Inherited Immunodeficiencies Flashcards
(26 cards)
Asplenia
Affected Gene: Not known
Immune defect: Absence of spleen
Susceptibility: Encapsulated extracellular bacteria
C3 deficiency
Affected Gene: C3
Immune defect: Lack of C3
Susceptibility: Recurrent infection with Gram(-) bacteria
Factor 1 deficiency
Affected Gene: CF1
Immune defect: Absence of factor 1 and depletion of C3
Susceptibility: Encapsulated bacteria
Deficiencies of C5, C6, C7, C8, C9
Affected Gene: C5, C6, C7, C8, C9
Immune defect: Lack of complement-mediated lysis
Susceptibility: Infections due to Neisseria species
Paroxysmal nocturnal hemoglobinuria
Affected Gene: Somatic and germline mutations in genes involved in phosphatidylinositol biosynthesis
Immune defect: Lack of complement-regulatory proteins DAF, HRF, CD59
Susceptibility: Lysis of erythrocytes by complement
NEMO deficiency(X-linked)
Affected Gene: IKBKG(NEMO, inhibitor of kB kinase gamma)
Immune defect: Impaired activation of NFkB
Susceptibility: Chronic bacterial and viral infections; developmental defects
Chronic granulomatous disease
Affected Gene: NOX1(NADPH oxidase)
Immune defect: Impaired neutrophil function
Susceptibility: Chronic bacterial and fungal infections
MBL deficiency
Affected Gene: MBL(mannose-binding lectin)
Immune defect: Lack of mannose-binding lectin
Susceptibility: Meningitis due to Neisseria meningitidis
NK-cell deficiency
Affected Gene: GATA2
Immune defect: Absence of NK cells
Susceptibility: Herpesvirus infections
Hyper-IgM deficiency
Affected Gene: Activation induced cytidine deaminase(AICDA) or CD40 ligand(CD40LG), or CD40, or IKBKG
Immune defect: No isotype switching or somatic hypermutation in B cells
Susceptibility: Extracellular bacterial and fungal infections
IgG2 deficiency
Affected Gene: Not known
Immune defect: Lack of IgG2
Susceptibility: Encapsulated bacteria
SCID
Affected Gene: Various
Immune defect: Absence of B-cell and T-cell function
Susceptibility: All types of infection
Omenn syndrome
Affected Gene: RAG1 or RAG2 or Artermis
Immune defect: Impaired V(D)J recombination
Susceptibility: All types of infection
MHC Class 1 deficiency(Bare lymphocyte syndrome type 1)
Affected Gene: TAP1 or TAP2
Immune defect: Low MHC class 1 expression
Susceptibility: Respiratory virus infections
Pre-B-cell receptor deficiency
Affected Gene: IGLL1(delta5)
Immune defect: Lack of B cells and antibodies
Susceptibility: Persistent bacterial infections
X-linked-agammaglobulinemia
Affected Gene: BTK(bruton tyrosine kinase)
Immune defect: B cells blocked at pro-B cell stage
Susceptibility: Recurrent bacterial infections
Complete DiGeorge syndrome
Affected Gene: Not known
Immune defect: Absence of thymus and T cells
Susceptibility: All types of infection
APECED
Autoimmune poly-endocrinopathy-cadidiasis-ectodermal dystrophy
Affected Gene: AIRE(autoimmune regulator)
Immune defect: Reduced T-cell tolerance to self antigens
Susceptibility: Autoimmune disease
ZAP-70 deficiency
Affected Gene: ZAP70
Immune defect: T cells that cannot signal through their antigen receptors
Susceptibility: All types of infection
C4A or C4B
Affected Gene: C4A, C4B
Immune defect: Impaired clearance of immune complexes
Susceptibility: Autoimmune disease and infections
Selective IgA deficiency
Affected Gene: Not known
Immune defect: Lack of IgA
Susceptibility: No major susceptibility
SCID with ADA deficiency results in
No T or B cells, general susceptibility
SCID with PNP deficiency results in
No T or B cells, general susceptibility
SCID with X-linked scid
No T cells, general susceptibility, bubble boy
