Primary Immunodeficiency Disease （ PID ）

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

Common PID Illustration P179：Paragraph P180：Table 8－6

Common Humoralimmunodeficiency XLA Transient Hypo- Selective (Bruton) gammaglobulinaemia IgA Deficiency Interitance XL Family history AR/AD Pathogeny X/btk B ？ Th2 ？ Age > 6 month Infant infant Clinical Findings purulent ＝Bruton mucous membrane infections infection tendancy Immune Test classic Ig IgA alone B cell＋ Other IVIG Transient allergic disease

Common Cellularimmunodeficiency DiGeorge Inheritance AD Pathogeny 22/ter－delete Age Infant Clinical findings Infection tendancy Immune Test B cell / Ig normal T cell / function Other CATCH22 syndrome

CATCH 22 Cardiac defects Abnormal facies Thymus hypoplasia Cleft palate Hypocalcemia 心脏缺陷面容异常胸腺发育不良腭裂低钙血症

DiGeorge syndrome boy 14 months pneumonia CHD （先心病） PID Hypocalcemia

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 Inheritance XL AR AR Pathogeny IL2、4、7、9R JaK3 Adenosine （ILR mutation）（mutation） deaminase dATP accumulate Age Neonate Neonate Infant Clinical Severe infection Vaccinate disease Graft Versus Host Disease Immune test T / Ig absence T / B cell B cell count normal Ig Other early death Part survival （if without HSCT）

Combined Immunodeficiency（with specific characters ） Wiskott-Aldrich-syndromeAtaxia-telangiectasia （WAS）（AT） Inheritance XL AR Pathogeny WASP－mutation AT－mutation Age Infant Infante Clinical Infection Respiratory tract infection Immune test IgM 、T count IgG2/4、A、E B count normal T count Other Thrombocytopinia Ataxia Eczema telangiectasia

A C D B 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”）

WAS (Jun-nan Xie)

Wiskott Aldrich Syndrome Patient Photo thrombocytopenic purpura eczema

Ataxia-talengiectaxia Talengiectaxia Ataxia

PID －Diagnosis 1.History 2.Physical examination 3.Laboratory Test Lymphocyte counts、Cytokines、Ig X－ray: thymus Biopsy: lymph node 4.Comprihensive analysis：1＋2＋3 5.Gene test

PID－Treatment 1.Substitute therapy: Immunoglobulin 2.Immune system reconstraction: Thymus transplantation Hematopoietic Stem Cell Transplantation 3.Gene therapy

Primary Immunodeficiency Disease （ PID ）