Information on subject 105563

Basic details

Sex: Female

Country: Turkey

Population: Turkish

Family ID: 215806

Father:

Mother:

Consanguinity: Yes

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CVID8	Immunodeficiency, common variable, 8	AR	18.00	1.00	Definitive

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
LRBA	R2337*	EX46	c.7009C>T	p.Arg2337Ter	stop_gained	Pathogenic	HOM	Yes, alone

Age	Sign/Symptom	Present?	Presentation
1.00	Diarrhea	Yes	chronic
Unk.	Recurrent upper respiratory tract infection	Yes
Unk.	Splenomegaly	Yes
Unk.	Autoimmune thrombocytopenia	Yes
10.00	Autoimmune cytopenia	Yes
1.00	Pneumonia	Yes	recurrent
10.00	Lymphadenopathy	Yes
1.00	Fever	Yes
17.00	Hepatitis B	Yes
Unk.	Mastoiditis	Yes
10.00	Hepatosplenomegaly	Yes

Age	Cell_type	Cells/ul	Ref.range	Result
	B cells	70	87 - 540	Low
	CD4 T cells	433	621 - 1632	Low
	T cells	734	1024 - 2794	Low
	NK cells	61	100 - 640	Low
	CD8 T cells	184	270 - 1255	Low
18.60	CD8 T cells	203	270 - 1255	Low*
18.60	NK cells	65	100 - 640	Low*
18.60	T cells	405	1024 - 2794	Low*
18.60	B cells	70	87 - 540	Low*
18.60	CD4 T cells	170	621 - 1632	Low*

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result
	IgA	32	139 - 378 mg/dL	Low
	IgG	794	913 - 1884 mg/dL	Low
	IgM	114	88 - 322 mg/dL	Normal
18.60	IgA	49	139 - 378 mg/dL	Low*
18.60	IgG	1110	913 - 1884 mg/dL	Normal*
18.60	IgM	190	88 - 322 mg/dL	Normal*

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

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	LRBA protein expression	absent	PBMCs	WB	Basal	948

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* Compared to WT controls
📊 shows raw values on hover