enfr

Immunological

Product Name

Application

Region

P028-FHL

Familial lymphohistiocytosis (HLH)

UNC13D 17q25.1, PRF1 10q22.1, STX11 6q24.2

P041-ATM-1 CE

Ataxia-Telangiectasia (AT)

ATM 11q23

P042-ATM-2 CE

Ataxia-Telangiectasia (AT)

ATM 11q23

P094-MEFV

Mediterranean fever, familial (MEFV)

MEFV 16p13.3

P110-FCGR mix 1

(basic research)

FCGR genes 1q23.3

FCGR genes 1q23.3

P111-FCGR mix 2

(basic research)

FCGR genes 1q23.3

FCGR genes 1q23.3

P205-SH2D1A-XIAP-ITK

Lymphoproliferative syndrome

SH2D1A and XIAP (Xq25); ITK (5q33)

P236-ARMD mix-1

(basic research)

Age-related macular degeneration (ARMD)

CFH, CFHR3, CFHR1, CFHR2, 1q23

P243-SERPING1 - F12

Hereditary angioedema (HAE)

SERPING1 11q12.1; F12 5q35.3

P247-Chemokine-2

(basic research)

Chemokines

CXCR4, CX3CR1, CCR5, CCR2, CD4, CD209

P296-aHUS

Hemolytic uremic syndrome, atypical (aHUS)

CFI 4q25

P368-DCLRE1C

SCID and Omenn syndrome

10p13; DCLRE1C

P385-DOCK8

HIES

9p24.3

P386-DOCK8 STAT3

HIES

17q21.2, 9p24.3

P430-PLCG2

Cold-induced urticaria

16q23

P438-HLA

Celiac Disease, HLA-DQ2.5 HLA-DQ8 HLA-DQ2.2

6p21.32

P454-CGD

Chronic Granulomatous Disease

Xp21.1; 1q25.3; 16q24.3; 22q13.1

 

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