Information on subject 102509

Basic details

Sex: Male

Country: Ireland

Population: Irish Traveller

Family ID: 214948

Father: 102497

Mother: 102495

Consanguinity: Yes

Clin. status: Affected

Age of death: 14.0

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
IMD54	Immunodeficiency 54	AR	16.00	1.50

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
MCM4	EX3-2A>G	IN2	c.71-2A>G	p.(Phe24ArgfsTer4)	splice_acceptor_variant	Pathogenic	HOM	Yes, alone

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	(unusual) Respiratory tract infection	Yes		chronic
1.50	Splenomegaly	Yes
Unk.	Reduced NK cell number	Yes
1.50	Lymphadenopathy	Yes
Unk.	Reduced proportion of CD8 T cells	Yes
Unk.	Bronchiectasis	Yes
1.50	Hepatomegaly	Yes
5.50	Adrenal insufficiency	Yes
14.00	Respiratory failure	Yes
Unk.	(unusual) Viral infection	Yes		recurrent
Unk.	Global developmental delay	Yes	mild
Unk.	Intrauterine growth retardation	Yes
Unk.	Small for gestational age	Yes
2.75	Lymphoproliferative disorder	Yes
Unk.	Postnatal growth retardation	Yes
2.75	Triggered by EBV infection	Yes
Unk.	Decreased head circumference	Yes

Cell_type	Cells/ul	Ref.range	Result
B cells	538	200 - 2100	Normal
T cells	1850	900 - 4500	Normal
Lymphocytes	2443	1700 - 6900	Normal
NK cells	37	100 - 1000	Low
CD8 T cells	188	300 - 1600	Low
CD4 T cells	1507	500 - 2400	Normal

* 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
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