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پروفسور محمد
حسین سلطان زاده
استاد دانشگاه علوم پزشکی شهید بهشتی
متخصص کودکان ونوزادان
طی دوره بالینی عفونی از میوکلینیک آمریکا
دبیر برگزاری کنفرانس های ماهیانه گروه اطفال
دانشگاه علوم پزشکی شهید بهشتی
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معرفی : دکتر
سهیلا خلیل زاده
به اتفاق اعضای هیئت علمی گروه کودکان
بیمارستان مسیح دانشوری
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تشخیص
Etiology of BCG
–OSIS
30%
:
Known Primary
Immune Deficiency &HIV
( SCID , CGD ,
hyper IgE , …)
70%
:
½ Cases due To
( IL – 12 IFN
δ
axis Defect )
½ ( Unknown )
Disseminated BCG
infection is a typical clinical presentation in patients with an inherited
disorder of the IL-12-IFN-y axis, as BCG is often the first pathogen to which
patients are exposed .
BCG vaccination
results in disseminated infection involving lymph nodes, lungs, kidney, spleen
and other organs. Such infections are referred to as "BCG-osis" and are
considered to be the most serious complication of BCG injection with high(71 %)
rates of mortality.
Interferon-Gamma
(IFN-δ)
is a critical cytokine produced by NK and T-cells. The differentiation of
T-helper cells into IFN-δ-producing
cells is regulated by several cytokines, but principally interleukin
(IL-12).
Deleterious mutations in five genes involved in the IL-12-IFN-δ
circuit have been found in human patients.
The various types
of mutation (dominant or recessive) in these five genes define up to ten
distinct inherited disorders
All are
associated with a rare human syndrome, known as Mendelian susceptibility to
mycobacterial disease (MSMD)
Types of
deficiency
Autosomal
Recessive :
1- IFN
δ
R1Def ( Complete )
2- IFN
δ
R1Def ( Partial)
3- IFN
δ
R2 Def (Complete )
4- IFN
δ
R2 Def ( Partial)
5-- STAT – 1 Def
6-- IL-12 B ( P40
) Def
7-- IL-12 Rβ1
Def
Autosomal
Dominant :
8-- Autosomal
Dominant IFN
δ
R1 Def
Conclusion :
This group of
hereditary disorders should be considered in the evaluation of such patients ,
particularly in countries like Iran , where BCG Vaccination is part of the
National Health Programme and outbreaks of non-typhoid gastroenteritis are
common.
Patients with
severe BCG infections and extra-intestinal non – typhoidal salmonellosis
should be investigated for the Il-12-IFN-δ
circuit .
Treatment :
Anti
Mycobacterial drugs
Recombinant INF
δ
Gene Therapy
B.M
Transplantation
GM- CSF ( Skin
involvement )
Whole Blood Assay
:
Complete IL 12
RB1 deficiency
Mutation : R521X
Final
Diagnosis:
BCG-OSIS Due To
Complete IL12 RB1 Def
