Background
Results
Mutation screening
Basal urine osmolality | Urine osmolality response to AVP or dDAVP | Plasma osmolality | |
---|---|---|---|
IV-1 | 102 | 102→171 | NA |
IV-2 | 30 | 30→26 | NA |
IV-4 | 100 | 100→125 | 308 |
Characteristics of immune function
III-3 32 yr | III-4 29 yr | IV-4 5 yr | Normal range (adult) | Normal range (children) | |
---|---|---|---|---|---|
CD3+ [%] | 74.3 | 68.9 | 85.9 | 55–78 | 55–83 |
CD4+/CD3+ [%] | 54.9 | 17.7 | 69.6 | 28–57 | 27–53 |
CD8+/CD3+ [%] | 34.5 | 61.8 | 14 | 10–39 | 19–34 |
CD4/CD8 | 1.6 | 0.3 | 5 | 1.0–3.6 | 0.9–2.6 |
CD19+ [%] | 5.2 | 5.7 | 6.7 | 6–19 | 10–31 |
IgG (mg/dl) | 810.0 | 741.0 | 754.0 | 870–1700 | 600–1450 |
IgA (mg/dl) | 147.0 | 72.0 | 105.0 | 110–410 | 39–233 |
IgM (mg/dl) | 59.0 | 127.0 | 72.0 | 33–190 | 69–268 |
TREC/μgDNA | 1.9 × 102
| 2.8 × 102
| 1.6 × 103
| 3.4 ± 3.6 × 102
| 3.5 ± 2.8 × 103
|
Microarray analysis
Gene Name | Description |
aFold change |
b q value |
cAccession |
---|---|---|---|---|
Up-regulation | ||||
PLK3 | Polo-like kinase 3 | 4.35 | 0.0402 | NM_004073 |
NHSL2 | NHS-like 2 | 2.38 | 0.0453 | NM_001013627 |
PTAFR | Platelet-activating factor receptor | 2.27 | 0.0288 | NM_000952 |
KLHL26 | Kelch-like 26 | 1.99 | 0.0272 | NM_018316 |
MAPKAPK2 | Mitogen-activated protein kinase- activated protein kinase 2 | 1.96 | 0.0442 | NM_032960 |
CKAP4 | Cytoskeleton-associated protein 4 | 1.85 | 0.0272 | NM_006825 |
CYB5R3 | Cytochrome b5 reductase 3 | 1.82 | 0.0328 | NM_007326 |
ZC3H12A | Zinc finger CCCH-type containing | 1.81 | 0.0428 | NM_025079 |
FURIN | Furin | 1.79 | 0.0448 | NM_002569 |
GRN | Granulin | 1.76 | 0.0453 | NM 002087 |
PPOX | Protoporphyrinogen oxidase | 1.75 | 0.0307 | NM_000309 |
NQO2 | NAD(P)H dehydrogenase, quinone 2 | 1.74 | 0.0453 | NM_000904 |
DPH3 | Diphthamide biosynthesis protein 3 | 1.70 | 0.0307 | NM_206831 |
PGD | Phosphogluconate dehydrogenase | 1.68 | 0.00562 | NM_002631 |
RIPK5 | Receptor interacting protein kinase 5 | 1.66 | 0.0386 | NM_015375 |
CD14 | CD14 molecule | 1.62 | 0.0272 | NM_000591 |
PGD | Phosphogluconate dehydrogenase | 1.57 | 0.0272 | NM_002631 |
Down-regulation | ||||
TUSC4 | Tumor suppressor candidate 4 | 0.63 | 0.0453 | NM_006545 |
PLEKHG4 | Pleckstrin homology domain containing, family G (with RhoGef | 0.62 | 0.0272 | NM_015432 |
SFXN1 | Sideroflexin 1 | 0.61 | 0.0272 | NM_022754 |
GNRH1 | Gonadotropin-releasing hormone 1 | 0.60 | 0.0328 | NM_000825 |
PPP1R3E | Protein phosphatase 1, regulatory | 0.60 | 0.0383 | XM_940069 |
MC1R | Melanocortin 1 receptor | 0.56 | 0.0272 | NM_002386 |
LRCH4 | Leucine-rich repeats and calponin homology (CH) domain containing 4 | 0.55 | 0.0411 | NM_002319 |
LOC642787 | Hypothetical protein LOC642787 | 0.44 | 0.0288 | XM_926202 |
SGPP2 | Sphingosine-1-phosphate phosphotase | 0.09 | 0.0307 | XM_938742 |
BNIPL | BCL2/adenovirus E1B 19 kD | 0.06 | 0.0226 | NM_138278 |
ARHGAP4 | Rho GTPase activating protein 4 | 0.00 | 0.000567 | NM_001666 |
Gene Name | Description |
aFold change |
bq value |
cAccession |
---|---|---|---|---|
ARHGAP1 | Rho GTPase activating protein 1 | 0.83 | 0.473 | NM_004308 |
ARHGAP9 | Rho GTPase activating protein 9 | 1.23 | 0.473 | NM_032496 |
ARHGAP10 | Rho GTPase activating protein10 | 1.01 | 0.914 | NM_024605 |
ARHGAP12 | Rho GTPase activating protein 12 | 1.03 | 0.655 | NM_018287 |
ARHGAP17 | Rho GTPase activating protein 17 | 0.67 | 0.473 | NM_018054 |
ARHGAP19 | Rho GTPase activating protein 19 | 1.16 | 0.473 | NM_032900 |
ARHGAP21 | Rho GTPase activating protein 21 | 0.98 | 0.655 | NM_020824 |
ARHGAP24 | Rho GTPase activating protein 24 | 1.33 | 0.891 | NM_001025616 |
ARHGAP25 | Rho GTPase activating protein 25 | 0.90 | 0.565 | NM_001007231 |
ARHGAP25 | Rho GTPase activating protein 25 | 0.93 | 0.83 | NM 014882 |
ARHGAP27 | Rho GTPase activating protein 27 | 0.81 | 0.473 | NM_199282 |
ARHGAP30 | Rho GTPase activating protein 30 | 1.16 | 0.473 | NM_001025598 |
ARHGAP30 | Rho GTPase activating protein 30 | 0.86 | 0.565 | NM_181720 |
BM046 | Rho GTPase activating protein 15 | 0.92 | 0.655 | NM 018460 |
CDGAP | Cdc42 GTPase-activating protein | 0.86 | 0.891 | NM 020754 |
CENTD2 | Centaurin, delta 2 | 1.26 | 0.473 | NM_139181 |
CENTD3 | Centaurin, delta 3 | 1.12 | 0.655 | NM_022481 |
GMIP | GEM interacting protein | 1.17 | 0.473 | NM_016573 |
MYO9B | Myosin IXB | 1.20 | 0.473 | NM_004145 |
OCRL | Oculocerebrorenal syndrome of Lowe | 1.00 | 0.655 | NM_000276 |
PIK3R1 | Phosphoinositide-3-kinase, regulatory | 0.94 | 0.571 | NM_181504 |
PIK3R2 | Phosphoinositide-3-kinase, regulatory subunit 2 (beta) | 0.86 | 0.655 | NM_005027 |
RACGAP1 | Rac GTPase activating protein 1 | 0.83 | 0.473 | NM 013277 |
RALBP1 | RalA binding protein 1 | 0.84 | 0.565 | NM_006788 |