Phenotypic Mutations

848 mutations affecting 361 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 850] per page Full List
 
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1 UTSW Ikzf1 0.000 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (19;147) excellent candidate 2020-05-29
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - increased
 FACS T cells - increased
C ⇒ T nonsense probably null
2 UTSW Inpp5d 0.919 1 87620312-87720507 bp (+) 87699675 Autosomal Recessive (77;603)
 Autosomal Semidominant (3;24)
excellent candidate 2020-05-29
Thomas Gallagher
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
T ⇒ A missense probably damaging 0.999
3 UTSW Inpp5d 0.919 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
 Autosomal Semidominant (4;19)
excellent candidate 2020-05-29
Thomas Gallagher
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
G ⇒ A critical splice donor site 1 bp probably null
4 UTSW Inpp5d 0.919 1 87620312-87720507 bp (+) 87715142 Autosomal Recessive (1;8) good candidate (Recruited) 2020-05-29
Thomas Gallagher
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
C ⇒ A missense probably damaging 0.998
5 UTSW Inpp5d 0.919 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (1;5)
 Autosomal Recessive (2;15)
excellent candidate 2020-05-29
Thomas Gallagher
 FACS NK cells - decreased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 1.000
6 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (13;82)
 Autosomal Semidominant (3;16)
excellent candidate 2020-05-12
External Program
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK T cells - increased
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to poly I:C
 TLR signaling defect: hypersensitivity to R848
T ⇒ A critical splice donor site probably null
7 UTSW Pik3r1 0.000 13 101680563-101768217 bp (-) 101702776 Unknown (3;0)
 Autosomal Recessive (3;18)

 Autosomal Semidominant (1;4)
excellent candidate 2020-02-14
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 FACS CD4+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 IgE response to a Cysteine Protease (Papain) - increased
 OVA-specific IgE - increased
A ⇒ T nonsense probably null
8 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (6;34)
 Autosomal Semidominant (1;6)
excellent candidate 2020-02-04
External Program
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
9 UTSW Lrba 0.000 3 86224680-86782692 bp (+) 86350304 Autosomal Recessive (2;15) excellent candidate 2020-02-04
External Program
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD11c+ DCs - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
C ⇒ T nonsense probably null
10 UTSW Jak3 0.747 8 71676296-71690575 bp (+) 71685383 Unknown (2;0)
 Autosomal Recessive (31;312)

 Autosomal Semidominant (1;4)
excellent candidate 2020-01-15
Eva Marie Y. Moresco
 Body Weight (DSS Female) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
 IgE response to a Cysteine Protease (Papain) - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
A ⇒ T critical splice acceptor site probably null
11 UTSW Syk 1.000 13 52583173-52648792 bp (+) 52640790 Unknown (4;0)
 Autosomal Dominant (1;6)
potential candidate 2020-01-15
Eva Marie Y. Moresco
 FACS B cells - increased
 IgE response to a Cysteine Protease (Papain) - increased
A ⇒ G missense probably damaging 1.000
12 UTSW Lig4 1.000 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
 Autosomal Semidominant (2;8)
excellent candidate 2019-12-05
External Program
 FACS B cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ C missense probably damaging 1.000
13 UTSW
has photohas video
Ctsl 1.000 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (12;261) good candidate 2019-11-12
Thomas Gallagher
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS T cells - decreased
T ⇒ A nonsense probably null
14 UTSW Cd4 0.000 6 124864692-124888221 bp (-) 124867746 Unknown (7;0) no linkage results 2019-11-12
Bruce Beutler
 FACS CD4+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A nonsense probably null
15 UTSW Pparg 1.000 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
 Autosomal Dominant (5;20)
potential candidate 2019-11-06
Bruce Beutler
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (DSS, z-score) - decreased
 Body Weight (Z-score) - decreased
G ⇒ T missense probably damaging 1.000
16 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
 Autosomal Recessive (1;7)

 Autosomal Semidominant (1;3)
excellent candidate 2019-10-29
Diantha La Vine
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS NK cells - decreased
T ⇒ C missense probably damaging 1.000
17 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11879496 Autosomal Recessive (4;16)
 Autosomal Semidominant (3;23)
no Linkage result 2019-10-29
Anne Murray
G ⇒ T missense probably damaging 0.998
18 UTSW Klhl6 0.079 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
 Autosomal Semidominant (6;41)
excellent candidate 2019-10-25
Bruce Beutler
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
G ⇒ A nonsense probably null
19 UTSW Il2rb 0.110 15 78479256-78495271 bp (-) 78481936 Autosomal Recessive (1;4) excellent candidate (Recruited) 2019-10-23
Diantha La Vine
 total IgE level - increased
T ⇒ A missense possibly damaging 0.721
20 UTSW
has video
Myo15 0.000 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
 Autosomal Recessive (1;5)
not good candidate 2019-10-23
Anne Murray
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
21 UTSW
has video
Pcdh15 0.000 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10)
 Autosomal Semidominant (2;9)
potential candidate 2019-10-23
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 OVA-specific IgE after 2nd OVA/Alum - increased
G ⇒ T splice site probably null
22 UTSW Prkcd 0.616 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;9)
excellent candidate 2019-10-23
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS NK cells - decreased
A ⇒ G start codon destroyed probably null 0.988
23 UTSW Syk 1.000 13 52583173-52648792 bp (+) 52640733 Unknown (2;0)
 Autosomal Dominant (2;2)

 Autosomal Recessive (2;2)


 Autosomal Semidominant (1;3)
failed initial filter 2019-10-23
Anne Murray
 FACS B cells - decreased
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to MALP2
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 1.000
24 UTSW Prkce 0.000 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) not good candidate 2019-10-23
Anne Murray
 FACS NK cells - decreased
C ⇒ T missense probably damaging 0.997
25 UTSW Dst 0.208 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
T ⇒ A splice site 9 bp probably null
26 UTSW Zbtb1 0.754 12 76370266-76396950 bp (+) 76385891 Autosomal Recessive (1;6)
 Autosomal Semidominant (2;10)
potential candidate 2019-10-23
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS NK T cells - increased
C ⇒ T missense probably damaging 0.965
27 UTSW Ptpn6 0.499 6 124720707-124738714 bp (-) 124721789 Autosomal Dominant (1;5)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (1;5)
not good candidate (Recruited) 2019-10-23
Anne Murray
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ T MFI - increased
T ⇒ C missense probably benign 0.423
28 UTSW Trpc1 0.161 9 95705082-95750375 bp (-) 95726437 Autosomal Recessive (3;14)
 Autosomal Semidominant (5;29)
excellent candidate 2019-10-23
Diantha La Vine
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
T ⇒ C missense probably damaging 1.000
29 UTSW Nlrc4 0.110 17 74426295-74459108 bp (-) 74445630 Autosomal Semidominant (1;3) failed initial filter 2019-10-23
Peter Jurek
 Nlrc4 inflammasome: low response
A ⇒ G missense probably damaging 0.999
30 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (4;18)
 Autosomal Semidominant (5;25)
excellent candidate 2019-10-23
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
A ⇒ C critical splice donor site probably null
31 UTSW
has photo
Kitl 0.335 10 100015630-100100416 bp (+) 100076906 Unknown (1;0)
 Autosomal Dominant (3;8)
no Linkage result 2019-10-23
Anne Murray
G ⇒ A critical splice donor site probably null
32 UTSW Rab38 0.610 7 88430273-88491572 bp (+) 88450541 Unknown no Linkage result 2019-10-23
Anne Murray
T ⇒ A missense probably damaging 0.995
33 UTSW
has photo
Hps3 0.134 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) no Linkage result 2019-10-23
Anne Murray
A ⇒ C missense probably damaging 1.000
34 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (1;4) no Linkage result 2019-10-23
Anne Murray
T ⇒ A missense possibly damaging 0.907
35 UTSW Cd8a 0.089 6 71373427-71379173 bp (+) 71373728 Autosomal Dominant (1;4)
 Autosomal Recessive (7;49)

 Autosomal Semidominant (6;64)
excellent candidate 2019-10-23
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 MCMV susceptibility
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
T ⇒ A missense probably damaging 0.989
36 UTSW
has photo
Lyst 0.277 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) excellent candidate 2019-10-14
Diantha La Vine
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS pDCs - increased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 MCMV susceptibility
T ⇒ A critical splice donor site 2 bp probably null
37 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (2;9)
 Autosomal Semidominant (1;4)
excellent candidate 2019-10-14
Diantha La Vine
 FACS CD8+ T cells - increased
 FACS T cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ T missense probably damaging 1.000
38 UTSW Gys2 0.347 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (2;13) potential candidate 2019-09-24
External Program
 30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
39 UTSW Bcl10 0.000 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (14;151)

 Autosomal Semidominant (2;11)
excellent candidate 2019-09-11
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - decreased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS neutrophils - decreased
 FACS NK cells - decreased
 FACS T cells - increased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 NK cell response - decreased
 NK killing - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably damaging 0.999
40 UTSW Ptpn6 0.499 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (18;131) excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ C missense probably damaging 1.000
41 UTSW Zeb1 0.927 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A missense probably damaging 0.998
42 UTSW Slc9a8 0.000 2 167421712-167477000 bp (+) 167451296 Unknown potential candidate 2019-09-04
External Program
 DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
43 UTSW
has photo
Hps5 0.144 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
not good candidate 2019-09-04
Diantha La Vine
 dsDNA induced type I IFN production - increased
 FACS CD11c+ DCs - decreased
 FACS IgM MFI - decreased
 impaired response to dsDNA- type I IFN production by macrophages
A ⇒ G critical splice donor site 2 bp probably null
44 UTSW Jak3 0.747 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (28;212)
 Autosomal Semidominant (3;15)
excellent candidate 2019-09-04
Diantha La Vine
 125-03 Response - decreased
 FACS B cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS T cells - decreased
 MCMV susceptibility
 OVA-specific IgE - increased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS CD11c+ DCs - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 total IgE level - increased
A ⇒ G missense probably damaging 1.000
45 UTSW Tnfsf13b 0.093 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
 Autosomal Semidominant (8;93)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS CD11c+ DCs - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A splice site 5 bp probably null
46 UTSW Jak3 0.747 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (2;10)
 Autosomal Semidominant (1;5)
excellent candidate 2019-09-04
Diantha La Vine
 cellular phenotype
 FACS B:T cells - increased
 FACS B1b cells - decreased
 FACS CD8+ T cells - decreased
C ⇒ T splice site 4 bp probably benign
47 UTSW Insr 0.849 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (2;10)
 Autosomal Semidominant (1;2)
potential candidate 2019-09-04
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ G missense probably damaging 1.000
48 UTSW Rac2 0.000 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) excellent candidate 2019-09-04
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 1.000
49 UTSW
has photo
Tshr 0.273 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (2;12)
excellent candidate 2019-09-04
Bruce Beutler
 125-03 Response - increased
 Body Weight (Z-score) - decreased
 endocrine/exocrine gland
C ⇒ A nonsense probably null
50 UTSW Arnt2 1.000 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (2;2)
 Autosomal Semidominant (3;17)
excellent candidate 2019-09-04
External Program
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 DSS: sensitive day 10
 NK cell response - decreased
 NK killing - decreased
G ⇒ A missense probably damaging 1.000
51 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) excellent candidate 2019-09-04
Katherine Timer
 FACS B220 MFI - decreased
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
T ⇒ A splice site 14 bp probably null
52 UTSW Nlrp3 0.077 11 59541568-59566956 bp (+) 59565850 Autosomal Semidominant (1;3) failed initial filter 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.017
53 UTSW
has video
Rorb 0.000 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (3;12) no Linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 1.000
54 UTSW
has video
Scn8a 0.799 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
 Autosomal Recessive (1;5)
potential candidate 2019-09-04
Anne Murray
 Body Weight - decreased
A ⇒ G missense probably damaging 1.000
55 UTSW Adgrf5 0.000 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) no Linkage result 2019-09-04
Diantha La Vine
A ⇒ T missense probably damaging 0.957
56 UTSW Apbb2 0.000 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) failed initial filter 2019-09-04
External Program
 30 min GTT hyperglycemic (male)
T ⇒ A missense probably damaging 0.996
57 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (7;45)
excellent candidate 2019-09-04
Peter Jurek
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A unclassified 9 bp probably null
58 UTSW
has video
Slc26a4 0.000 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (1;2) no Linkage result 2019-09-04
Emre Turer
A ⇒ T nonsense probably null
59 UTSW
has photo
Pkd2 1.000 5 104459450-104505819 bp (+) 104486806 Unknown (1;0) no Linkage result 2019-09-04
Anne Murray
T ⇒ A missense probably damaging 1.000
60 UTSW Sppl2a 0.107 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) excellent candidate 2019-09-04
Katherine Timer
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably benign 0.002
61 UTSW Nr3c2 1.000 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) not good candidate 2019-09-04
Bruce Beutler
 Body Weight - decreased
A ⇒ G unclassified probably null
62 UTSW
has video
Dst 0.208 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
 Autosomal Recessive (5;19)
potential candidate 2019-09-04
Anne Murray
 Body Weight - decreased
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 TLR signaling defect: hypersensitivity to CpG + IFNg
T ⇒ C critical splice donor site 2 bp probably null
63 UTSW Nlrp3 0.077 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
 Autosomal Semidominant (1;6)
excellent candidate 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.190
64 UTSW
has photo
Tyr 0.194 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) no Linkage result 2019-09-04
Anne Murray
C ⇒ A missense probably damaging 1.000
65 UTSW
has photohas video
Grm1 0.187 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) no Linkage result 2019-09-04
Diantha La Vine
G ⇒ T nonsense probably null
66 UTSW
has photo
Adamts20 0.203 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) no Linkage result 2019-09-04
Diantha La Vine
A ⇒ T missense probably damaging 1.000
67 UTSW
has photo
Lyst 0.277 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) no Linkage result 2019-09-04
Diantha La Vine
T ⇒ A nonsense probably null
68 UTSW Entpd5 0.000 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (9;42)
 Autosomal Semidominant (2;9)
excellent candidate 2019-09-04
External Program
 125-03 Response - increased
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (DSS, z-score) - decreased
 Body Weight (Female) - decreased
 Body Weight (Z-score) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1 cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 TLR signaling defect: hypersensitivity to PAM3CSK4
G ⇒ A nonsense probably null
69 UTSW
has video
Syt2 0.129 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
 Autosomal Semidominant (1;1)
failed initial filter 2019-09-04
Anne Murray
 Body Weight - decreased
C ⇒ A missense probably damaging 0.998
70 UTSW Ciita 0.135 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
Anne Murray
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS CD4:CD8 - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
71 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (5;26)
 Autosomal Recessive (4;18)

 Autosomal Semidominant (5;37)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - decreased
 FACS T cells - increased
 MCMV susceptibility
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
72 UTSW
has video
Myo6 0.000 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) potential candidate 2019-09-04
Anne Murray
 dsDNA induced type I IFN production - increased
 impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
73 UTSW Rorc 0.823 3 94372794-94398276 bp (+) 94397302 Autosomal Recessive (1;8) excellent candidate 2019-09-04
Diantha La Vine
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
74 UTSW Socs2 0.142 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (2;10) excellent candidate 2019-09-04
Bruce Beutler
 Body Weight - increased
 Body Weight (DSS Male) - increased
C ⇒ A nonsense probably null
75 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582449 Autosomal Semidominant (4;31) excellent candidate 2019-09-04
Diantha La Vine
 FACS B1 cells - decreased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A missense probably damaging 1.000
76 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (2;10)
 Autosomal Semidominant (1;4)
excellent candidate 2019-09-04
External Program
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
C ⇒ T nonsense probably null
77 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (10;147) excellent candidate 2019-09-04
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
T ⇒ A missense possibly damaging 0.938
78 UTSW Tub 0.000 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (7;36) excellent candidate 2019-09-04
Bruce Beutler
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Female) - increased
 Body Weight (Z-score) - increased
C ⇒ T nonsense probably null
79 UTSW Nfkb2 0.635 19 46304737-46312090 bp (+) 46311626 Unknown (1;0)
 Autosomal Recessive (1;4)
not good candidate 2019-09-04
Diantha La Vine
 FACS B1a cells - increased
A ⇒ T missense possibly damaging 0.956
80 UTSW Mapk3 0.000 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) excellent candidate 2019-09-04
Peter Jurek
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
81 UTSW Nlrp3 0.077 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (3;15) excellent candidate 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 T-dependent humoral response defect- increased antibody response to rSFV
T ⇒ A missense probably damaging 0.991
82 UTSW Gck 1.000 11 5900820-5950081 bp (-) 5902165 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;4)
failed initial filter 2019-09-04
Katherine Timer
 30 min GTT hyperoglycemic (female)
A ⇒ T missense probably damaging 1.000
83 UTSW Tnfsf13b 0.093 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;5)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B:T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably damaging 1.000
84 UTSW Irf7 0.000 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4) not good candidate 2019-09-04
Anne Murray
 Nlrc4 inflammasome: high response
T ⇒ C missense probably damaging 0.992
85 UTSW Lyst 0.277 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) potential candidate 2019-09-04
Diantha La Vine
 125-03 Response - decreased
 phagocytosis in PECs - increased
T ⇒ C missense probably benign 0.004
86 UTSW Lck 0.000 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (11;60)
 Autosomal Semidominant (2;8)
excellent candidate 2019-09-04
Katherine Timer
 DSS: resistant day 10
 DSS: sensitive day 7
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD4:CD8 - decreased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
 post-MCMV FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ T missense probably damaging 1.000
87 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
 Autosomal Dominant (1;5)

 Autosomal Semidominant (8;34)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 MCMV susceptibility
 OVA-specific IgE - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD4 MFI - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
 post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
 post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ G critical splice donor site 2 bp probably null
88 UTSW Nos3 0.000 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) excellent candidate 2019-09-04
Diantha La Vine
 DSS: sensitive day 7
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T missense probably damaging 1.000
89 UTSW Fcer2a 0.000 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) potential candidate 2019-09-04
Bruce Beutler
 FACS CD11c+ DCs - increased
A ⇒ G critical splice donor site 2 bp probably null
90 UTSW Col3a1 0.841 1 45311538-45349706 bp (+) 45327866 Autosomal Recessive (2;7) excellent candidate 2019-09-04
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ T splice site 3 bp probably null
91 UTSW Grm7 0.000 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) no Linkage result 2019-09-04
Anne Murray
A ⇒ T nonsense probably null
92 UTSW Adamts20 0.203 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) no Linkage result 2019-09-04
Diantha La Vine
C ⇒ T missense probably damaging 0.999
93 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (4;7)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1a cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B2 cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM+ B cells - decreased
C ⇒ A critical splice donor site 1 bp probably null
94 UTSW
has video
Grid2 0.000 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) potential candidate 2019-09-04
Anne Murray
 MCMV susceptibility
T ⇒ A nonsense probably null
95 UTSW Mc4r 0.108 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (5;32) excellent candidate 2019-09-04
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Z-score) - increased
A ⇒ T missense probably damaging 0.999
96 UTSW Hr 0.000 14 70552212-70573548 bp (+) 70571448 Unknown failed initial filter 2019-09-04
Diantha La Vine
 Body Weight (DSS Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
G ⇒ A missense probably damaging 1.000
97 UTSW Gk5 0.000 9 96119362-96184608 bp (+) 96150797 Autosomal Recessive (6;25) excellent candidate 2019-09-04
Anne Murray
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
G ⇒ A critical splice donor site 1 bp probably null
98 UTSW Lyst 0.277 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) potential candidate 2019-09-04
Diantha La Vine
 MCMV susceptibility
T ⇒ C missense possibly damaging 0.908
99 UTSW
has photo
Ksr2 0.106 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
 Autosomal Recessive (2;9)
potential candidate 2019-09-04
Anne Murray
 impaired response to dsDNA- type I IFN production by macrophages
T ⇒ A missense probably damaging 0.994
100 UTSW Rhbdf2 0.000 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant (7;57) excellent candidate 2019-09-04
Katherine Timer
 125-03 Response - decreased
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
A ⇒ T missense possibly damaging 0.936
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