Primary Immunodeficiency Diseases [primární imunodeficience]

topical
48
Terms

kongenitální imunodeficience
kongenitální imunodeficitní stavy
kongenitální imunodeficity
primární imunitní deficity
primární imunodeficitní onemocnění
primární imunodeficitní stavy
primární imunodeficitní syndromy
primární imunodeficity
primární poruchy imunitního systému
primární protilátkové deficience
primární protilátkové deficity
primární protilátkové imunodeficience
primární protilátkové imunodeficity
vrozené imunodeficience
vrozené imunodeficitní stavy
vrozené imunodeficity

 

Congenital Immunodeficiency Disease
Congenital Immunodeficiency Diseases
Congenital Immunodeficiency Disorder
Congenital Immunodeficiency Disorders
Congenital Immunodeficiency Syndrome
Congenital Immunodeficiency Syndromes
Inherited Immunodeficiency Disease
Inherited Immunodeficiency Diseases
Inherited Immunodeficiency Disorder
Inherited Immunodeficiency Disorders
Inherited Immunodeficiency Syndrome
Inherited Immunodeficiency Syndromes
Primary Antibody Deficiencies
Primary Antibody Deficiency Disorder
Primary Antibody Deficiency Disorders
Primary Antibody Deficiency Syndrome
Primary Antibody Deficiency Syndromes
Primary Immune Deficiency
Primary Immune Deficiency Disease
Primary Immune Deficiency Diseases
Primary Immune Deficiency Disorder
Primary Immune Deficiency Disorders
Primary Immune Deficiency Syndrome
Primary Immune Deficiency Syndromes
Primary Immunodeficiency Disease
Primary Immunodeficiency Disorder
Primary Immunodeficiency Disorders
Primary Immunodeficiency Syndromes

Definition

Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations.

DUI
D000081207 MeSH Browser
CUI
M000650094
Previous indexing
Immunologic Deficiency Syndromes (1972-2019)
History note
2020
Public note
2020

C Diseases
C16.320.051 Alagille Syndrome 19
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 330
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 99
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 2
C16.320.365 Hemoglobinopathies 68
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.540 Marfan Syndrome 105
C16.320.577 Muscular Dystrophies 140
C16.320.728 Osteochondrodysplasias 125
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798.250 Ataxia Telangiectasia 47
C16.320.798.313 Bloom Syndrome 11
C16.320.798.375 Chediak-Higashi Syndrome 4
C16.320.798.688 Job Syndrome 15
C16.320.798.875 Wiskott-Aldrich Syndrome 20
C16.320.812 Pycnodysostosis 2
C16.320.925 Werner Syndrome 14
C20.673.088 Agammaglobulinemia 114
C20.673.430 Dysgammaglobulinemia 10
C20.673.480 HIV Infections 2 652
C20.673.627 Lymphopenia 44
C20.673.795.250 Ataxia Telangiectasia 47
C20.673.795.313 Bloom Syndrome 11
C20.673.795.375 Chediak-Higashi Syndrome 4
C20.673.795.688 Job Syndrome 15
C20.673.795.875 Wiskott-Aldrich Syndrome 20

Activated PI3K-delta Syndrome Disease MeSH Browser

Antibody Deficiency due to Defect in CD19 Disease MeSH Browser

B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Disease MeSH Browser

CD8 Deficiency, Familial Disease MeSH Browser

Cartilage hair hypoplasia like syndrome Disease MeSH Browser

Cartilage-hair hypoplasia Disease MeSH Browser

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Disease MeSH Browser

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Disease MeSH Browser

Ectodermal dysplasia, hypohidrotic, with immune deficiency Disease MeSH Browser

Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency Disease MeSH Browser

Griscelli syndrome type 2 Disease MeSH Browser

IRAK4 Deficiency Disease MeSH Browser

Immune Deficiency, Familial Variable Disease MeSH Browser

Immunodeficiency due to Defect in CD3-Zeta Disease MeSH Browser

Immunodeficiency syndrome, variable Disease MeSH Browser

Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells Disease MeSH Browser

Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein Disease MeSH Browser

Kotzot-Richter syndrome Disease MeSH Browser

MYD88 Deficiency Disease MeSH Browser

NEMO mutation with immunodeficiency Disease MeSH Browser

Neutrophil Immunodeficiency Syndrome Disease MeSH Browser

Purine Nucleoside Phosphorylase Deficiency Disease MeSH Browser

Riddle Syndrome Disease MeSH Browser

Roifman syndrome Disease MeSH Browser

Roifman-Chitayat Syndrome Disease MeSH Browser

Schimke immunoosseous dysplasia Disease MeSH Browser

Splenic Hypoplasia Disease MeSH Browser

T cell immunodeficiency primary Disease MeSH Browser

Thumb Agenesis, Short Stature, And Immunodeficiency Disease MeSH Browser

Tuftsin Deficiency Disease MeSH Browser

WHIM syndrome Disease MeSH Browser