V.16
Status
Patient
Positive for XIAP
Not tested
mutation
V.19
V.20
V.22
V.24
II.2
III.4
IV.6
IV.8
IV.9
IV.10
V.23
Patient
Patient
Patient
Patient
Carrier
Carrier
Carrier
Carrier
Carrier
Carrier
Carrier
Not tested
yes
yes
yes
yes
Not tested
Not tested
yes
yes
yes
yes
yes
Deceased
age 2 years
(short acute
illness)
Deceased
age 78 years
(stroke)
Alive
91 years
Alive
67 years
Alive
62 years
Alive
57 years
Alive
47 years
Alive
27 years
?HLH
Not known
None
EN
EN
EN; IBD colitis,
None
biopsy proven
Fluctuating
constipation
and diarrhea,
abdominal
pain and
bloody stools
with mucus.
Symptoms
have ceased
within last
couple of
years having
had no
treatment.
Onset of IBD,
diagnosed as
distal colitis on
biopsy;
treatment with
steroids.
Continued to
experience
frequent
symptoms of
high frequency
diarrhea,
bloody stools
with mucus,
these have
subsided
recently (over
last year),
without
treatment.
Age and cause
of death
Alive
31 years
Deceased
age 16 years
(fulminant
colitis)
Alive
41 years
Alive
32 years
Deceased
age 12 years
(post-BMT:
acute renal
failure and
progressive
multifocal
encephalopathy, VZV,
HHV6, JC and
BK PCR+ in
CSF)
Major
manifestations
IBD
IBD
IBD
Skin, lungs
IBD
Onset of
symptoms first
month of life:
green, bloody
stools,
recurrent
episodes of
diarrhoea
alternated with
constipation
during first 18
months.
Gastrointestinal
Numerous
hospital
admissions,
colectomy with
ileostomy age
17; further
surgical
procedure age
24, GI
symptoms
continue to
flare up
V.25
Patient
Onset of
symptoms in
early
childhood.
Onset of
symptoms age
12; terminal
ileitis and
None
colitis; total
colectomy age
16; well since
Onset of
symptoms 3
years;
extremely
severe,
ulcerative
None
gastritis and
pancolitis with
cryptitis on
biopsy.
None
Diverticular
disease
None
diagnosed age
80.
None
Constipation
and abdominal
pains as a
child.
Diagnosed
with IBS midtwenties
None
(symptoms of
constipation,
bloating,
nausea and
mucus in
stools)
V.16
Skin
Recurrent
infections
(other)
(Partial) HLH
Boils
No
No
Azathioprine
Medical therapy and anti-TNF
for IBD
V.19
V.20
V.22
V.24
V.25
Boils
Warts, boils,
Acne,
folliculitis
EN
No
Since late
teens: chronic
sinusitis,
recurrent chest
infections, no
bronchiectasis;
currently well
on prophylactic
antibiotics
Well until 6
months ago:
Persistent
chest infection
(sputum + for
Haemophilus
influenzae and
Pseudomonas)
On antibiotics
Yes, recurrent
respiratory
No
tract infections
and otitis
No
Age 16 years,
one isolated
episode of
high fever and
abdominal
No
pain
hospitalisation
and
laparoscopy
No
Steroids,
immunesuppression
Steroids; on
prophylactic
antibiotics
currently,
imiquimod for
warts
Antibiotics.
none
Yes, likely
secondary to
acute
Adenoviral
infection,
cause of
death.
II.2
III.4
IV.6
IV.8
IV.9
IV.10
V.23
EN
One episode
of EN in her
50ties
EN
One episode
age 20
EN
Onset age 11
years;
symptomatic
until 30ties
No EN since
EN
Age 18,
hospitalised;
EN
Appx 6 further
onset: 20ties; major episode
has
but recurrent
None
experienced
minor
several
episodes
episodes since Age 37
Sweet’s
syndrome
vasculitis
No
No
No
No
No
No
No
N/A
N/A
N/A
N/A
N/A
N/A
N/A
Not known
Not known
Not known
Not known
Not known
Not known
TPN, Steroids,
anti-TNF
agents,
immunesuppression
(cyclosporine,
Antibiotics
MMF);
during the
Not known
Peripheral
acute episode
blood MUD
BMT (age 10),
complicated by
GvHD
JC-specific Tcell infusion.
None
V.16
EBV status
Other
Not known
V.19
Not known
V.20
VCA and
EBNA IgG
positive
EBV PCR
4222 cp/ml
Epidermolysis
bullosa
dystrophica
V.22
EBNA IgG
positive
EBV PCR
negative
V.24
V.25
EBV VCA IgG
negative until
2011. EBV
PCR negative
until
Not known
September
2011, positive
for 2/12,
negative
afterwards.
II.2
Not known
III.4
Not known
IV.6
Not known
IV.8
Not known
IV.9
Not known
Sweet’s
syndrome and
vasculitis age
36 years;
episcleritis with
recurrent
flares;
Age 46 Breast
cancer, Tx with
lumpectomy,
CHT and
radiotherapy
IV.10
Not known
V.23
Not known