Information on subject 105567

Basic details

Sex: Male

Country: Turkey

Population: Turkish

Family ID: 215808

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	16.00	0.02	Definitive

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
LRBA	I965Afs*32	EX23	c.2893_2901delinsGCCAGATATATAT	p.Ile965AlafsTer32	frameshift_variant	Pathogenic	HOM	Yes, alone

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Recurrent upper respiratory tract infection	Yes
Unk.	Splenomegaly	Yes
Unk.	Pneumonia	Yes	severe
Unk.	Colitis	Yes
Unk.	Septicaemia	Yes
Unk.	Bronchiectasis	Yes
Unk.	Growth delay	Yes
Unk.	Hypogonadism	Yes
Unk.	Delayed puberty	Yes
Unk.	(unusual) Cytomegalovirus infection	Yes
Unk.	Bloody diarrhea	Yes		chronic

Age	Cell_type	Cells/ul	Ref.range	Result
	B cells	15	94 - 793	Low
	CD4 T cells	356	504 - 1777	Low
	T cells	961	1033 - 3305	Low
	NK cells	160	94 - 1175	Normal
	CD8 T cells	471	381 - 1313	Normal
17.90	CD8 T cells	1102	270 - 1255	Normal*
17.90	NK cells	358	100 - 640	Normal*
17.90	T cells	1837	1024 - 2794	Normal*
17.90	B cells	167	87 - 540	Normal*
17.90	CD4 T cells	588	621 - 1632	Low*

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result
	IgA	66	108 - 447 mg/dL	Low
	IgG	647	876 - 2194 mg/dL	Low
	IgM	28	75 - 448 mg/dL	Low
17.90	IgA	28	139 - 378 mg/dL	Low*
17.90	IgG	940	913 - 1884 mg/dL	Normal*
17.90	IgM	61	88 - 322 mg/dL	Low*

[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