Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary immunological disorders

The group of hereditary immunological disorders includes genetic alterations of genes that regulate the immune system. Such dysregulations may result in autoimmunity or impaired resistance to infectious diseases.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Atopy
MS4A2
Autoimmune disease
Autoimmune polyendokrinopathy
Autoimmune polyendocrinopathy syndrome 1
AIRE
Autoimmune polyendocrinopathy syndrome 2
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3
Membranous nephropathy
HLA-DQA1
PLA2R1
Susceptibility to autoimmune thyroid disease
Graves disease
GC
Susceptibility to autoimmune thyroid disease 1
Susceptibility to autoimmune thyroid disease 2
Susceptibility to autoimmune thyroid disease 3
TG
ZFAT
Susceptibility to autoimmune thyroid disease 4
Susceptibility to autoimmune thyroid disease 5
Susceptibility to celiac disease
CTLA4
Susceptibility to celiac disease 03
CTLA4
Susceptibility to systemic lupus erythematosus
CTLA4
DNASE1
FCGR2A
FCGR2B
PTPN22
Susceptibility to lupus nephritis
FCGR2A
Systemic lupus erythematosus susceptibility to 9
CR2
TREX1
Susceptibility to type 1 diabetes 01
PTPN22
Susceptibility to vitiligo-associated multiple autoimmune disease 1
NLRP1
Systemic lupus erythematosus susceptibility to 9
CR2
Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
NLRP1
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
PLCG2
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
WDR1
Cherubism
SH3BP2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Familial cold autoinflammatory syndromes
Familial cold autoinflammatory syndrome 1
NLRP3
Familial cold autoinflammatory syndrome 2
NLRP12
Familial cold autoinflammatory syndrome 3
PLCG2
Familial cold autoinflammatory syndrome 4
NLRC4
Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A
Hereditary pediatric Behçet-like disease
TNFAIP3
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OTULIN
Inflammatory bowel disease
Crohn disease-associated growth failure
IL6
Inflammatory bowel disease 13
ABCB1
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
SEL1L
Interleukin 10 deficiency
Graft-versus-host disease protection
IL10
HIV1 susceptibility
IL10
IL10
Susceptibility to rheumatoid arthritis
IL10
PTPN22
Interleukin 10 receptor deficiency
IL10RA
IL10RB
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
Interleukin-1 receptor antagonist deficiency
IL1RN
Majeed syndrome
LPIN2
Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
MVK
Mevalonic aciduria
MVK
Porokeratosis 3
MVK
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
NLRC4
Proteasome-associated autoinflammatory syndrome
PSMA3
Proteasome-associated autoinflammatory syndrome 1
PSMB8
Proteasome-associated autoinflammatory syndrome 2
POMP
Proteasome-associated autoinflammatory syndrome 3
PSMB4
PSMB9
Proteasome-associated autoinflammatory syndrome 4
PSMG2
Pseudo-TORCH-Syndrom
Pseudo-TORCH syndrome 1
OCLN
Pseudo-TORCH syndrome 2
USP18
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1
STING-associated vasculopathy with onset in infancy
TMEM173
Singleton-Merten syndrome
Singleton-Merten syndrome 1
IFIH1
Singleton-Merten syndrome 2
DDX58
Susceptibility to malignant hyperthermia 5
CACNA1S
Susceptibility to rheumatoid arthritis
IL10
PTPN22
Systemic-onset juvenile idiopathic arthritis
IL6
LACC1
MIF
TNF receptor-associated periodic syndrome
TNFRSF1A
Vasculitis due to ADA2 deficiency
ADA2
Chediak-Higashi syndrome
LYST
Graft-versus-host disease protection
IL10
Griscelli syndrome type 2
RAB27A
Hereditary complement disorders
CR1 deficiency
CR1
Complement C2 deficiency
C2
Complement C3 deficiency
C3
Complement C5 deficiency
C5
Complement C6 deficiency
C6
Complement C7 deficiency
C7
Complement C8 deficiency
C8G
Complement C8 deficiency type 1
C8A
Complement C8 deficiency type 2
C8B
Complement C9 deficiency
C9
Complement component C4 deficiency
Complement component C4A deficiency
C4A
Complement component C4B deficiency
C4B
Partial complement component C4 deficiency
SERPING1
Complement factor D deficiency
CFD
Complement factor I deficiency
CFI
Early pathway complement deficiencies
Complement component C1q deficiency
C1QA
C1QB
C1QC
Complement component C1r/C1s deficiency
C1R
Complement component C1s deficiency
C1S
Hereditary Angioedema
Hereditary Angioedema 1
SERPING1
Hereditary Angioedema 2
SERPING1
Hereditary Angioedema 3
F12
Properdin deficiency, X-linked
CFP
Terminal pathway complement deficiencies
Thrombotic microangiopathies
Hemolytic-Uremic Syndrome
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
PIGA
PLG
THBD
Poor response to Eculizumab
C5
Thrombotic Thrombocytopenic Purpura
ADAMTS13
Immunoglobulin disorders
Agammaglobulinemia, X-linked
BTK
Hyper-IgM syndrome
Hyper-IgM syndrome 1
CD40LG
Hyper-IgM syndrome 2
AICDA
Hyper-IgM syndrome 3
CD40
Hyper-IgM syndrome 4
Hyper-IgM syndrome 5
UNG
Interferonopathy
Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome 1
TREX1
Aicardi-Goutieres syndrome 2
RNASEH2B
Aicardi-Goutieres syndrome 3
RNASEH2C
Aicardi-Goutieres syndrome 4
RNASEH2A
Aicardi-Goutieres syndrome 5
SAMHD1
Aicardi-Goutieres syndrome 6
ADAR
Aicardi-Goutieres syndrome 7
IFIH1
Familial Chilblain lupus
Familial Chilblain lupus 2
SAMHD1
Familial chilblain lupus 1
TREX1
Immunodeficiency 38
ISG15
Pseudo-TORCH syndrome 2
USP18
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
TREX1
Singleton-Merten syndrome
Singleton-Merten syndrome 1
IFIH1
Singleton-Merten syndrome 2
DDX58
Spondyloenchondrodysplasia with immune dysregulation
ACP5
Trichohepatoenteric syndrome 2
SKIV2L
Primary immunodeficiency
Achondroplasia-SCID syndrome
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
PLCG2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1
Hereditary susceptibility to infections
Disorders of mRNA editing
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
HIV resistance
CCR5
CXCR1
HIV1 susceptibility
IL10
IRAK4 deficiency
IRAK4
Invasive pneumococcal disease
Invasive pneumococcal disease 1
IRAK4
Invasive pneumococcal disease 2
IKBKG
Invasive pneumococcal disease 3
TIRAP
Measles infection susceptibility
CD46
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP
Resistance to trypanosoma brucei
APOL1
Septic shock
TNF
Susceptibility to bacteremia 1
TIRAP
Susceptibility to malaria
FCGR2A
FCGR2B
TNF
Susceptibility to mycobacterial diseases
TIRAP
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG
Susceptibility to pseudomonas infection
FCGR2A
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG
IRAK4 deficiency
IRAK4
Immunodeficiency 20
FCGR3A
Immunodeficiency 21
GATA2
Immunodeficiency 31A
STAT1
Immunodeficiency 31B
STAT1
Immunodeficiency 31C
STAT1
Immunodeficiency 33
IKBKG
Immunodeficiency 38
ISG15
Immunodeficiency 41
IL2RA
Immunodeficiency-centromeric instability-facial anomalies syndrome
DNMT3B
Variable immunodeficiency type 7
CR2
Vasculitis due to ADA2 deficiency
ADA2
Wiskott–Aldrich syndrome
WAS
Susceptibility to allergic rhinitis
IL13
Susceptibility to asthma
IL13
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

Azad AK et al. (2012) Innate immune gene polymorphisms in tuberculosis.

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2.

Olsson LM et al. (2012) Copy number variation in autoimmunity--importance hidden in complexity?

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Update: May 9, 2019