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Immunologic failures - Coggle Diagram
Immunologic failures
Innate errors of immunity
Primary immunodeficiency
many infections during
chilhood
inherited gene defects
recessive or X linked
Innate
Phagocytosis
What is a phagocyte?
Granulocytes, monocytes, macrophages, eosinphils
Engulf pathogens and apoptotic cells
Produce cytokines and chemokines to initiate an inflammatory response
Participate in wound healing
Provide activatory signals to adaptive lymphocytes (antigen-presentation, cytokines)
Traffic to sites of infection or inflammation
Chronic granulomatous disease (CDG)
defective in phagocyte superoxide production leading to impaired microbial killing
recurrent severe bacterial and fungal infections and tissue granulom formation
Hypergammaglobulinemia
NADPH oxidase
defective ROS
inhabilidad de matar o desactivar microorganismos ingeridos
disminución del estallido respiratorio
deficiencia neutrofila y macrofilica de la proudcción de superoxido
mode of inheritance
x linked
CYBB at Xp21.1
pneumonia
liver abscess
perianal abscess
skin infections
osteomyelitis
IBD
granulomas
sites of infections
surgical wounds
hollow viscera
bladder and uretral obstructions
diarrhea, malabsorption, abdominal pain, grwth delay, hypoalbuminemia
infections during childhood and adulthood
catalase positive organisms
5 more items...
AR
NCF1 at 7q11.23
Clinical manifestations
pneumonia
liver abscess
skin infections
lymphadenitis
osteomyelitis
IBD
Diagnosis
NTBR
DHR assay
Treatment
bone narrow transplantations
TMP-SMX
Prophylactic itraconazole
antibiotics
surgery
recombinat IFN y
Adhesion de leucitos
LFA 1
ligand
ICAM 1
integrin
bind to cell adhesion mollecular and extacellullar matrix
tissue distribution
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CD18/54
ICADM 2
CD102
Leukocyte adhesion defect (LAD-1)
Mutation in CD18 gene (ITGB2)
21q22
AR
previene la migración de leucocitos a los tejidos durante la infección
Alterations
Defective PMN adherence
Impaired exit of neutrophils from the circultation
Low NK and CTL activity
Inability to form pus and erythema at the site of infection
Loss of CR3 for bacterial killing
Uninhibited IL-23 production by tissue macrophagues
Severe
Delayed umilical cord separation
2 werks postpart
Omphalitis
Persistent neutrohilic leukocytosis
15 000
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Recurrent infections
S aureus
pseudonomas aeruginosa
klebsiella spp
Oral ulcers, severe periodontitis, gingivitis with apial bone loss
impetigo
ulcerative gastrointestinal disorders
Moderate
residual CD18 function
live beyond chilhood
does not have umilical cord separation
less frequent and severe infections
Diagnosis
Clinical findings
Blood count
Biopsy
Flow cytometry
CD18
CD11a
CD11b
CD11c
PCR
ITGB2
The baby present alterations after birth
treatment
bone narrow transplantation
antibiotics
surgery
tissue grafts
LFA 2
ligand
ausencia de sialul Lewis X
pyogenis or pus forming bacteria
Adaptative
Humoral defects (antibodies)
most common
X linked (Bruton) aggamaglobulinemia
mutation in BTK
Clinical manifestations
Panhypogammaglobulinemia & B cell depletion
Recurrent respiratory infections at age 1
Bronchiectasis
bacterial sepsis, meningitis, osteomyelitis, septic arthritis
diarrhea due to G lamblia infection
Epidididymitis, prostatitis and urthral strictures by Mycoplasma and Chlamydia
skin infections
cellulitis, boils, impetigo
echovirus and coxsackie infections
Hyper IgM syndromes
AID
Activation induced cytidine deaminase
12p13
characteristics
pyogenic extracellular bacteria
enlargement of lymph nodes and spleen
Giant germinal centers
autoimmunity
hemolytic anemia
thrombocytopenia
autoimmune hepatitis
CD40/CD40L
Mutation in Xq26
Characteristics
Pyogenic extracellular bacteria
mycobacteria
Pneumocystis jirovecii
recurrent upper and lower respiratory tract infections
neutropenia with oral ulcers, perirectal abscesss
opportunistic infections
Infections with CMV, adenovirus
chronic diarrhea
lymphoid hyperplasia during active infections
Common variable immunodeficiency (CVID)
IgA deficiency
most common
IgA levels <7 mg/dl
recurrent respiratory infections (might persist during adulhood)
elevated igE levels and allergy
autoimmunity
malignant epithelial tumors
gastric/colonic adenocarcinoma
Hodking disease
acute lymphoblastic leukemia
TACI
Patient older than 4 years (mostly diagnosed after 30)
Antibody response to vaccination depressed or absent
normal number os circulating B cells
encapsulated pyogenic bacteria
B lymphocite hyplerplasia, splenomegaly and intestinal hyperplasia during axtive infections
recurrent sinusitis, otisit media, mil bronchitis
intermiten/ chronic diarrhea to G lamblia
Deficient production of more than one major antibody class
Severe combined immunodeficiencies (SCID)
occurs at 4-6 months of age
opportunistic infections
T cell lymphopenia
oral thrush
chronic diarrhea
failure to thrive
T- B+ NK-
Gamma chain
X linked
Characteristics
3-6 months of age
Failure to thrive
fatal and microbial fungal infections
IL-2RY
T- B+ NK+
IL7Ra
AR
T- B- NK -
adenosine desaminase
AR
characteristics
brain anormalies
developmental delay and bone
liver, lung, kidney anormalies
T- B- NK+
RAG1/2
AR
Characteristics
Omenn syndrome
30% of all cases
Secondary immunodeficiency
acquired
enviromental factors
infiltracion de la medula osea
radiación
quimioterapia
chronic factors
infecciones por VIH
Malnutrición
asplenia
