Immunodeficiency syndromes Flashcards Preview

Pediatrics > Immunodeficiency syndromes > Flashcards

Flashcards in Immunodeficiency syndromes Deck (13)
1

Angioedema vs Urticaria

Similar

But angioedema lesions appear in deeper layers of skin (subQ)

2

Chronic urticaria

Hives lasting > 6 weeks

3

X linked agammaglobulinemia

B cell

X linked recessive

Defect in Bruton's tyrosine kinase (need for B cell signaling)

Recurrent respiratory tract infections > 6 mo

Nl T-cells (CD3+)
low B-cells (CD19+)

Hypoplasia of tonsils and adenoids
No lymphadenopathy or splenomegaly

Tx - IVIG regular infusions can have nl life
DO NOT give live attenuated virus vaccines

4

IgA deficiency

B cell

#1 humoral antibody deficiency

Possibly AD inheritance

Recurrent respiratory + UTI + diarrhea

Careful when admin blood products - can develop anti-IgA antibodies causing anaphylactic rxn

5

3 week old infant p/w generalized seizure

No issues at birt, good prenatal care

No issues in infancy except seizure

PE:
- hypertelorism
- low set ears
- micrognathia
- fish mouth

T cell

DiGeorge syndrome
- results from underdev of 3rd and 4th pharyngeal pouches --> hypoplasia of thymus and parathyroids
- Chromosome 22 q11 deletion is cause

Presentation:
- usually present with hypocalcemic seizure (tetany)
- recurrent viral/fungal infections

PE:
- epicanthal folds to eyes
- hypertelorism of eyes
- low set ears
- bifid uvula
- short philtrum
- micrognathia
- fish mouth
- confenital heart dz (ASD, VSD)

Tx
- thymic tissue transplant
- HLA identical bone marrow transplant to help w/ immune deficiency

DDx - FAS has similar facial features

6

Coarse facies

Cold (noninflammed) staph abscesses

Retained primary teeth

Increased IgE

Eczema

T cell

Hyper IgE syndrome (Job's syndrome)

Th1 cells can't make IFN-gamma --> inability of neutrophils to respond to chemotactic stimuli

Increased IgE

7

FTT

Chronic diarrhea

Thrush

Absence of thymic shadow

Absence of germinal centers and B cells

B and T cell

SCID

Defective IL-2 receptor is most common
- also ADA deficiency

8

3 year old child p/w ataxia, masklike facies, drooling, tics, irregular eye mvmts

Ataxia started at 1 yo

Eyes have telangectasias

Hx of recurrent respiratory infections (IgA deficiency)

B and T cell

Ataxia telangiectasia
- AR
- Mutated gene on Chr 11

Ataxia (cerebellar ataxia is 1st neuro sign)
Telangiectasia of eyes and skin
Chronic sinopulmonary disease
Endocrine abnormalities

PE:
- masklike facies
- drooping
- tics
- irregular eye mvmts

Labs:
- low IgA, IgE, IgM
- increased AFP

9

Severe pyogenic infections early in life

B and T cell

Hyper IgM syndrome

Increased IgM
LOW IgG, IgA, IgE

10

1 year infant p/w severe eczema

Draining ears
Petechial rash

Recurrent infections, including otitis media and pneumonia

B + T cell

Wiskott Aldrich
- X linked recessive
- T cells can't recognize actin cytoskeleton

TIE syndrome:
- Thrombocytopenia
- Recurrent Infection
- Eczema

Labs:
- increased IgA and IgE
- low IgG and IgM

Tx:
- splenectomy for thrombocytopenia
- bone marrow transplant

11

Recurrent bacterial infections

Absent pus formation

Delayed separation of umbilical cord

Phagocyte dysfunction

Leukocyte adhesion deficiency

Defect in LFA-1 integrin on phagocytes

Will have leukocytosis w/ neutrophil predominance
BUT infected tissue doesn't have neutrophils
- leukocytes (esp neutrophils) can't exit blood vessels and migrate to areas of infection or inflammation
- therefore, neutrophils can't get to infected tissues

12

Recurrent pyogenic infections by staph and strep

Partial albinism

Peripheral neuropathy

Phagocyte dysfunction

Chediak Higashi
- AR
- Defect in LYST gene
- microtubule dysfunction in phagosome-lysosome

Giant granules in neutrophils

Tx:
- ppx w/ daily TMP/SMX
- daily ascorbic acid

13

Increased susceptibility to catalase + organisms (S. aureus, E coli, Aspergillus)

Chronic granulomatous disease

Infections susceptible:
S aureus
Serratia
Burkholderia
Klebs
Aspergillus

Phagocyte dysfunction

Lack of NADPH oxidase --> dec ROS --> no respiratory burst in neutrophils!

Abnormal dihydrorhodamine (DHR) flow cytometry test

Other sx:
- lymphadenopathy
- hypergammaglobulinemia
- hepatomegaly
- splenomegaly
- ACD
- underweight
- chronic diarrhea
- short stature
- gingivitis
- dermatitis

Tx:
- daily TMP/SMX
- gamma IFN 3x/wk
- bone marrow transplant is curative