CATCH 22
Cardiac Thymus Cleft defects hypoplasia palate 心脏缺陷 面容异常 胸腺发育不良 腭裂 低钙血症
Abnormal facies
Hypocalcemia
DiGeorge syndrome
boy
14 months
pneumonia CHD （先心病） PID Hypocalcemia
（WAS） XL WASP－mutation Infant Infection IgM 、T count B count normal Thrombocytopinia Eczema
Immune test
Other
（AT ） AR AT－mutation Infante Respiratory tract infection IgG2/4、A、E T count Ataxia telangiectasia
Primary Immunodeficiency Disease （PID）
• Immune system Review • Summary of PID • Illustration of Common PID
Immune system
1.Immune System： Specific / non-specific Immune T cell / B cell Cytosine Immunoglobulin （Ig） Interferon (IFN) Tumor Necrotic Factor (TNF) Interleukin (ILs)
Immune system
2.Immune Organs： Central： Bone Marrow Thymus Peripheral: Lymph node Spleen Tonsil …
Laboratory Test
3.Specific Immune System Function Test Lymphocytes Counts Immunological classification （CD） Factor: Cytosine / Immunoglobulin Reaction Test: OT、ASO、etc. X ray: Thymus Biopsy : lymph node (if necessary)
PID－General Character
（for diagnosis）
1.Inheritance Pattern：AD、AR、XL、Other 2.Pathogeny： Gene Mutation/delete 3.Age of patients：earlier 4.Majar Manifestations：Infection tendency Vaccinate disease、GVHD 5.Immune Test：Cells、Ig、Cytosine、OT、ASO 6.Other Character：Complications、Prognosis
A
C
B
D
Figure 1 WAS患者淋巴细胞、血小板扫描电镜图（8000） A：正常淋巴细胞表面微绒毛密集、细长 B：WAS患者淋巴细胞表面微绒毛稀少、粗短及微绒毛中断样改变 C：正常血小板直径2-4，表面有微绒毛突起 D：WAS患者血小板小（直径1.8）、微绒毛缺乏。（左侧为微绒毛缺乏的“光头淋巴细胞”）
Common PID Illustration
P179：Paragraph P180：Table 8－6
Common Humoralimmunodeficiency
XLA
Interitance
Transient Hypo-
Selective
IgA Deficiency AR/AD
(Bruton) gammaglobulinaemia XL Family history
Normal Thymus
6个月以内的 婴儿可见胸腺 阴影，一般在 10g以上 如不见阴影， 多在4g以内， 提示胸腺发育 不良
DiGeorge syndrome （Thymus hypoplasia）
Severe Combined Immunodeficiency （SCID)
XL－SCID AR－SCID ADA Deficiency
AR Adenosine deaminase dATP accumulate Infant
Combined Immunodeficiency （with specific characters ）
Wiskott-Aldrich-syndrome Inheritance Pathogeny Age Clinical Ataxia-telangiectasia
IgA alone
Other
IVIG
Transient
allergic disease
Common Cellular immunodeficiency
Inheritance Pathogeny Age Clinical findings Immune Test
Other DiGeorge AD 22/ter－delete Infant Infection tendancy B cell / Ig normal T cell / function ge Clinical Findings Immune Test
X/btk
> 6 month purulent
B ？
Infant ＝Bruton Ig B cell＋
Th2 ？
infant mucous membrane
infections
classic
infection tendancy
Inheritance Pathogeny
XL AR IL2、4、7、9R JaK3 （ILR mutation） （mutation）
Age Clinical
Immune test Other
Neonate Neonate Severe infection Vaccinate disease Graft Versus Host Disease T / Ig absence T / B cell B cell count normal Ig early death Part survival （if without HSCT）