specific immunity

1. DISORDERS OF
SPECIFIC
IMMUNITY
Akshai George Paul

2. AUTOIMMUNE
DISEASES=IMMUNO
DEFICENCY DISEASES
YES/NO

3. HUMORAL
IMMUNODEFICIENCIES
B cell defects

4. 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.

5.  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
Management:-
>Maintenance of adequate Igs

6. >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

7. 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

8. 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

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

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

11. 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.

12. 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.

13. CELLULAR
IMMUNODEFIDENCIES
T cell defects

14. 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

15. 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.

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

17. 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

18. 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.

19. Management:-
>Allogeneic hematopoietic stem cell transplantation

20. COMBINED
IMMUNODEFICIENCIES
B and T cell defects

21. 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

22. >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.

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

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

25. WISCOTT-ALDRICH
SYNDROME
 X-linked disease
 Affected ladies survive the first decade due to infections, hemorrhage etc.
Manifestations:-
>eczema
>thrombocytopenic purport
>recurrent infections
>cellular depletion of thymus with Para cortical areas of lymph nodes.

26. Management:-
>Bone marrow transplantation and transfer factor therapy

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

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

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

30. 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

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