Inmunología

ESTUDIOS DISPONIBLES:

  • HLA B27
  • Quimerismo

 

PANELES:

Panel de Deficiencia del Sistema Complemento
ADIPOQComplement system
ADIPOR1Complement system
ADIPOR2Complement system
ARMC4Ciliary dyskinesia
C1QAC1q deficiency
C1QBC1q deficiency
C1QBPPrimary immunodeficiency
C1QCC1q deficiency
C1RImmunodeficiency
C1SComplement component C1s deficiency
C2Complement component 2 deficiency
C3Complement component 3 deficiency, Hemolytic uremic syndrome, atypical
C3AR1Complement system
C4ABlood group, Chido/Rodgers system
C4BComplement component 4B deficiency
C4BPAComplement system
C4BPBComplement system
C5Complement component 5 deficiency, Eculizumab, poor response to
C5AR1Complement system
C5AR2Complement system
C6Complement component 6 deficiency
C7Complement component 7 deficiency
C8AComplement component 8 deficiency
C8BComplement component 8 deficiency
C8GImmunodeficiency
C9Complement component 9 deficiency
CCDC39Ciliary dyskinesia
CCDC40Ciliary dyskinesia
CCDC65Ciliary dyskinesia
CCDC103Ciliary dyskinesia
CCDC114Ciliary dyskinesia
CCNOCiliary dyskinesia
CD46Hemolytic uremic syndrome, atypical
CD55Blood group, Cromer system
CD59CD59 deficiency
CD93Complement system
CFBComplement factor B deficiency, Hemolytic uremic syndrome, atypical
CFDComplement factor D deficiency
CFHComplement factor H deficiency, Hemolytic uremic syndrome, atypical
CFHR1Hemolytic uremic syndrome, atypical
CFHR3Hemolytic uremic syndrome, atypical
CFIComplement factor I deficiency, Hemolytic uremic syndrome, atypical
CFPProperdin deficiency
CLUComplement system
COLEC113MC syndrome
CR1Blood group, Knops system
CR2Common variable immunodeficiency
CRPComplement system
DGKENephrotic syndrome
DNAAF1Ciliary dyskinesia
DNAAF2Ciliary dyskinesia
DNAAF3Primary ciliary dyskinesia
DNAAF5Ciliary dyskinesia
DNAH5Ciliary dyskinesia
DNAH11Ciliary dyskinesia
DNAI1Ciliary dyskinesia
DNAI2Ciliary dyskinesia
DNAL1Ciliary dyskinesia
DRC1Primary ciliary dyskinesia
DYX1C1Ciliary dyskinesia
FCN1Complement system
FCN2Complement system
FCN3Immunodeficiency due to Ficolin 3 deficiency
HYDINPrimary ciliary dyskinesia
LRRC6Ciliary dyskinesia
MASP13MC syndrome
MASP2MASP2 deficiency
MAT2AComplement system
NME8Ciliary dyskinesia
OFD1Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome
PTX3Complement system
RPGRRetinitis pigmentosa
RSPH1Ciliary dyskinesia
RSPH4ACiliary dyskinesia
RSPH9Ciliary dyskinesia
SERPING1Angioedema
SPAG1Primary ciliary dyskinesia
THBDHemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect
VSIG4Complement system
VTNComplement system
ZMYND10Ciliary dyskinesia
Panel de Disqueratosis Congénita

AK2

Reticular dysgenesis

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

NHP2

Dyskeratosis congenita

NOP10

Dyskeratosis congenita

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

USB1

Poikiloderma with neutropenia

WRAP53

Dyskeratosis congenita

Panel de Enfermedad Granulomatosa Crónica

CYBA

Chronic granulomatous disease

CYBB

Chronic granulomatous disease, Immunodeficiency

G6PD

Glucose-6-phosphate dehydrogenase deficiency

NCF1

Chronic granulomatous disease

NCF2

Chronic granulomatous disease

NCF4

Granulomatous disease

NOD2

Blau syndrome, Sarcoidosis, early-onset

Panel de Inmunodeficiencia Combinada Severa

ADA

Severe combined immunodeficiency due to adenosine deaminase deficiency

AK2

Reticular dysgenesis

ATM

Ataxia-Telangiectasia, Breast cancer

BLM

Bloom syndrome

CARD11

B-cell expansion with NFKB and T-cell anergy, Immunodeficiency

CD3D

Immunodeficiency

CD3E

Immunodeficiency

CD3G

Immunodeficiency

CD8A

CD8 deficiency

CD27

Lymphoproliferative syndrome

CD40

Immunodeficiency with Hyper-IgM

CD40LG

Immunodeficiency, with hyper-IgM

CD247

Immunodeficiency

CIITA

Bare lymphocyte syndrome

CORO1A

Immunodeficiency

DCLRE1C

Omenn syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation

DNMT3B

Immunodeficiency-centromeric instability-facial anomalies syndrome

DOCK8

Hyper-IgE recurrent infection syndrome

IFNGR1

Immunodeficiency

IKBKG

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)

IL2RA

Interleukin 2 receptor, alpha, deficiency

IL2RG

Combined immunodeficiency

IL7R

Severe combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positive

IL12RB1

Immunodeficiency

ITGB2

Leukocyte adhesion deficiency

ITK

Lymphoproliferative syndrome

JAK3

Severe combined immunodeficiency, , T cell-negative, B cell-positive, natural killer cell-negative

LCK

Immunodeficiency

LIG4

LIG4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation

LRBA

Common variable immunodeficiency

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MALT1

Immunodeficiency

NHEJ1

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

ORAI1

Immunodeficiency

PIK3CD

Immunodeficiency

PMS2

Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome

PNP

Purine nucleoside phosphorylase deficiency

PRKDC

Immunodeficiency

PTPRC

Severe combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positive

RAG1

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, Combined cellular and humoral immune defects with granulomas, Omenn syndrome, T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency

RAG2

Combined cellular and humoral immune defects with granulomas, Omenn syndrome

RFX5

Bare lymphocyte syndrome

RFXANK

MHC class II deficiency

RFXAP

Bare lymphocyte syndrome

RHOH

T-cell immunodeficiency with epidermodysplasia verruciformis

RMRP

Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

SH2D1A

Lymphoproliferative syndrome

SMARCAL1

Schimke immunoosseous dysplasia

SP110

Hepatic venoocclusive disease with immunodeficiency

SPINK5

Netherton syndrome

STAT1

Immunodeficiency

STAT2

Immunodeficiency

STAT3

Autoimmune disease, multisystem, infantile onset, Hyper-IgE recurrent infection syndrome

STAT4

Behçet disease, Juvenile rheumatoid factor-negative polyarthritis, Oligoarticular juvenile arthritis, Pediatric systemic lupus erythematosus

STAT5B

Growth hormone insensitivity with immunodeficiency

STIM1

Immunodeficiency, Stormorken syndrome

STK4

T-cell immunodeficiency syndrome, recurrent infections, autoimmunity,

TAP1

Bare lymphocyte syndrome

TAP2

Bare lymphocyte syndrome

TAPBP

Bare lymphocyte syndrome

TBX1

Conotruncal anomaly face syndrome

TNFRSF4

Immunodeficiency

TRAC

T-cell receptor-alpha/beta deficiency

TYK2

Immunodeficiency

UNC119

Immunodeficiency

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

ZAP70

Selective T-cell defect

Panel de Inmunodeficiencias Primarias

ACP5

Spondyloenchondrodysplasia with immune dysregulation

ACTB

Baraitser-Winter syndrome

ADA

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADAR

Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria

ADIPOQ

Complement system

ADIPOR1

Complement system

ADIPOR2

Complement system

AICDA

Immunodeficiency with hyper-IgM

AIRE

Autoimmune polyendocrinopathy syndrome

AK2

Reticular dysgenesis

AP3B1

Hermansky-Pudlak syndrome

ARMC4

Ciliary dyskinesia

ATM

Ataxia-Telangiectasia, Breast cancer

BLM

Bloom syndrome

BTK

Agammaglobulinemia, Agammaglobulinemia and isolated hormone deficiency, Hypogammaglobulinemia

C1QA

C1q deficiency

C1QB

C1q deficiency

C1QBP

Primary immunodeficiency

C1QC

C1q deficiency

C1R

Immunodeficiency

C1S

Complement component C1s deficiency

C2

Complement component 2 deficiency

C3

Complement component 3 deficiency, Hemolytic uremic syndrome, atypical

C3AR1

Complement system

C4A

Blood group, Chido/Rodgers system

C4B

Complement component 4B deficiency

C4BPA

Complement system

C4BPB

Complement system

C5

Complement component 5 deficiency, Eculizumab, poor response to

C5AR1

Complement system

C5AR2

Complement system

C6

Complement component 6 deficiency

C7

Complement component 7 deficiency

C8A

Complement component 8 deficiency

C8B

Complement component 8 deficiency

C8G

Immunodeficiency

C9

Complement component 9 deficiency

CARD11

B-cell expansion with NFKB and T-cell anergy, Immunodeficiency

CARD14

Psoriasis

CASP8

Caspase 8 defiency

CASP10

Autoimmune lymphoproliferative syndrome

CCDC39

Ciliary dyskinesia

CCDC40

Ciliary dyskinesia

CCDC65

Ciliary dyskinesia

CCDC103

Ciliary dyskinesia

CCDC114

Ciliary dyskinesia

CCNO

Ciliary dyskinesia

CD3D

Immunodeficiency

CD3E

Immunodeficiency

CD3G

Immunodeficiency

CD8A

CD8 deficiency

CD19

Immunodeficiency, common variable

CD27

Lymphoproliferative syndrome

CD40

Immunodeficiency with Hyper-IgM

CD40LG

Immunodeficiency, with hyper-IgM

CD46

Hemolytic uremic syndrome, atypical

CD55

Blood group, Cromer system

CD59

CD59 deficiency

CD93

Complement system

CD247

Immunodeficiency

CECR1

ADA2 deficiency, Polyarteritis nodosa

CFB

Complement factor B deficiency, Hemolytic uremic syndrome, atypical

CFD

Complement factor D deficiency

CFH

Complement factor H deficiency, Hemolytic uremic syndrome, atypical

CFHR1

Hemolytic uremic syndrome, atypical

CFHR3

Hemolytic uremic syndrome, atypical

CFI

Complement factor I deficiency, Hemolytic uremic syndrome, atypical

CFP

Properdin deficiency

CIITA

Bare lymphocyte syndrome

CLU

Complement system

COLEC11

3MC syndrome

CORO1A

Immunodeficiency

CR1

Blood group, Knops system

CR2

Common variable immunodeficiency

CRP

Complement system

CSF2RA

Surfactant metabolism dysfunction, pulmonary

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

CTLA4

 

CTSC

Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile

CYBA

Chronic granulomatous disease

CYBB

Chronic granulomatous disease, Immunodeficiency

DCLRE1C

Omenn syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation

DDX58

Singleton-Merten syndrome

DGKE

Nephrotic syndrome

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

DNAAF1

Ciliary dyskinesia

DNAAF2

Ciliary dyskinesia

DNAAF3

Primary ciliary dyskinesia

DNAAF5

Ciliary dyskinesia

DNAH5

Ciliary dyskinesia

DNAH11

Ciliary dyskinesia

DNAI1

Ciliary dyskinesia

DNAI2

Ciliary dyskinesia

DNAL1

Ciliary dyskinesia

DNMT3B

Immunodeficiency-centromeric instability-facial anomalies syndrome

DOCK2

Immunodeficiency

DOCK8

Hyper-IgE recurrent infection syndrome

DRC1

Primary ciliary dyskinesia

DYX1C1

Ciliary dyskinesia

ELANE

Neutropenia

FAS

Autoimmune lymphoproliferative syndrome

FCN1

Complement system

FCN2

Complement system

FCN3

Immunodeficiency due to Ficolin 3 deficiency

FERMT3

Leukocyte adhesion deficiency

FOXP3

Immunodysregulation, polyendocrinopathy, and enteropathy

G6PC3

Dursun syndrome, Neutropenia, severe congenital

G6PD

Glucose-6-phosphate dehydrogenase deficiency

GATA2

Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome

HAX1

Neutropenia, severe congenital

HYDIN

Primary ciliary dyskinesia

IFIH1

Singleton-Merten syndrome

IFNGR1

Immunodeficiency

IFNGR2

Immunodeficiency

IGHM

Agammaglobulinemia

IGLL1

Agammaglobulinemia

IKBKG

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)

IL1RN

Osteomyelitis, sterile multifocal, with periostitis and pustulosis

IL2RA

Interleukin 2 receptor, alpha, deficiency

IL2RG

Combined immunodeficiency

IL7

Generalized verrucosis, HPV susceptibility, Interleukin 7 deficiency

IL7R

Severe combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positive

IL10RA

Inflammatory bowel disease

IL10RB

Inflammatory bowel disease

IL12RB1

Immunodeficiency

IL36RN

Pustular psoriasis, generalized

ISG15

Immunodeficiency, with basal ganglia calcification

ITGB2

Leukocyte adhesion deficiency

ITK

Lymphoproliferative syndrome

JAGN1

Neutropenia, severe congenital

JAK3

Severe combined immunodeficiency, , T cell-negative, B cell-positive, natural killer cell-negative

LCK

Immunodeficiency

LIG4

LIG4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation

LPIN2

Majeed syndrome

LRBA

Common variable immunodeficiency

LRRC6

Ciliary dyskinesia

LYST

Chediak-Higashi syndrome

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MALT1

Immunodeficiency

MASP1

3MC syndrome

MASP2

MASP2 deficiency

MAT2A

Complement system

MEFV

Familial Mediterranean fever

MRE11A

Ataxia-telangiectasia-like disorder-1

MVK

Hyper-IgD syndrome, Mevalonic aciduria

NBN

Breast cancer, Nijmegen breakage syndrome

NCF1

Chronic granulomatous disease

NCF2

Chronic granulomatous disease

NCF4

Granulomatous disease

NFKB1

Common variable immunodeficiency

NFKB2

Common variable immunodeficiency

NFKBIA

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency

NHEJ1

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

NHP2

Dyskeratosis congenita

NLRP3

Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Muckle-Wells syndrome, Neonatal onset multisystem inflammatory disease (NOMID)

NLRP12

Familial cold autoinflammatory syndrome

NME8

Ciliary dyskinesia

NOD2

Blau syndrome, Sarcoidosis, early-onset

NOP10

Dyskeratosis congenita

NRAS

Noonan syndrome

OFD1

Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome

ORAI1

Immunodeficiency

PIGA

Multiple congenital anomalies-hypotonia-seizures syndrome

PIK3CD

Immunodeficiency

PIK3R1

Agammaglobulinemia

PLCG2

Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID), Familial cold autoinflammatory syndrome 3 (PLAID)

PMS2

Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome

PNP

Purine nucleoside phosphorylase deficiency

PRF1

Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin

PRKDC

Immunodeficiency

PSMB8

Autoinflammation, lipodystrophy, and dermatosis syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome, Nakajo-Nishimura syndrome

PSTPIP1

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

PTPRC

Severe combined immunodeficiency, , T-cell negative, B-cell positive, NK cell positive

PTX3

Complement system

RAB27A

Elejalde syndrome, Griscelli syndrome

RAG1

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, Combined cellular and humoral immune defects with granulomas, Omenn syndrome, T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency

RAG2

Combined cellular and humoral immune defects with granulomas, Omenn syndrome

RFX5

Bare lymphocyte syndrome

RFXANK

MHC class II deficiency

RFXAP

Bare lymphocyte syndrome

RHOH

T-cell immunodeficiency with epidermodysplasia verruciformis

RMRP

Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis

RNASEH2A

Aicardi-Goutières syndrome

RNASEH2B

Aicardi-Goutières syndrome

RNASEH2C

Aicardi-Goutières syndrome

RPGR

Retinitis pigmentosa

RSPH1

Ciliary dyskinesia

RSPH4A

Ciliary dyskinesia

RSPH9

Ciliary dyskinesia

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

SAMHD1

Aicardi-Goutières syndrome

SBDS

Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome

SERPING1

Angioedema

SH2D1A

Lymphoproliferative syndrome

SLC37A4

Glycogen storage disease

SMARCAL1

Schimke immunoosseous dysplasia

SP110

Hepatic venoocclusive disease with immunodeficiency

SPAG1

Primary ciliary dyskinesia

SPINK5

Netherton syndrome

STAT1

Immunodeficiency

STAT2

Immunodeficiency

STAT3

Autoimmune disease, multisystem, infantile onset, Hyper-IgE recurrent infection syndrome

STAT4

Behçet disease, Juvenile rheumatoid factor-negative polyarthritis, Oligoarticular juvenile arthritis, Pediatric systemic lupus erythematosus

STAT5B

Growth hormone insensitivity with immunodeficiency

STIM1

Immunodeficiency, Stormorken syndrome

STK4

T-cell immunodeficiency syndrome, recurrent infections, autoimmunity,

STXBP2

Hemophagocytic lymphohistiocytosis, familial

TAP1

Bare lymphocyte syndrome

TAP2

Bare lymphocyte syndrome

TAPBP

Bare lymphocyte syndrome

TBX1

Conotruncal anomaly face syndrome

TCIRG1

Osteopetrosis, severe neonatal or infantile forms (OPTB1)

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

THBD

Hemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect

TINF2

Dyskeratosis congenita, Revesz syndrome

TMEM173

STING-associated vasculopathy, infantile-onsent (SAVI)

TNFRSF1A

Periodic fever (TNF receptor-associated periodic syndrome)

TNFRSF4

Immunodeficiency

TNFRSF13B

Common variable immunodeficiency, Immunoglobulin A deficiency

TRAC

T-cell receptor-alpha/beta deficiency

TREX1

Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy

TYK2

Immunodeficiency

UNC119

Immunodeficiency

USB1

Poikiloderma with neutropenia

VSIG4

Complement system

VTN

Complement system

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

WRAP53

Dyskeratosis congenita

XIAP

Lymphoproliferative syndrome

ZAP70

Selective T-cell defect

ZMYND10

Ciliary dyskinesia

Panel de Insuficiencia de Médula Ósea

ACTB

Baraitser-Winter syndrome

AK2

Reticular dysgenesis

AP3B1

Hermansky-Pudlak syndrome

ATM

Ataxia-Telangiectasia, Breast cancer

ATR

Cutaneous telangiectasia and cancer syndrome, Seckel syndrome

BLM

Bloom syndrome

BLOC1S3

Hermansky-Pudlak syndrome

BLOC1S6

Hermansky-Pudlak syndrome

BRCA2

Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor

BRIP1

Breast cancer, Fanconi anemia

CDKN2A

Melanoma, familial, Melanoma-pancreatic cancer syndrome

CEBPA

Acute myeloid leukemia, familial

CSF2RA

Surfactant metabolism dysfunction, pulmonary

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

CTSC

Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile

CXCR4

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

DTNBP1

Hermansky-Pudlak syndrome

ELANE

Neutropenia

ERCC4

Fanconi anemia, Xeroderma pigmentosum

FANCA

Fanconi anemia

FANCB

Fanconi anemia

FANCC

Fanconi anemia

FANCD2

Fanconi anemia

FANCE

Fanconi anemia

FANCF

Fanconia anemia

FANCG

Fanconi anemia

FANCI

Fanconi anemia

FANCL

Fanconi anemia

FANCM

Fanconi anemia

FAS

Autoimmune lymphoproliferative syndrome

G6PC3

Dursun syndrome, Neutropenia, severe congenital

GATA1

Anemia, without thrombocytopenia, Dyserythropoietic anemia with thrombocytopenia, Thrombocytopenia with beta-thalessemia,

GATA2

Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome

HAX1

Neutropenia, severe congenital

HPS1

Hermansky-Pudlak syndrome

HPS3

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

HPS5

Hermansky-Pudlak syndrome

HPS6

Hermansky-Pudlak syndrome

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

IFNGR2

Immunodeficiency

ITK

Lymphoproliferative syndrome

JAGN1

Neutropenia, severe congenital

KRAS

Cardiofaciocutaneous syndrome, Noonan syndrome

LYST

Chediak-Higashi syndrome

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MLH1

Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome

MPL

Amegakaryocytic thrombocytopenia, Thrombocythemia

MSH2

Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome

MSH6

Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome

MYO5A

Griscelli syndrome

NBN

Breast cancer, Nijmegen breakage syndrome

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NHP2

Dyskeratosis congenita

NOP10

Dyskeratosis congenita

NRAS

Noonan syndrome

PALB2

Breast cancer, Fanconi anemia, Pancreatic cancer

PMS2

Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome

PRF1

Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin

PTPN11

LEOPARD syndrome, Metachondromatosis, Noonan syndrome

RAB27A

Elejalde syndrome, Griscelli syndrome

RAD51C

Breast-ovarian cancer, familial, Fanconi anemia

RECQL4

Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome

RPL5

Diamond-Blackfan anemia

RPL11

Diamond-Blackfan anemia

RPL15

Diamond-Blackfan anemia

RPL35A

Diamond-Blackfan anemia

RPS7

Diamond-Blackfan anemia

RPS10

Diamond-Blackfan anemia

RPS17

Diamond-Blackfan anemia

RPS19

Diamond-Blackfan anemia

RPS24

Diamond-Blackfan anemia

RPS26

Diamond-Blackfan anemia

RPS29

Diamond-Blackfan anemia

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

RUNX1

Platelet disorder, familial, with associated myeloid malignancy

SBDS

Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome

SH2D1A

Lymphoproliferative syndrome

SLX4

Fanconi anemia

STX11

Hemophagocytic lymphohistiocytosis, familial

STXBP2

Hemophagocytic lymphohistiocytosis, familial

TCIRG1

Osteopetrosis, severe neonatal or infantile forms (OPTB1)

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

TP53

Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma

UNC13D

Hemophagocytic lymphohistiocytosis, familial

USB1

Poikiloderma with neutropenia

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

WRAP53

Dyskeratosis congenita

XIAP

Lymphoproliferative syndrome

XRCC2

Hereditary breast cancer

Panel de Neutropenia Congénita

ACTB

Baraitser-Winter syndrome

CSF2RA

Surfactant metabolism dysfunction, pulmonary

CTSC

Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile

ELANE

Neutropenia

G6PC3

Dursun syndrome, Neutropenia, severe congenital

GATA2

Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome

HAX1

Neutropenia, severe congenital

IFNGR2

Immunodeficiency

JAGN1

Neutropenia, severe congenital

LYST

Chediak-Higashi syndrome

SBDS

Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome

TCIRG1

Osteopetrosis, severe neonatal or infantile forms (OPTB1)

WAS

Neutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndrome

Panel de Síndrome Autoinflamatorio

ACP5

Spondyloenchondrodysplasia with immune dysregulation

ADAR

Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria

CARD14

Psoriasis

DDX58

Singleton-Merten syndrome

ELANE

Neutropenia

IFIH1

Singleton-Merten syndrome

IL1RN

Osteomyelitis, sterile multifocal, with periostitis and pustulosis

IL36RN

Pustular psoriasis, generalized

ISG15

Immunodeficiency, with basal ganglia calcification

LPIN2

Majeed syndrome

MEFV

Familial Mediterranean fever

MVK

Hyper-IgD syndrome, Mevalonic aciduria

NLRP3

Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Muckle-Wells syndrome, Neonatal onset multisystem inflammatory disease (NOMID)

NLRP12

Familial cold autoinflammatory syndrome

NOD2

Blau syndrome, Sarcoidosis, early-onset

PLCG2

Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID), Familial cold autoinflammatory syndrome 3 (PLAID)

PSMB8

Autoinflammation, lipodystrophy, and dermatosis syndrome, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome, Nakajo-Nishimura syndrome

PSTPIP1

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

RNASEH2A

Aicardi-Goutières syndrome

RNASEH2B

Aicardi-Goutières syndrome

RNASEH2C

Aicardi-Goutières syndrome

SAMHD1

Aicardi-Goutières syndrome

TMEM173

STING-associated vasculopathy, infantile-onsent (SAVI)

TNFRSF1A

Periodic fever (TNF receptor-associated periodic syndrome)

TREX1

Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy

 

Clasificación de Variantes

 

EXOMA.

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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