Information on subject 104886

Basic details

Sex: Female

Country: U.S.A.

Population: Caucasian

Family ID: 215613

Father: 104891

Mother: 104889

Consanguinity: No

Clin. status: Affected

Age of death: 24.0

Ref.ID & pub.codes

2015 [449] Fam.1:III.6(III.6)
2018 [112] Fam.G:III.1(G.III.1 (26))
2022 [1271] G.III.1 (26)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CHAI	CTLA4 haploinsufficiency with autoimmune infiltration	AD	24.00	12.00	Definitive

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
CTLA4	Y60C	EX2	c.179A>G	p.Tyr60Cys	missense_variant	Pathogenic	HET	Yes, alone
CTLA4	T17A	EX1	c.49A>G	p.Thr17Ala	missense_variant	Uncertain significance	HET	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
13.00	Diarrhea	Yes	severe	chronic
Unk.	Hypogammaglobulinemia	Yes
Unk.	Decreased IgA levels	Yes
Unk.	Recurrent upper respiratory tract infection	Yes
Unk.	Reduced number of B cells	Yes
Unk.	Splenomegaly	Yes
Unk.	Abnormal lymphoproliferation	Yes
Unk.	Autoimmune cytopenia	Yes
Unk.	Enteropathy	Yes
Unk.	Arthritis	Yes
Unk.	Pneumonia	Yes
24.00	Pneumonia	Yes	fatal	acute
13.00	Gastritis	Yes	severe	chronic
Unk.	Sinusitis	Yes		chronic
13.00	Colitis	Yes	severe	chronic
Unk.	Hypothyroidism	Yes
Unk.	Reduced NK cell number	Yes
13.00	Villous atrophy	Yes
Unk.	Autoimmune neutropenia	Yes
Unk.	Mucocutaneous candidiasis	Yes
Unk.	Hepatopathy	Yes
Unk.	Septicaemia	Yes		recurrent
Unk.	Type I diabetes mellitus	Yes
Unk.	Interstitial lung disease	Yes
Unk.	Nervous system abnormality	Yes
Unk.	Respiratory system abnormality	Yes
Unk.	Granulomatous-lymphocytic interstitial lung disease	Yes
24.00	Renal insufficiency	Yes	fatal	acute
Unk.	Encephalopathy	Yes
Unk.	Herpes Simplex Virus Infection	Yes
Unk.	Hepatomegaly	Yes
13.00	Duodenitis	Yes	moderate	chronic
Unk.	Growth delay	Yes		chronic
Unk.	Crohn's disease	Yes
13.00	Crohn's disease	Yes	moderate	chronic
Unk.	Cachexia	Yes
Unk.	Varicella zoster virus infection	Yes		recurrent
Unk.	(unusual) Fungal infection	Yes		recurrent
13.00	Ileitis	Yes	severe	chronic
Unk.	Pure red cell aplasia	Yes		recurrent
13.00	Abdominal pain	Yes		chronic
Unk.	Primary sclerosing cholangitis	Unclear
Unk.	Brain lymphocytic infiltration	Yes
Unk.	Hepatosplenomegaly	Yes
Unk.	Cardiomegaly	Yes
Unk.	Abnormal pleura morphology	Yes
Unk.	Atrophic gastritis	Yes
Unk.	(unusual) Bacterial infection	Yes
Unk.	Adrenocortical hypoplasia	Yes
24.00	Renal tubular epithelial necrosis	Yes	fatal	acute
Unk.	Clostridium difficile colitis	Yes		recurrent
24.00	Methicillin-resistant S. aureus infection	Yes	fatal	acute
24.00	Septic embolism	Yes	severe	acute
24.00	Acute respiratory distress syndrome	Yes	fatal	acute
Unk.	Pancreatic steatosis	Yes
Unk.	Bone marrow lymphocytic infiltration	Yes
24.00	Septic Shock	Yes	fatal	acute
Unk.	Multiple Sclerosis	Yes

Cell counts

Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
B cells	2	110 - 570	1.00	6.00 - 23.00	Low*
Eosinophils			1.00	2.00 - 3.00	Low*
CD4 T cells	212	530 - 1500	56.00	28.00 - 52.00	Low*
CD8 T cells	101	330 - 1100	26.00	18.00 - 35.00	Low*
Neutrophils	2	3 - 6	73.00	50.00 - 78.00	Low*
Monocytes			13.00	4.00 - 7.00	High*
NK cells	43	70 - 480	11.00	3.00 - 22.00	Low*
Leukocytes	3	6 - 9			Low*
Lymphocytes	1	1 - 2	14.00	10.00 - 38.00	Normal*
T cells	330	1000 - 2000	85.00	56.00 - 84.00	Low*
Platelets	266000	174000 - 333000			Normal*

* Measured under treatment or HSCT.

Plasma proteins

Molecule[ℹ]	Value	Ref.range	Result
IgA	8	70 - 313 mg/dL	Low*
IgM	4	40 - 240 mg/dL	Low*
IgG1	488	422 - 1292 mg/dL	Normal*
IgG2	307	117 - 747 mg/dL	Normal*
IgG3	30	41 - 129 mg/dL	Low*
IgG4	4	10 - 67 mg/dL	Low*
Hb	12	11 - 13 g/L	Normal*
Hct	37	32 - 39 %	Normal*

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

Phenotypic & functional assays

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

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* Compared to WT controls
📊 shows raw values on hover