Information on subject 105088

Basic details

Sex: Male

Country: Japan

Population: Japanese

Family ID: 215638

Father: 105089

Mother: 105090

Consanguinity: No

Clin. status: Affected

Age of death: 35.0

Ref.ID & pub.codes

2015 [108] Fam.P:II.3(case)
2016 [984] P21(16)
2018 [112] Fam.M:II.3(37)
2018 [109] M.II.3
2022 [1271] M.II.3 (37)
2022 [1278] 11.1

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CHAI	CTLA4 haploinsufficiency with autoimmune infiltration	AD	35.00	10.00	Definitive

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
CTLA4	L28Sfs*32	EX1	c.75_76insT	p.Leu28SerfsTer32	frameshift_variant	Pathogenic	HET	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
10.00	Diarrhea	Yes	severe	chronic
34.00	Diarrhea	Yes		recurrent
Unk.	Hypogammaglobulinemia	Yes
30.00	Central nervous system abnormality	Yes
Unk.	Decreased IgA levels	Yes
Unk.	Decreased IgG levels	Yes
Unk.	Recurrent lower respiratory tract infections	Yes
Unk.	Recurrent upper respiratory tract infection	Yes
Unk.	Decreased IgM levels	Yes
35.00	Reduced number of B cells	Yes	severe
Unk.	Autoimmune cytopenia	Yes
10.00	Enteropathy	Yes
24.00	Pneumonia	Yes		recurrent
35.00	Reduced proportion of CD4 T cells	Yes
Unk.	Atopic dermatitis	Yes
24.00	Reduced NK cell number	Yes		chronic
35.00	Reduced NK cell number	Yes	severe
23.00	Thrombocytopenia	Yes
23.00	Lymphopenia	Yes		chronic
35.00	Septicaemia	Yes	fatal
33.00	Type I diabetes mellitus	Yes
35.00	Decreased proportion of naive B cells	Yes
24.00	Increased proportion of CD8 T cells	Yes		chronic
24.00	Leukocytosis	Yes
24.00	Anemia	Yes		chronic
Unk.	Esophageal candidiasis	Yes
Unk.	Herpes Simplex Virus Infection	Yes
35.00	Reduced T cell count	Yes	severe
Unk.	Kidney abnormality	Yes
24.00	Pancreatitis	Yes		acute
24.00	Hepatitis	Yes		acute
Unk.	Growth delay	Yes
Unk.	Cachexia	Yes
23.00	Hypoalbuminemia	Yes		chronic
34.00	Hypokalemia	Yes
23.00	Neutrophilia	Yes
23.00	Monocytosis	Yes		recurrent
34.00	Hyponatremia	Yes
28.00	Helicobacter pylori infection	Yes
23.00	Elevated C-reactive protein	Yes		chronic
34.00	Atrophic gastritis	Yes		chronic
35.00	(unusual) Bacterial infection	Yes	severe	recurrent
24.00	Immunodeficiency	Yes
Unk.	Recurrent S. aureus infections	Yes
Unk.	Recurrent E. coli infections	Yes
23.00	Hypocalcemia	Yes
34.00	Hyperglycemia	Yes
35.00	Hypocholesterolemia	Yes
24.00	Elevated circulating creatinine concentration	Yes
24.00	Increased total bilirubin	Yes
28.00	Abnormality of the gastric mucosa	Yes		acute
34.00	Enterocolitis	Yes		recurrent
24.00	Decreased serum complement C3	Yes
34.00	Reduced haptoglobin level	Yes
33.00	Anti-glutamic acid decarboxylase antibody positivity	Yes
35.00	Increased proportion of memory B cells	Yes
35.00	Abnormal proportion of immature B cells	Yes	severe
34.00	Decreased thyroid-stimulating hormone level	Yes
35.00	Abnormal CD4:CD8 ratio	Yes
23.00	Decreased basophil count	Yes		chronic
23.00	Eosinopenia	Yes		chronic
24.00	Abnormal total hemolytic complement activity	Yes		chronic
24.00	Interstitial emphysema	Yes
34.00	Decreased circulating free T4 level	Yes
34.00	Triggered by EBV infection	No
34.00	Gastric adenocarcinoma	Yes
24.00	Peritoneal abscess	Yes
24.00	Hypoamylasemia	Yes
Unk.	Gastrointestinal lymphocytic infiltration	Yes
24.00	Common variable immunodeficiency	Yes
34.00	Anti-CMV antibody positivity	Yes
28.00	CMV-related gastritis	Yes
34.00	Gastric intestinal metaplasia	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
23.24	Lymphocytes			12.00	21.20 - 51.00	Low*
23.25	Neutrophils			76.00	41.20 - 74.70	High*
23.25	Leukocytes	8400	4500 - 9000			Normal*
23.25	CD8 T cells			42.20	22.00 - 54.00	Normal*
23.25	CD4 T cells			45.20	23.00 - 52.00	Normal*
23.25	Monocytes			12.00	3.10 - 8.00	High*
23.25	Eosinophils			0.01	0.20 - 8.40	Low*
23.25	Platelets	27900	148000 - 339000			Low*
23.25	Basophils			0.01	0.20 - 1.80	Low*
23.25	B cells			3.00	6.40 - 23.00	Low*
23.25	T cells			87.50	58.00 - 84.00	High*
24.33	Monocytes			5.10	3.10 - 8.00	Normal*
24.33	Platelets	72000	148000 - 339000			Low*
24.33	NK cells			1.80	4.00 - 33.00	Low*
24.33	Neutrophils			85.00	41.20 - 74.70	High*
24.33	Eosinophils			0.10	0.20 - 8.40	Low*
24.33	CD8 T cells			60.20	22.00 - 54.00	High*
24.33	Basophils			0.30	0.20 - 1.80	Normal*
24.33	CD4 T cells			36.30	23.00 - 52.00	Normal*
24.33	Lymphocytes			9.50	21.20 - 51.00	Low*
24.33	Leukocytes	10500	4500 - 9000			High*
24.33	B cells			0.80	6.40 - 23.00	Low*
24.33	T cells			96.50	58.00 - 84.00	High*
35.67	Eosinophils			0.01	0.20 - 8.40	Low*
35.67	memory B cells			40.00	7.90 - 36.00	High*
35.67	Basophils			0.01	0.20 - 1.80	Low*
35.67	double negative T cells			0.60	1.00 - 5.00	Low*
35.67	NK cells			0.70	4.00 - 33.00	Low*
35.67	B cells			0.38	6.40 - 23.00	Low*
35.67	Platelets	191000	148000 - 339000			Normal*
35.67	Tfh cells			1.10	6.50 - 11.10	Low*
35.67	naive B cells			26.70	38.00 - 80.00	Low*
35.67	transitional B cells			11.50	0.70 - 24.00	Normal*
35.67	Monocytes			11.10	3.10 - 8.00	High*
35.67	Leukocytes	6510	4500 - 9000			Normal*
35.67	Neutrophils			70.60	41.20 - 74.70	Normal*
35.67	Lymphocytes			18.30	21.20 - 51.00	Low*
35.67	CD8 T cells			66.60	22.00 - 54.00	High*
35.67	T cells			91.40	58.00 - 84.00	High*
35.67	gamma-delta T cells			2.00	1.00 - 5.00	Normal*
35.67	CD4 T cells			22.10	23.00 - 52.00	Low*
35.67	naive T cells			8.80	9.00 - 37.00	Low*
35.67	NKT cells			0.02	0.03 - 0.12	Low*

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
23.25	CRP	3	1 - 2 mg/L	High*
23.25	Trg	87	35 - 160 mg/dL	Normal*
23.25	ALT	9	8 - 42 IU/L	Normal*
23.25	C3	89	86 - 160 mg/dL	Normal*
23.25	AST	13	13 - 33 IU/L	Normal*
23.25	C4	26	17 - 45 mg/dL	Normal*
23.25	Cre	9	6 - 11 mg/L	Normal*
23.25	CH50	41	30 - 45 IU/ml	Normal*
23.25	ALP	181	115 - 359 IU/L	Normal*
23.25	CK	31	62 - 287 IU/L	Low*
23.25	Hb	164	132 - 172 g/L	Normal*
23.25	BUN	8	8 - 22 mg/dL	Normal*
23.25	ALB	25	40 - 50 g/L	Low*
24.33	C3	61	86 - 160 mg/dL	Low*
24.33	CH50	30	30 - 45 IU/ml	Normal*
24.33	sIL-2R	19300	188 - 570 IU/ml	High*
24.33	BUN	54	8 - 22 mg/dL	High*
24.33	Trg	137	35 - 160 mg/dL	Normal*
24.33	C4	22	17 - 45 mg/dL	Normal*
24.33	ALP	1977	115 - 359 IU/L	High*
24.33	CK	18	62 - 287 IU/L	Low*
24.33	Cre	19	6 - 11 mg/L	High*
24.33	Hb	103	132 - 172 g/L	Low*
24.33	ALB	30	40 - 50 g/L	Low*
24.33	AST	122	13 - 33 IU/L	High*
24.33	ALT	164	8 - 42 IU/L	High*
24.33	CRP	58	1 - 2 mg/L	High*
35.67	BUN	7	8 - 22 mg/dL	Low*
35.67	CH50	55	30 - 45 IU/ml	High*
35.67	Hb	76	132 - 172 g/L	Low*
35.67	CRP	41	1 - 2 mg/L	High*
35.67	C4	38	17 - 45 mg/dL	Normal*
35.67	ALB	21	40 - 50 g/L	Low*
35.67	C3	86	86 - 160 mg/dL	Normal*
35.67	Cre	69	6 - 11 mg/L	High*
35.67	AST	15	13 - 33 IU/L	Normal*
35.67	ALT	16	8 - 42 IU/L	Normal*
35.67	ALP	980	115 - 359 IU/L	High*

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

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
35.00	Proportion of Treg cells	📊 normal	CD4 T cells	FCA	Basal	108
35.00	Proportion of Treg cells	📊 increased	CD4 T cells	FCA	anti-CD3/CD28	108
35.00	Proportion of CTLA4+ cells	📊 decreased	CD4 T cells	FCA	anti-CD3/CD28, Basal	108

[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover