yes
Unk.	Thick eyebrow	Yes
Unk.	Carious teeth	Yes
Unk.	Joint swelling	Yes
Unk.	Hepatosplenomegaly	No
0.01	Recurrent fevers	Yes
Unk.	Vomiting	Yes		recurrent
Unk.	Coarse hair	Yes
Unk.	Lipodystrophy	Yes
0.01	Erythema	Yes
Unk.	Mild global developmental delay	Yes
Unk.	Broad chin	Yes
0.17	Panniculitis	Yes		recurrent
Unk.	Neutrophilic infiltration of the skin	Yes
Unk.	Systemic autoinflammation	Yes
Unk.	Localized osteoporosis	Yes
2.00	Cortical cataract	Yes
Unk.	Skin nodule	Yes
0.01	Congenital hydrocele	Yes
Unk.	Cutaneous lymphocytic infiltrates	Yes
Unk.	RSV pneumonia	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
0.04	Leukocytes	46150	5950 - 11900			High
0.04	Neutrophils	34750	1350 - 5500			High
0.08	Leukocytes	32450	5950 - 11900			High
0.15	Leukocytes	42950	5950 - 11900			High
0.15	Neutrophils	18750	1350 - 5500			High
0.38	Leukocytes	43450	5950 - 11900			High
0.72	Neutrophils	43900	1350 - 5500			High
0.73	Leukocytes	54850	5950 - 11900			High
1.23	Leukocytes	43900	5950 - 11900			High
1.25	Neutrophils	37950	1350 - 5500			High
1.72	Leukocytes	42950	5950 - 11900			High
2.07	Leukocytes	19650	5950 - 11900			High
2.32	Neutrophils	63550	1350 - 5500			High
2.39	Neutrophils	19650	1350 - 5500			High
2.53	Leukocytes	45250	5950 - 11900			High
2.55	Neutrophils	13700	1350 - 5500			High
2.58	Neutrophils	37950	1350 - 5500			High
2.80	Leukocytes	37950	5950 - 11900			High
2.93	Neutrophils	29250	1350 - 5500			High
3.10	Leukocytes	12350	5950 - 11900			High
3.12	Neutrophils	5950	1350 - 5500			High*
3.22	Leukocytes	19650	5950 - 11900			High
3.30	Leukocytes	7750	5950 - 11900			Normal*
3.31	Neutrophils	5950	1350 - 5500			High*
3.37	Leukocytes	18750	5950 - 11900			High*
3.38	Neutrophils	9150	1350 - 5500			High*
3.54	Neutrophils	6850	1350 - 5500			High*
3.56	Leukocytes	16450	5950 - 11900			High*
3.95	Neutrophils	13250	1350 - 5500			High*
3.95	Leukocytes	20100	5950 - 11900			High*
4.10	Leukocytes	14150	5950 - 11900			High*
4.11	Neutrophils	3650	1350 - 5500			Normal*
4.18	Neutrophils	15100	1350 - 5500			High*
4.18	Leukocytes	23750	5950 - 11900			High*
4.29	Leukocytes	18750	5950 - 11900			High*
4.30	Neutrophils	7750	1350 - 5500			High*
4.48	Leukocytes	31100	5950 - 11900			High*
4.52	Neutrophils	24250	1350 - 5500			High*
4.71	Leukocytes	16450	5950 - 11900			High*
4.75	Neutrophils	4550	1350 - 5500			Normal*
5.06	Neutrophils	8700	1350 - 5500			High*
5.06	Leukocytes	16900	5950 - 11900			High*
5.21	Leukocytes	14650	5950 - 11900			High*
5.25	Neutrophils	6850	1350 - 5500			High*
5.44	Leukocytes	19650	5950 - 11900			High*
5.70	Neutrophils	12350	1350 - 5500			High*
5.74	Leukocytes	20550	5950 - 11900			High*
6.17	Leukocytes	13250	5950 - 11900			High*
6.54	Neutrophils	4100	1350 - 5500			Normal*
6.65	Neutrophils	6850	1350 - 5500			High*
6.81	Neutrophils	3650	1350 - 5500			Normal*
6.90	Leukocytes	11900	5950 - 11900			Normal*
7.26	Neutrophils	8700	1350 - 5500			High*
7.32	Leukocytes	14650	5950 - 11900			High*
7.78	Leukocytes	10950	5950 - 11900			Normal*
9.70	Neutrophils	2750	1350 - 5500			Normal*
9.73	Leukocytes	7300	5950 - 11900			Normal*
9.92	Neutrophils	5050	1350 - 5500			Normal*
9.96	Leukocytes	11450	5950 - 11900			Normal*
11.00	CD8 T cells	1019	370 - 1100	22.30	11.20 - 34.00	Normal
11.00	T cells	3789	1900 - 3700			High
11.00	B cells	457	270 - 860	10.00	13.00 - 27.00	Normal
11.00	NK cells	320	100 - 480	7.00	4.00 - 17.00	Normal
11.00	CD4 T cells	2404	650 - 1500	52.60	60.00 - 76.00	High

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
	IL-6	1	1 - 1 pg/ml	Normal*
	CXCL10	321	519 - 519 pg/ml	Low
	IL-1b	1	1 - 1 pg/ml	Normal*
	TNFa	41	29 - 29 pg/ml	High*
	IFNg	41	33 - 33 pg/ml	High*
	IL-18	53	57 - 57 pg/ml	Low*
	CXCL9	324	268 - 268 pg/ml	High
	IL-12	24	22 - 22 pg/ml	High*
	IL-16	154	108 - 108 pg/ml	High*
	IL-17	230	200 - 200 pg/ml	High*
	IFNa2	27	15 - 15 pg/ml	High
0.04	CRP	166	1 - 10 mg/L	High
0.08	CRP	66	1 - 10 mg/L	High
0.42	CRP	214	1 - 10 mg/L	High
0.69	CRP	203	1 - 10 mg/L	High
1.19	CRP	237	1 - 10 mg/L	High
1.72	CRP	157	1 - 10 mg/L	High
2.15	CRP	17	1 - 10 mg/L	High
2.34	CRP	277	1 - 10 mg/L	High
2.38	CRP	54	1 - 10 mg/L	High
2.68	CRP	83	1 - 10 mg/L	High
2.80	CRP	211	1 - 10 mg/L	High
3.00	IgA	261	35 - 139 mg/dL	High
3.00	IgM	335	43 - 190 mg/dL	High
3.00	IgG	1100	360 - 1520 mg/dL	Normal
3.18	CRP	11	1 - 10 mg/L	High*
3.26	CRP	157	1 - 10 mg/L	High*
3.37	CRP	3	1 - 10 mg/L	Normal*
3.95	CRP	51	1 - 10 mg/L	High*
4.10	CRP	11	1 - 10 mg/L	High*
4.14	CRP	83	1 - 10 mg/L	High*
4.30	CRP	14	1 - 10 mg/L	High*
4.37	CRP	386	1 - 10 mg/L	High*
4.56	CRP	14	1 - 10 mg/L	High*
4.71	CRP	3	1 - 10 mg/L	Normal*
5.36	CRP	31	1 - 10 mg/L	High*
5.52	CRP	9	1 - 10 mg/L	Normal*
6.17	CRP	69	1 - 10 mg/L	High*
6.67	CRP	3	1 - 10 mg/L	Normal*
7.00	IgM	146	50 - 200 mg/dL	Normal*
7.00	IgG	1018	490 - 1610 mg/dL	Normal*
7.00	IgA	93	40 - 200 mg/dL	Normal*
7.32	CRP	43	1 - 10 mg/L	High*
8.50	CRP	11	1 - 10 mg/L	High*
9.90	CRP	31	1 - 10 mg/L	High*
11.00	CRP	1	1 - 10 mg/L	Normal*

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

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	TNF-alpha production	📊 increased	Monocytes	ELISA	LPS	843
Unk.	IFN-gamma production	📊 increased	Blood cells	ELISA	LPS	843
Unk.	Cell death	normal	Fibroblasts	CVA	Aerolysin, SLO	844
Unk.	Cell death	📊 increased	Fibroblasts	CVA	a-toxin, S. aureus, TNF+BV6	844
Unk.	IL-6 production	normal	Fibroblasts	ELISA	Basal, TNF	844
Unk.	IL-6 production	📊 increased	Monocytes	ELISA	IL-1 beta, LPS, TNF	843
Unk.	IL-6 production	📊 increased	Blood cells	ELISA	LPS	843
Unk.	IL-1b production	📊 increased	Monocytes	ELISA	LPS, TNF	843
Unk.	IL-1b production	📊 increased	Blood cells	ELISA	LPS	843
Unk.	IL-8 production	normal	Fibroblasts	ELISA	Basal, TNF	844
Unk.	p-JNK	increased	Fibroblasts	WB	TNF	843
Unk.	CCL2 production	📊 increased	Monocytes	MCA	Basal	852
Unk.	CCL2 production	📊 increased	PBMCs	MCA	Basal	852
Unk.	CCL2 production	📊 increased	Blood cells	MCA	LPS, poly(I:C)	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.	OTULIN protein expression	decreased	Buffy coat cells	WB	Basal	837
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.	SHARPIN protein expression	decreased	Buffy coat cells	WB	Basal	837
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	TNF	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	TNF	843
Unk.	Amount of Met1-Ub chains	increased	Fibroblasts	IF, MassSpec	Basal	844
Unk.	Amount of Met1-Ub chains	increased	Buffy coat cells	WB	Basal	837
Unk.	OTULIN mRNA expression	normal	Fibroblasts	RT-qPCR	Basal	844
Unk.	IL-1a production	📊 increased	Blood cells	ELISA	LPS	843
Unk.	IL-12p40 production	📊 increased	Blood cells	ELISA	LPS	843
Unk.	IL-18 production	📊 increased	Monocytes	ELISA	LPS	843
Unk.	IL-18 production	📊 increased	Blood cells	ELISA	LPS	843
Unk.	IL-12 production	📊 increased	Blood cells	ELISA	LPS	843
Unk.	IL-16 production	📊 increased	Monocytes	ELISA	LPS	843
Unk.	Caspase-like proteasome activity	📊 decreased	Fibroblasts	PAA	Basal	852
Unk.	CXCL10 production	📊 increased	Monocytes	MCA	Basal	852
Unk.	CXCL10 production	📊 increased	PBMCs	MCA	Basal	852
Unk.	CXCL10 production	📊 increased	Blood cells	MCA	LPS, poly(I:C)	852
Unk.	CXCL9 production	📊 increased	Monocytes	MCA	Basal	852
Unk.	CXCL9 production	📊 increased	Blood cells	MCA	LPS, poly(I:C)	852
Unk.	IFN alpha-2 production	📊 increased	Blood cells	MCA	LPS, poly(I:C)	852
Unk.	CCL5 production	📊 increased	PBMCs	MCA	Basal	852
Unk.	Amount of Lys48-Ub chains	increased	Fibroblasts	WB	Basal	852
Unk.	Tryptic-like proteasome activity	📊 normal	Fibroblasts	PAA	Basal	852
Unk.	Chymotryptic-like proteasome activity	📊 normal	Fibroblasts	PAA	Basal	852
Unk.	Proteasome assembly	aberrant	Fibroblasts	nPAGE	Basal	852
Unk.	Amount of high-MW caveolin-1 complexes	increased	Fibroblasts	Co-IP, WB	Basal	844
Unk.	Amount of K63-Ub caveolin-1 complexes	increased	Fibroblasts	Co-IP	Basal	844
Unk.	alpha-toxin binding	increased	Fibroblasts	FCA	Basal	844
Unk.	ADAM10 surface expression	increased	Fibroblasts	FCA	a-toxin	844

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* Compared to WT controls
📊 shows raw values on hover