specific immunity

1. DISORDERS OF
SPECIFIC
IMMUNITY
Akshai George Paul

2. HUMORAL
IMMUNODEFICIENCIES
B cell defects

3. X-LINKED
AGAMMAGLOBULINEMIA
 Described by Bruton
 First immunodeficiency disease that has been recognized
 Seen only in male infants
Manifestations:-
> Recurrent pyogenic infections mainly from
pneumococci,streprococci,meningococci, pseudomonas etc.

4.  Patient respond to viral infections such as
measles,chickenpox etc,
 All classes of Igs are depleted in the serum
 Marked decrease in B cells in circulation
 CMI is not affected
 Arthritis,hemolytic anemia

5. Management:-
>Maintenance of adequate Igs
>This can be by initial administration of 300 mg of gamma
globulin per kg of body weight in three doses followed by
monthly injection of 100 mg per kg

6. TRANSIENT
HYPOGAMMAGLOBULINEMIA OF
INFANCY
 This is due to abnormal delay in IgG synthesis in some
infants
Manifestations:-
>Recurrent respiratory infections and otitis media are
common.
Management:-
>Prophylactic treatment with gammaglobulins

7. COMMON VARIABLE
IMMUNODEFICENCY
 Late onset hypogammaglobulinemia-manifests in 15-35 yrs
Manifestations:-
>Recurrent pyogenic infections
>Malabsorption and giardiasis are common
>Total immunoglobulin will be low
Management:-
>Administration of gamma globulin IM or IV

8. SELECTIVE IMMUNOGLOBULIN
DEFICENCIES
 One or more immunoglobulin classes are deficient ,others
remain normal or elevated.
 IgA deficiency is the most common
Manifestations:-
>Increased susceptibility to respiratory infections and
steatorrhea.
>It is accompanied by atopic disorders also.

9. Management:-
>Preventive antibiotics in recurrent infections.

10. IMMUNODEFICENCY WITH
HYPER-IGM
 Some are X-linked and some are autosomal recessive.
Manifestations:-
>Low IgA,IgG but with elevated IgM.
>Thrombocytopenia,neutropenia,hemolytic anemia and renal
lesions.
Management
>Intravenous immunoglobulintherapy.

11. TRANSCOBALAMIN II
DEFICENCY
 Autosomal recessive trait.
Manifestations:-
>Megaloblastic anemia and intestinal villous atrophy
>Depleted plasma cells,diminished Igs and impaired
phagocytosis.
Management:-
>Vitamin B12 therapy.

12. CELLULAR
IMMUNODEFIDENCIES
T cell defects

13. DIGEORGE SYNDROME
 Thymic hypoplasia
 Developmental defects involving the endodermal
derivatives of the third and fourth pharyngeal pouches.
 It does not appear as hereditary or familial
 Probably due to any intrauterine infections or any other
complications

14. Manifestations:-
>Neonatal tetany
>Susceptibility to viral,fungal and bacterial infections present.
>Associated with Fallots tetrology and the defects of great
vessels,
>Lymph nodes and spleen depleted of lymphocytes.

15. >Delayed hypersensitivity and graft rejection are depressed
Management:-
>Transplantation of fetal thymus tissue

16. CHRONIC MUSCULOCUTANEOUS
CANDIDIASIS
 Abnormal immunological response to Candida albicans
Manifestations:-
>Chronic candidiasis of mucosa,skin and nail.
>CMI to candida is deficient
Management:-
>Transfer factor therapy,along with amphotericin B

17. PURINE NUCLEOSIDE
PHOSPHORYLASE DEFICENCY
 PNP is involved in sequential degradation of purine to
hypoxanthine and finally to uric avid.
 Autosomal recessive trait.
Manifestations:-
>Hypoplastic anemia and recurrent pneumonia ,diarrhea and
candidiasis.
>Serum uric acid level is low.

18. Management:-
>Allogeneic hematopoietic stem cell transplantation

19. COMBINED
IMMUNODEFICIENCIES
B and T cell defects

20. NEZELOF SYNDROME
 Cellular immunodeficiencies with abnormal
immunoglobulin synthesis
 Group of disorders of varied origin,were depressed CMI is
associated with selctivly elevated,decresed or normal levels of
immunoglobulins.
Manifestation:-
>Patients susceptible to certain fungal,viral and bacterial
infections

21. >Abundant plasma cells are seen in
spleen,intestine,lymphnode etc.
>Thymic dysplasia
>Hemolytic anemia
Management:-
>Histocompatable bone marrow transplantation,transfer
factor and thymus transplantation.Antimicrobial therapy also.

22. ATAXIA
TELENGECTASIA
 Autosomal recessive trait
Manifestations:-
>cerebellar ataxia
>telengectasia
>ovarian dysgenesis
>chromosomal abnormalities
>choriathetoid movements.

23. >death occuars due to sinopulmonar infection
>graft rejection and delayed hypersensitivity reactions are
suppressed
Management:-
>Transfer factor therapy

24. WISCOTT-ALDRICH
SYNDROME
 X-linked disease
 Affected ladies survive the first decade due to infections,
hemorrhage etc.
Manifestations:-
>eczema
>thrombocytopenic purport
>recurrent infections

25. >cellular depletion of thymus with Para cortical areas of
lymph nodes.
Management:-
>Bone marrow transplantation and transfer factor therapy

26. IMMUNODEFIENCY WITH
THYMOMA
 Occuars in adults, consists of benign thymic tumor
 Impaired CMI and agammaglobulinemia
 Aplastic anemia

27. IMMUNODEFICIENCY WITH
SHORT LIMBED DWARFISM
 Autosomal recessive trait
 Short limbed dwarfism
 Ectodermal dysplasia
 Thymic defects
 Susceptibility to infections

28. EPISODIC LYMPHOPENIA
WITH LYMPHOCYTOTOXIN
 Familial trait
 Depression of T cell function by circulating complement
dependent lymphocytotoxin
 Lack immunological memory

29. SEVERE COMBINED
IMMUNO DEFICIENCES
 Autosomal recessive trait
1)Swiss type agammaglobulinemia
>defect at the level of basic stem cell
2)Reticular dysgenesis of de Vaal
>defect is at the level multipotent hemopoetic stem cell
>lymphopenia,neutropenia,thrombocytopenia, anemia and
bone marrow aplasia

30. 3)Adenosine deaminase deficiency
>first immunodeficiency associated with enzymes
>ADA catalyses adenosine to Inosine
>There is marked chondrocyte defects also present in it.