Information on subject 104630

Basic details

Sex: Male

Country:

Population:

Family ID: 215560

Father: 104632

Mother: 104631

Consanguinity: Yes

Clin. status: Affected

Age of death: 6.1

Ref.ID & pub.codes

2023 [849] Fam.C:II.2(P3)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
ADMIDX	X-linked multisystem autoinflammatory disease with immune dysregulation	XLR	6.10	0.33

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
DOCK11	W1707S	EX46	c.5120G>C	p.Trp1707Ser	missense_variant	Pathogenic	HEM	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Presentation
Unk.	Decreased IgA levels	Yes
Unk.	Decreased IgG levels	Yes
Unk.	Decreased IgM levels	Yes
Unk.	Splenomegaly	Yes
Unk.	Arthritis	Yes
Unk.	Pneumonia	Yes
Unk.	Increased proportion of CD21low B cells	Yes	recurrent
Unk.	Dermatitis	Yes
Unk.	Hypothyroidism	Yes
Unk.	Reduced NK cell number	No
Unk.	Gastrointestinal inflammation	Yes
Unk.	Septicaemia	Yes
Unk.	Leukocytosis	Yes
Unk.	Increased IgE levels	No
Unk.	Hepatomegaly	Yes
Unk.	Reduced T cell count	No
Unk.	Failure to thrive	Yes
Unk.	Abnormal monocyte count	No
Unk.	Thrombocytosis	Yes
Unk.	Autoimmune antibody positivity	No
Unk.	Nephrotic syndrome	Yes
Unk.	Myositis	Yes
Unk.	Amyloidosis	Yes
Unk.	Normocytic anemia	Yes	chronic
Unk.	Recurrent fevers	Yes
Unk.	Anisocytosis	Yes
Unk.	Increased inflammatory response	Yes
Unk.	Abnormal CD4+CD25+ regulatory T cell proportion	No
Unk.	Cellulitis	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
	Platelets	800000	150000 - 400000			High
0.33	Platelets	500000	150000 - 400000			High
1.00	Neutrophils	27000	1000 - 8000			High
1.00	Lymphocytes	6800	3000 - 13000			Normal
1.00	Leukocytes	37000	6000 - 17000			High
1.00	Monocytes	2180	300 - 850			High
3.00	class switched memory B cells			3.40	1.50 - 4.10	Normal
3.00	transitional B cells			14.45	3.10 - 12.00	High
3.00	CD8 T cells	1085	200 - 1800	24.45	9.00 - 49.00	Normal
3.00	CD4 T cells	1751	500 - 2700	39.45	25.00 - 66.00	Normal
3.00	naive B cells			91.24	83.40 - 90.10	High
3.00	class-switched plasmablasts			0.21	0.60 - 4.00	Low
3.00	marginal zone B cells			2.65	4.10 - 6.90	Low
3.00	B cells	728	670 - 1619	14.97	16.50 - 25.80	Normal
3.33	Platelets	827000	150000 - 450000			High
3.33	Neutrophils	5800	1500 - 8500			Normal
3.33	Monocytes	3600	275 - 775			High
3.33	Leukocytes	21580	6000 - 17000			High
3.33	Lymphocytes	12000	2000 - 10000			High
3.42	Lymphocytes	4900	2000 - 10000			Normal
3.42	Leukocytes	16990	6000 - 17100			Normal
3.42	Monocytes	1970	275 - 775			High
3.42	Platelets	712000	150000 - 450000			High
3.42	Neutrophils	10100	1500 - 8500			High
3.42	Erythrocytes	3500000	3900000 - 5300000			Low
3.50	Monocytes	700	275 - 775			Normal
3.50	Lymphocytes	5700	2000 - 10000			Normal
3.50	Leukocytes	19840	6000 - 17200			High
3.50	Platelets	512000	150000 - 450000			High
3.50	Neutrophils	13300	1500 - 8500			High
3.50	Erythrocytes	4030000	3900000 - 5300000			Normal
4.08	Leukocytes	23400	6000 - 17300			High
4.08	Lymphocytes	10500	2000 - 10000			High
4.08	Platelets	793000	150000 - 450000			High
4.08	Erythrocytes	3990000	3900000 - 5300000			Normal
4.08	Reticulocytes			9.30	0.82 - 1.45	High
4.08	Monocytes	1900	275 - 775			High
4.08	Neutrophils	8700	1500 - 8500			High
4.10	Naive CD8+ T cells			74.40	19.00 - 99.99	Normal
4.10	class-switched plasmablasts			2.37	0.60 - 4.00	Normal
4.10	central memory CD4 T cells			16.10	15.00 - 56.00	Normal
4.10	Effector memory CD4 T cells			8.85	0.26 - 9.00	Normal
4.10	CD4 T cells	6981	500 - 2700	81.00	25.00 - 66.00	High
4.10	alpha-beta double-negative T cells			1.06	1.00 - 7.00	Normal
4.10	plasmablasts			0.62	0.10 - 4.00	Normal
4.10	naive CD4 T cells			69.70	52.00 - 92.00	Normal
4.10	Effector memory CD8 TEMRA			14.40	6.00 - 83.00	Normal
4.10	Effector memory CD8 T cells			6.31	10.00 - 55.00	Low
4.10	central memory CD8 T cells			4.93	1.00 - 9.00	Normal
4.10	CD8 T cells	928	200 - 1800	11.90	9.00 - 49.00	Normal
4.10	NK cells	457	180 - 510	11.70	6.00 - 21.00	Normal
4.10	CD21-/low B cells			4.00	1.80 - 5.20	Normal
4.10	transitional B cells			1.69	3.10 - 12.00	Low
4.10	gamma-delta T cells			2.99	0.92 - 38.00	Normal
4.10	naive B cells			76.80	76.30 - 84.90	Normal
4.10	alpha-beta T cells			90.20	31.00 - 99.99	Normal
4.10	marginal zone B cells			5.40	4.10 - 9.00	Normal
4.10	class switched memory B cells			10.90	3.30 - 7.40	High
4.10	B cells	1403	402 - 784	15.60	13.40 - 21.10	High
4.20	naive CD4 T cells			72.90	52.00 - 92.00	Normal
4.20	Naive CD8+ T cells			38.10	19.00 - 99.99	Normal
4.20	central memory CD8 T cells			7.54	1.00 - 9.00	Normal
4.20	alpha-beta double-negative T cells			0.52	1.00 - 7.00	Low
4.20	class-switched plasmablasts			2.06	0.60 - 4.00	Normal
4.20	Effector memory CD8 T cells			26.60	10.00 - 55.00	Normal
4.20	Effector memory CD8 TEMRA			27.70	6.00 - 83.00	Normal
4.20	plasmablasts			0.45	0.10 - 4.00	Normal
4.20	naive B cells			83.30	76.30 - 84.90	Normal
4.20	marginal zone B cells			4.00	4.10 - 9.00	Low
4.20	Effector memory CD4 T cells			10.90	0.26 - 9.00	High
4.20	central memory CD4 T cells			8.92	15.00 - 56.00	Low
4.20	B cells	620	402 - 784	11.70	13.40 - 21.10	Normal
4.20	class switched memory B cells			7.45	3.30 - 7.40	High
4.20	alpha-beta T cells			80.40	31.00 - 99.99	Normal
4.20	gamma-delta T cells			13.30	0.92 - 38.00	Normal
4.20	CD21-/low B cells			3.52	1.80 - 5.20	Normal
4.20	CD8 T cells	632	200 - 1800	19.80	9.00 - 49.00	Normal
4.20	NK cells	740	180 - 510	20.90	6.00 - 21.00	High
4.20	CD4 T cells	2064	500 - 2700	64.60	25.00 - 66.00	Normal
5.10	marginal zone B cells			13.50	4.10 - 9.00	High
5.10	plasmablasts			0.91	0.10 - 4.00	Normal
5.10	CD21-/low B cells			6.92	1.80 - 5.20	High
5.10	Effector memory CD8 TEMRA			20.20	6.00 - 83.00	Normal
5.10	central memory CD4 T cells			17.50	15.00 - 56.00	Normal
5.10	B cells			22.00	13.40 - 21.10	High
5.10	naive B cells			67.70	76.30 - 84.90	Low
5.10	CD4 T cells			67.00	25.00 - 66.00	High
5.10	gamma-delta T cells			7.98	0.92 - 38.00	Normal
5.10	Effector memory CD8 T cells			25.00	10.00 - 55.00	Normal
5.10	Effector memory CD4 T cells			11.10	0.26 - 9.00	High
5.10	alpha-beta T cells			38.90	31.00 - 99.99	Normal
5.10	class switched memory B cells			10.80	3.30 - 7.40	High
5.10	alpha-beta double-negative T cells			0.17	1.00 - 7.00	Low
5.10	Naive CD8+ T cells			43.60	19.00 - 99.99	Normal
5.10	naive CD4 T cells			70.20	52.00 - 92.00	Normal
5.10	transitional B cells			0.21	3.10 - 12.00	Low
5.10	CD8 T cells			24.30	9.00 - 49.00	Normal
5.10	central memory CD8 T cells			11.30	1.00 - 9.00	High
5.10	T-reg cells			6.00	3.00 - 17.00	Normal
5.10	class-switched plasmablasts			0.56	0.60 - 4.00	Low
5.10	NK cells			26.20	6.00 - 21.00	High
5.20	class-switched plasmablasts			0.31	0.60 - 4.00	Low
5.20	NK cells			27.00	6.00 - 21.00	High
5.20	T-reg cells			3.09	3.00 - 17.00	Normal
5.20	alpha-beta T cells			80.30	31.00 - 99.99	Normal
5.20	central memory CD4 T cells			31.60	15.00 - 56.00	Normal
5.20	Effector memory CD4 T cells			21.90	0.26 - 9.00	High
5.20	B cells			11.30	13.40 - 21.10	Low
5.20	gamma-delta T cells			5.16	0.92 - 38.00	Normal
5.20	alpha-beta double-negative T cells			3.60	1.00 - 7.00	Normal
5.20	class switched memory B cells			6.85	3.30 - 7.40	Normal
5.20	naive CD4 T cells			42.80	52.00 - 92.00	Low
5.20	transitional B cells			8.08	3.10 - 12.00	Normal
5.20	CD8 T cells			29.00	9.00 - 49.00	Normal
5.20	Naive CD8+ T cells			56.60	19.00 - 99.99	Normal
5.20	central memory CD8 T cells			8.51	1.00 - 9.00	Normal
5.20	Effector memory CD8 T cells			19.80	10.00 - 55.00	Normal
5.20	Effector memory CD8 TEMRA			15.10	6.00 - 83.00	Normal
5.20	CD21-/low B cells			3.42	1.80 - 5.20	Normal
5.20	naive B cells			83.30	76.30 - 84.90	Normal
5.20	marginal zone B cells			2.72	4.10 - 9.00	Low
5.20	plasmablasts			0.18	0.10 - 4.00	Normal
5.20	CD4 T cells			52.60	25.00 - 66.00	Normal

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
1.00	CRP	246	0 - 10 mg/L	High
3.33	IgA	11	22 - 146 mg/dL	Low
3.33	Hb	100	115 - 156 g/L	Low
3.33	IgM	3	40 - 180 mg/dL	Low
3.33	BR	2	1 - 12 mg/L	Normal
3.33	LDH	346	500 - 920 IU/L	Low
3.33	IgG	28	464 - 1240 mg/dL	Low
3.42	BR	2	1 - 12 mg/L	Normal
3.42	Vit.B12	293	211 - 946 pg/ml	Normal
3.42	ALB	23	37 - 55 g/L	Low
3.42	Fr	313	7 - 140 ng/ml	High
3.42	MCH	28	24 - 30 pg	Normal
3.42	Hb	98	115 - 156 g/L	Low
3.42	MCV	90	75 - 87 fL	High
3.42	Hct	32	34 - 40 %	Low
3.42	LDH	254	500 - 920 IU/L	Low
3.42	ESR	67	0 - 10 mm/hr	High
3.42	MPV	9	7 - 10 fL	Normal
3.42	MCHC	307	320 - 360 g/L	Low
3.42	CRP	27	0 - 10 mg/L	High
3.50	MCHC	312	320 - 360 g/L	Low
3.50	MCV	74	75 - 87 fL	Low
3.50	Hct	30	34 - 40 %	Low
3.50	LDH	305	500 - 920 IU/L	Low
3.50	MCH	23	24 - 30 pg	Low
3.50	ESR	104	0 - 10 mm/hr	High
3.50	Fr	164	7 - 140 ng/ml	High
3.50	Hb	93	115 - 156 g/L	Low
3.50	IgM	12	40 - 180 mg/dL	Low
3.50	IgG	163	464 - 1240 mg/dL	Low
3.50	ALB	20	37 - 55 g/L	Low
3.50	IgA	5	22 - 146 mg/dL	Low
3.50	BR	0	1 - 12 mg/L	Low
4.08	IgA	14	22 - 146 mg/dL	Low
4.08	ESR	37	0 - 10 mm/hr	High
4.08	Fr	40	7 - 140 ng/ml	Normal
4.08	IgG	108	464 - 1240 mg/dL	Low
4.08	MPV	9	7 - 10 fL	Normal
4.08	Fe	4	11 - 30 umol/L	Low
4.08	MCHC	297	320 - 360 g/L	Low
4.08	IgM	29	40 - 180 mg/dL	Low
4.08	Hct	31	34 - 40 %	Low
4.08	SAA	21	0 - 7 mg/L	High
4.08	ALB	23	37 - 55 g/L	Low
4.08	Hb	92	115 - 156 g/L	Low
4.08	MCV	78	75 - 87 fL	Normal
4.08	CRP	3	0 - 10 mg/L	Normal
4.08	MCH	23	24 - 30 pg	Low
4.08	IgE	1	0 - 60 IU/ml	Normal
4.08	LDH	1173	470 - 900 IU/L	High

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* Measured during IVIG or other treatment.

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	Cell morphology	aberrant	T cells	IF	Basal	849
Unk.	Proportion of IFNa+ cells	increased	CD4 T cells	FCA	anti-CD3/CD28	849
Unk.	Proportion of IFNg+ cells	normal	CD8 T cells	FCA	anti-CD3/CD28	849
Unk.	Proportion of IL-2+ cells	normal	CD8 T cells	FCA	anti-CD3/CD28	849
Unk.	Transendothelial migration	📊 decreased	T cells	CMA	Basal	849
Unk.	DOCK11 protein expression	normal	T cells	WB	Basal	849
Unk.	Cdc42 activity	📊 absent	EBV-LCL	WB	CCL19	849
Unk.	Filopodia formation	📊 decreased	T cells	IF	Basal	849
Unk.	under agarose migration	📊 increased	CD8 T cells	CMA	Basal	849
Unk.	Proportion of TNF-alpha+ cells	normal	CD8 T cells	FCA	anti-CD3/CD28	849
Unk.	Proportion of IL-4+ cells	decreased	CD4 T cells	FCA	anti-CD3/CD28	849

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* Compared to WT controls
📊 shows raw values on hover