Information on subject 105533

Basic details

Sex: Male

Country: Portugal

Population: Portuguese

Family ID: 215791

Father: 105534

Mother: 105535

Consanguinity: No

Clin. status: Affected

Age of death: 49.0

Ref.ID & pub.codes

2017 [1014] Patient

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CHAI	CTLA4 haploinsufficiency with autoimmune infiltration	AD	45.00	9.00	Definitive

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
CTLA4	Y127C	EX2	c.380A>G	p.Tyr127Cys	missense_variant	Pathogenic	HET	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
48.00	Diarrhea	Yes		acute
44.00	Decreased IgA levels	Yes
44.00	Decreased IgG levels	Yes
44.00	Decreased IgM levels	No
44.00	Reduced number of B cells	Yes
Unk.	Abnormal lymphoproliferation	Yes
9.00	Autoimmune hemolytic anemia	Yes
9.00	Autoimmune thrombocytopenia	Yes
Unk.	Leukopenia	No
48.00	Abnormal weight loss	Yes	moderate	acute
35.00	Pneumonia	Yes		acute
49.00	Pneumonia	Yes	fatal
44.00	Reduced proportion of CD4 T cells	No
9.00	Otitis media	Yes		recurrent
Unk.	negative ab-response to diphtheria vaccine	Yes
44.00	Reduced NK cell number	Yes
Unk.	Gastrointestinal inflammation	Yes
35.00	Thrombocytopenia	Yes	severe	acute
Unk.	Lymphadenopathy	No
44.00	Vitiligo	Yes
44.00	Lymphopenia	Yes
44.50	Septicaemia	Yes		recurrent
45.00	Septicaemia	Yes
44.00	Antinuclear antibodies	No
44.00	Platelet antibody positive	Yes
44.00	Reduced proportion of CD8 T cells	Yes	moderate
Unk.	Decreased IgE levels	Yes	severe
Unk.	short stature	Yes
49.00	Epididymitis	Yes
44.00	Coombs Test Positive	No
44.00	(unusual) Epstein-Barr virus infection	No
44.00	Hepatitis B	No
44.00	proteinuria	Yes
44.00	Hyperplasia of prostate	Yes
44.00	(unusual) Cytomegalovirus infection	No
Unk.	Unusual infection	Yes
35.00	Hemolytic anemia	Yes		acute
Unk.	Ileitis	Yes	mild
44.00	Hepatitis C	No
44.00	HIV Infection	No
Unk.	Cholecystitis	Yes
44.00	Hepatosplenomegaly	Yes
Early-Adulthood	Intermittent diarrhea	Yes		recurrent
Unk.	Humoral immunodeficiency	Yes
43.00	Avascular necrosis of the capital femoral epiphysis	Yes
44.00	Urethral stricture	Yes
Unk.	Decreased proportion of regulatory T cells	Yes	mild
44.00	Bladder trabeculation	Yes
35.00	Cellulitis	Yes		acute
49.00	Orchitis	Yes
44.00	Duodenal lymphocytosis	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
44.00	B cells	17	90 - 660	2.00	6.00 - 25.00	Low*
44.00	Memory CD8+ T cells	51	15 - 275	66.00	4.00 - 49.00	Normal*
44.00	CD4 memory T cells	130	167 - 670	70.00	15.00 - 69.00	Low*
44.00	Naive CD8+ T cells	38	19 - 508	50.00	6.00 - 84.00	Normal*
44.00	naive CD4 T cells	24	27 - 833	13.00	3.00 - 59.00	Low*
44.00	CD4 T cells	528	410 - 1590	75.00	31.00 - 60.00	Normal*
44.00	CD8 T cells	80	190 - 1140	11.00	13.00 - 41.00	Low*
44.00	NK cells	78	90 - 590	11.00	5.00 - 27.00	Low*
44.00	Leukocytes	8700	4000 - 10000			Normal*
44.00	Lymphocytes	680	1000 - 99999			Low*
44.00	unswitched memory B cells	6	22 - 54	24.00	3.00 - 61.00	Low*
44.00	class switched memory B cells	1	1 - 60			Normal*
44.00	transitional B cells	1	2 - 6			Low*
44.00	naive B cells	4	28 - 550	64.00	42.00 - 82.00	Low*
44.00	T cells	608	690 - 2540	86.00	55.00 - 84.00	Low*
44.00	Platelets	28000	150000 - 450000			Low*

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
44.00	IgA	40	88 - 410 mg/dL	Low*
44.00	IgG	340	640 - 1400 mg/dL	Low*
44.00	IgM	77	34 - 210 mg/dL	Normal*
44.00	IgE	40	1 - 1000 IU/ml	Normal*
44.00	IgD	1	1 - 150 mg/L	Normal*
44.00	Hb	13	14 - 18 g/L	Low*

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* Measured during IVIG or other treatment.

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
45.00	Proportion of Treg cells	📊 decreased	CD4 T cells	FCA	Basal	1014
Unk.	intracellular CTLA-4 expression	📊 decreased	T-reg cells	FCA	Basal	1014
45.00	Proportion of CD25+ cells	📊 decreased	CD4 T cells	FCA	Basal	1014

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* Compared to WT controls
📊 shows raw values on hover