Information on subject 101095

Basic details

Sex: Male

Country: Germany

Population:

Family ID: 210286

Father:

Mother:

Consanguinity: No

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
CASP10	I406L	EX9	c.1216A>T	p.Ile406Leu	missense_variant	Likely Benign	HET	Unassigned

Age	Sign/Symptom	Present?	Presentation
Unk.	Hypogammaglobulinemia	Yes
0.42	Decreased IgA levels	Yes
0.42	Decreased IgG levels	Yes
21.23	Decreased IgM levels	Yes
0.42	Reduced number of B cells	Yes
4.00	Splenomegaly	Yes
Unk.	Enteropathy	Yes
3.50	Bronchitis	Yes	chronic
22.00	Vitamin D deficiency	Yes
Unk.	Granulomatosis	Yes
0.42	Reduced proportion of CD4 T cells	Yes
6.76	Otitis media	Yes	recurrent
19.53	Atopic dermatitis	Yes
0.42	Reduced NK cell number	Yes
22.00	Osteoporosis	Yes
19.53	Parotitis	Yes	recurrent
18.59	Antinuclear antibodies	No
18.59	Rheumatoid factor positive	No
Unk.	short stature	Yes
3.50	Bronchiectasis	Yes
3.00	ulcerative colitis	Yes
4.00	Hepatomegaly	Yes
1.00	Celiac disease	Yes
20.00	Hypogonadotrophic hypogonadism	Yes
19.53	Lichen Planus	Yes
0.45	Recurrent fevers	Yes

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result

* 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