Information on subject 106090

Basic details

Sex: Male

Country: Saudi Arabia

Population: Saudi

Family ID: 215946

Father: 106091

Mother: 106092

Consanguinity: Yes

Clin. status: Affected

Age of death: 0.5

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
TIDTA	T-cell immunodeficiency with thymic aplasia	AR	0.34	0.33	Definitive

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
FOXN1	T527*	EX8	c.1579_1580del	p.Thr527Ter	frameshift_variant	Pathogenic	HOM	Yes, alone

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Diarrhea	No		chronic
0.33	Reduced number of B cells	Yes
Unk.	Pneumonia	No
Unk.	B-cell lymphoma	Yes	fatal
Unk.	Thrombocytopenia	Yes
0.33	Lymphadenopathy	Yes
Unk.	Autoimmunity	No
0.33	Alopecia	Yes
Unk.	(unusual) Epstein-Barr virus infection	Yes	fatal
0.33	Reduced T cell count	Yes
Unk.	Failure to thrive	No
0.33	Oral candidiasis	Yes
Unk.	Erythroderma	No
Unk.	BCGosis	No
0.33	Respiratory distress	Yes	severe
Unk.	Epicanthus	No
Unk.	Failure to thrive in infancy	No
0.33	Thymus aplasia	Yes
0.33	Nail dystrophy	Yes
0.33	Persistent fever	Yes
0.33	Neonatal sepsis	Yes	severe

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
0.33	B cells	14		3.00	19.00 - 31.00	Low
0.33	T cells	45		10.00	58.00 - 67.00	Low
0.33	Lymphocytes	380	1500 - 4000	18.00		Low
0.33	NK cells	392		87.00	8.00 - 17.00	High
0.33	CD8 T cells	9		2.00	18.00 - 25.00	Low
0.33	CD4 T cells	4		1.00	38.00 - 50.00	Low

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result

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* Measured during IVIG or other treatment.

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.

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* Compared to WT controls
📊 shows raw values on hover