|
|
Line 3: |
Line 3: |
| {{CMG}}; {{AE}}{{ZAS}} | | {{CMG}}; {{AE}}{{ZAS}} |
|
| |
|
| ==Algorithm== | | ==Differentiating [Disease name] from other Diseases== |
| {{familytree/start}}
| | [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3]. |
| {{familytree | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | | | |A01=Diseases Of Immune Dysregulation:(A) Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility }}
| |
| {{familytree | | | | | | | |,|-|-|-|-|-|^|-|-|-|-|-|.| | | | | | | | | | | | | | | |}}
| |
| {{familytree | | | | | | | B01 | | | | | | | | | | B02 | | | | | | | | | | | | | | |B01=Hemophagocytic Lymphohistiocytosis(HLH)|B02=Susceptibility to EBV }}
| |
| {{familytree | | | | |,|-|-|^|-|-|.| | | | | |,|-|-|^|-|-|.| | | | | | | | | | | | |}}
| |
| {{familytree | | | | C01 | | | | C02 | | | | |!| | | | | C03 | | | | | | | | | | | |C01=Hypopigmentation|C02=Familial Hemophagocytic Lymphohistiocytosis Syndromes|C03=EBV Associated with HLH }}
| |
| {{familytree | | | | |!| | | | |!| | | | | | |!| | | | |!| | | | | | | | | | | | | |}}
| |
| {{familytree | | | | |)| D01 | |)| D02 | | | |)| D03 | |)| D04 | | | | | | | | | | |D01=Chediak Higashi Syndrome:LYST|D02=Perforin Deficiency(FHL2)|D03=RASGRP1 Deficiency|D04=XL,XLP1.SH2DIA }}
| |
| {{familytree | | | | |!| | | | |!| | | | | | |!| | | | |!| | | | | | | | | | | | | |}}
| |
| {{familytree | | | | |)| E01 | |)| E02 | | | |)| E03 | |)| E04 | | | | | | | | | | |E01=Griscelli Syndrome type2:RAB27a|E02=UNCBD/Munc13-4 deficiency(FHL3)|E03=CD70 Deficiency|E04=XL,XLP2,XIAP }}
| |
| {{familytree | | | | |!| | | | |!| | | | | | |!| | | | |!| | | | | | | | | | | | | |}}
| |
| {{familytree | | | | |)| F01 | |)| F02 | | | |)| F03 | |)| F04 | | | | | | | | | | |F01=Hermansky Pudlak Syndrome type2:AP3B1|F02=Syntaxin II Deficiency(FHL4)|F03=CTPS1 Deficiency|F04=AR, CD27 Deficiency }}
| |
| {{familytree | | | | |!| | | | |!| | | | | | |!| | | | |!| | | | | | | | | | | | | }}
| |
| {{familytree | | | | |`| G01 | |`| G02 | | | |)| G03 | |`| G04 | | | | | | | | | | |G01=Hermansky Pudlak Syndrome type10|G02=STXBP2/Munc18-2 Deficiency|G03=RLTPR (CARMIL2) Deficiency|G04=FAAP24 Deficiency }}
| |
| {{familytree | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | |}}
| |
| {{familytree | | | | | | | | | | | | | | | | |)| H01 | | | | | | | | | | | | | | | |H01=ITK Deficiency }}
| |
| {{familytree | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | |}}
| |
| {{familytree | | | | | | | | | | | | | | | | |)| I01 | | | | | | | | | | | | | | | |I01=MAGT1 Deficiency }}
| |
| {{familytree | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | |}}
| |
| {{familytree | | | | | | | | | | | | | | | | |`| J01 | | | | | | | | | | | | | | | |J01=PRKCD Deficiency }}
| |
| {{familytree/end}}
| |
|
| |
|
| ==Pathophysiology==
| | OR |
|
| |
|
| ===Pathology===
| | [Disease name] must be differentiated from [differential dx1], [differential dx2], and [differential dx3]. |
| *AAA
| |
| *BBB
| |
| **CCC
| |
|
| |
|
| * abc
| | OR |
| * def
| |
|
| |
|
| {| class="wikitable" | | As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4]. |
| ! colspan="2" |Diseases | | |
| !A | | ===Differentiating [disease name] from other diseases on the basis of [symptom 1], [symptom 2], and [symptom 3]=== |
| !B | | |
| | On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6]. |
| | {| |
| | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" |
| | ! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|Diseases |
| | | colspan="6" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Clinical manifestations''' |
| | ! colspan="7" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Para-clinical findings |
| | | colspan="1" rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Gold standard''' |
| | ! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|Additional findings |
| | |- |
| | | colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Symptoms''' |
| | ! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical examination |
| | |- |
| | ! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab Findings |
| | ! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging |
| | ! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Histopathology |
| | |- |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 1 |
| | ! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 2 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom 3 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 1 |
| | ! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 2 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 3 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 1 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 2 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 3 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 1 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 2 |
| | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 3 |
| | |- |
| | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 1 |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | |- |
| | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 2 |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | |- |
| | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 3 |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" |
| | !Diseases |
| | !Symptom 1 |
| | ! colspan="1" rowspan="1" |Symptom 2 |
| | !Symptom 3 |
| | !Physical exam 1 |
| | ! colspan="1" rowspan="1" |Physical exam 2 |
| | !Physical exam 3 |
| | !Lab 1 |
| | !Lab 2 |
| | !Lab 3 |
| | !Imaging 1 |
| | !Imaging 2 |
| | !Imaging 3 |
| | !Histopathology |
| | |'''Gold standard''' |
| | !Additional findings |
| |- | | |- |
| ! rowspan="2" |ABC
| | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 4 |
| |Type 1 | | | style="background: #F5F5F5; padding: 5px;" | |
| | | | | style="background: #F5F5F5; padding: 5px;" | |
| | | | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| |- | | |- |
| |Type 2 | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 5 |
| | | | | style="background: #F5F5F5; padding: 5px;" | |
| | | | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| |- | | |- |
| !DEF
| | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Differential Diagnosis 6 |
| | | | | style="background: #F5F5F5; padding: 5px;" | |
| | | | | style="background: #F5F5F5; padding: 5px;" | |
| | | | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| | | style="background: #F5F5F5; padding: 5px;" | |
| |} | | |} |
|
| |
| ==Algorithm==
| |
| {{Family tree/start}}
| |
| {{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |A01=Combined Immunodeficiencies Generally Less Pronounced than Severe Combined Immunodeficiency }}
| |
| {{Family tree | | | | | |,|-|-|-|-|-|v|-|-|-|-|-|-|-|-|v|-|-|-|-|^|-|-|-|v|-|-|-|-|-|-|-|-|-|v|-|-|-|-|-|.| | | | | | | | | | | | }}
| |
| {{Family tree | | | | | B01 | | | | B02 | | | | | | | B03 | | | | | | | B04 | | | | | | | | B05 | | | | B06 | | | | | | | | | | |B01=Low CD4: MHC II Expression?|B02=Low CD8|B03=Low B Cells|B04=Ig: Often Normal|B05=Ig Low|B06=Normal Ig but Low Specific Antibody Response}}
| |
| {{Family tree | | | |,|-|^|-|.| | | |!| | | | | | | | |!| | | | | | | | |!| | | | | | | | | |!| | | |,|-|^|-|.| | | | | | | | | | }}
| |
| {{Family tree | | | C01 | | C02 | | |!| | | | | | | | |!| | | | | | | | |!| | | | | | | | | |!| | | H01 | | H02 | | | | | | | | |C01=Absent: MHCII Deficiency|C02=Present: XL: MAGT 1 Def:, AR: LCK Def:, AD: UNC119 Def:|H01=IL2IR Def:|H02=MALT1 Def: }}
| |
| {{Family tree | | | | | | | | | | | |!| | | | | | | | |!| | | | | | | | |!| | | | | | | | | |!| | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree | | | | | | | |,|-|-|-|+|-|-|-|.| | | | |!| | | | | | | | |!| | | | | | | | | |!| | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree | | | | | | | D01 | | D02 | | D03 | | | |!| | | | | | | | |!| | | | | | | | | |!| | | | | | | | | | | | | | | | | |D01=CD8 def:|D02=ZAP70 def:|D03=MHC1 def:}}
| |
| {{Family tree | | | | | | | | |,|-|-|-|v|-|-|-|v|-|-|-|+|-|-|-|.| | | | |!| | | | | | | | | |!| | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree | | | | | | | | E01 | | E02 | | E03 | | E04 | | E05 | | | |!| | | | | | | | | |!| | | | | | | | | | | | | | | | | |E01=DOCK8 def:|E02=MST1 def:|E03=IL21 def:|E04=NIK def:|E05=Moesin def:}}
| |
| {{Family tree | | | | | | | | | | | | | |,|-|-|-|v|-|-|-|v|-|-|-|v|-|-|-|+|-|-|-|.| | | | | |!| | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree | | | | | | | | | | | | | F01 | | F02 | | F03 | | F04 | | F05 | | F06 | | | | |!| | | | | | | | | | | | | | | | | |F01=CD3Y def:|F02=RHOH def:|F03=TCR alpha def:|F04=BCL11B def:|F05=OX40 def:|F06=LAT def}}
| |
| {{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree | | | | | | | | | | | | | | | | | | | |,|-|-|-|v|-|-|-|v|-|-|-|v|-|-|-|v|-|-|-|+|-|-|-|v|-|-|-|.| | | | | | | | | | }}
| |
| {{Family tree | | | | | | | | | | | | | | | | | | | G01 | | G02 | | G03 | | G04 | | G05 | | G06 | | G07 | | G08 | | | | | | | | |G01=DOCK2 def:|G02=CARDII def:(LOF)|G03=BCL10 def:|G04=IKBKB Def:|G05=ICOS def:|G06=TFRC def:|G07=RelB def:|G08=CD40 ligand def:(CD154)}}
| |
| {{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{Family tree/end}}
| |
|
| |
| ==Algorithm==
| |
| {{familytree/start}}
| |
| {{familytree | | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | |A01=Diseases of Immune Dysregulation: (B) Syndromes with Autoimmunity and Others }}
| |
| {{familytree | | | | | | | | |,|-|-|-|-|-|-|-|-|-|^|-|-|-|-|-|-|-|-|.| | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | B01 | | | | | | | | | | | | | | | | | B02 | | | | | | | | | |B01=Syndromes with Autoimmunity|B02=Immune Dysregulation with Colitis: IBD, Normal Tc & Bc }}
| |
| {{familytree | | | | | | | | |!| | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | C01 | | | | | | | | | | | | | | | | | |)| C02 | | | | | | | |C01=Increased CD4-CD8-TCR alpha/beta (Double Negative T cells)|C02=IL10 Deficiency, IL10, AR }}
| |
| {{familytree | | |,|-|-|-|-|-|+|-|-|-|-|-|-|-|-|-|-|-|.| | | | | | |!| | | | | | | | | | | }}
| |
| {{familytree | | D01 | | | | D02 | | | | | | | | | | D03 | | | | | |)| D04 | | | | | | | |D01=Yes|D02=Occassionally|D03=NO: Regulatory T cells Defects?|D04=IL10Ra Deficiency, IL10RA, AR }}
| |
| {{familytree | | |!| | | | | |!| | | | | | | | |,|-|-|^|-|-|.| | | |!| | | | | | | | | | | }}
| |
| {{familytree | | |)| E01 | | |)| E02 | | | | | E03 | | | | E04 | | |)| E05 | | | | | | | |E01=ALPS, Autoimmune Lymphoproliferative Syndrome|E02=LRBA Deficiency|E03=NO|E04=YES|E05=IL10Rb Deficiency, IL10RB, RA }}
| |
| {{familytree | | |!| | | | | |!| | | | | | | | |!| | | | | |!| | | |!| | | | | | | | | | | }}
| |
| {{familytree | | |)| F01 | | |`| F02 | | | | | |)| F03 | | |)| F04 |`| F05 | | | | | | | |F01=ALPS-FAS TNFRSF, AD or AR|F02=STAT3 GOF mutation,STAT3 AD|F03=Autoimmune Polyendocrinopathy with candidiasis & ectodermal dystrophy: APECED (APS-1)|F04=IPEX Immune dysregulation, Polyendocrinopathy,enteropathy,X-linked FOXP-3|F05=NFATS haploinsufficiency, NAFTS, AD }}
| |
| {{familytree | | |!| | | | | | | | | | | | | | |!| | | | | |!| | | | | | | | | | | | | | | }}
| |
| {{familytree | | |)| G01 | | | | | | | | | | | |)| G02 | | |)| G03 | | | | | | | | | | | |G01=ALPS-FASLG TNFSF6, AR|G02=ITCH Deficiency, ITCH, AR|G03=CD25 Deficiency, IL2RA, AR }}
| |
| {{familytree | | |!| | | | | | | | | | | | | | |!| | | | | |!| | | | | | | | | | | | | | | }}
| |
| {{familytree | | |)| H01 | | | | | | | | | | | |)| H02 | | |)| H03 | | | | | | | | | | | |H01=ALPS-Caspase10, Casp10, AD|H02=ZAP70 combined hylomorphic and activation mutations, ZAP70, AR|H03=CTLA4 deficiency (ALPSV) CTLA4, AD }}
| |
| {{familytree | | |!| | | | | | | | | | | | | | |!| | | | | |!| | | | | | | | | | | | | | | }}
| |
| {{familytree | | |)| I01 | | | | | | | | | | | |)| I02 | | |`| I03 | | | | | | | | | | | |I01=ALPS-Caspase8, Casp8, AR|I02=Tripeptidyl-peptidase II deficiency, TPP2, AR|I03=BACH2 deficiency. BACH2, AD }}
| |
| {{familytree | | |!| | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree | | |`| J01 | | | | | | | | | | | |)| J02 | | | | | | | | | | | | | | | | | |J01=FADD deficiency, FADD, AR|J02=JAK1 GOF, JAK1, AD }}
| |
| {{familytree | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | | | |`| K01 | | | | | | | | | | | | | | | | | |K01=Prolidase deficiency. PEPD, AR }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | ||}}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree/end}}
| |
|
| |
|
| |
| ==Algorithm==
| |
| {{familytree/start}}
| |
| {{familytree | | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | |A01=Defects in Intrinsic & Innate Immunity: (A) Bacterial and Parasitic Infections }}
| |
| {{familytree | | | | |,|-|-|-|-|-|-|-|-|-|-|-|-|-|+|-|-|-|-|-|-|-|-|-|-|-|-|-|.| | | | | | }}
| |
| {{familytree | | | | B01 | | | | | | | | | | | | B02 | | | | | | | | | | | | B03 | | | | |B01=Predisposition to Invasive Bacterial Infections (pyrogens)|B02=Predisposition to Parasitic & Fungal Infections|B03=Others }}
| |
| {{familytree | | | | |!| | | | | | | | | | |,|-|-|^|-|-|.| | | | | | | | | | |!| | | | | | }}
| |
| {{familytree | | | | |)| C01 | | | | | | | |!| | | | | |!| | | | | | | | | | |)| C02 | | |C01=IRAK4 Deficiency, IRAK4, AR, MyD88 Deficiency, MYD88, AR|C02=Osteopetrosis }}
| |
| {{familytree | | | | |!| | | | | | | | | | |!| | | | | |!| | | | | | | | | | |!| | | | | | }}
| |
| {{familytree | | | | |)| D01 | | | | | | | |)| D02 | | |)| D03 | | | | | | | |)| D04 | | |D01=IRAK-1 Deficiency:IRAK1,XL|D02=Predisposition to mucocutaneous candidiasis(CMC)|D03=CARD9 Deficiency, CARD9, AR|D04=Hyderadenitis Suppurativa }}
| |
| {{familytree | | | | |!| | | | | | | | | | |!| | | | | |!| | | | | | | | | | |!| | | | | | }}
| |
| {{familytree | | | | |)| E01 | | | | | | | |)| E02 | | |`| E03 | | | | | | | |)| E04 | | |E01=TIRAP Deficiency, TIRAP, AR|E02=STAT1 GOF, STAT1, AD|E03=Trypanosomiasis APOL1, AD|E04=Acute liver failure due to NBAS deficiency, NBAS, AR }}
| |
| {{familytree | | | | |!| | | | | | | | | | |!| | | | | | | | | | | | | | | | |!| | | | | | }}
| |
| {{familytree | | | | |`| F01 | | | | | | | |)| F02 | | | | | | | | | | | | | |`| F03 | | |F01=Isolated Congenital Asplenia, RPSA, AD; HMOX, AR|F02=IL-17F Deficiency, IL-17F, AD|F03=Acute necrotizing encephalopathy, RANBP2, AD }}
| |
| {{familytree | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | |)| G01 | | | | | | | | | | | | | | | | | | | |G01=IL-17RA Deficiency, IL-17RA, AR }}
| |
| {{familytree | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | |)| H01 | | | | | | | | | | | | | | | | | | | |H01=IL-17RC Deficiency, IL-17RC, AR }}
| |
| {{familytree | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | |`| I01 | | | | | | | | | | | | | | | | | | | |I01=ACT1 Deficiency, ACT1, AR }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree/end}}
| |
|
| |
|
| |
| ==Algorithm==
| |
| {{familytree/start}}
| |
| {{familytree | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | | | |A01=Defects in Intrinsic & Innate Immunity: (B) MSMD & Viral Infections }}
| |
| {{familytree | | | | | |,|-|-|-|-|-|-|-|-|-|-|-|^|-|-|-|-|-|-|-|-|-|-|-|.| | | | | | | | | | }}
| |
| {{familytree | | | | | B01 | | | | | | | | | | | | | | | | | | | | | | B02 | | | | | | | | |B01=Mendelian susceptibility to mycobacterial disease(MSMD)|B02=Predominant susceptibility to viral infections }}
| |
| {{familytree | | |,|-|-|^|-|-|.| | | | | | | | | | | | |,|-|-|-|-|-|-|-|+|-|-|-|-|-|-|.| | | }}
| |
| {{familytree | | C01 | | | | C02 | | | | | | | | | | | C03 | | | | | | C04 | | | | | C05 | |C01=Severe Phenotypes|C02=Moderate Phenotypes|C03=Epidermodysplasia verruciformis(HPV)|C04=Predisposition to severe viral infections|C05=Herpes simplex encephalitis }}
| |
| {{familytree | | |!| | | | | |!| | | | | | | | | | | | |!| | | | | | | |!| | | | | | | | | | }}
| |
| {{familytree | | D01 | | | | |)| D02 | | | | | | | | | |)| D03 | | | | |)| D04 | | | | | | |D01=Complete IFNGR1 def: and IFNGR2 def:, IFNGR1,IFNGR2,AR|D02=IL12 & 23 receptor B1 chain def:, IL12P40 def:, STAT1 LOF, Partial IFNYR1 & 2, AD IFNGR1, TyK2 def:|D03=EVER1 def:, TMC6, AR|D04=STAT1 def: (AR LOF)}}
| |
| {{familytree | | | | | | | | |!| | | | | | | | | | | | |!| | | | | | | |!| | | | | | | | | | }}
| |
| {{familytree | | | | | | | | |`| E01 | | | | | | | | | |)| E02 | | | | |)| E03 | | | | | | |E01=ISG15 def:, ISG15,AR; Macrophage Gp91 Phox def:CYBB,XL,IRG8 def:,IRF8,AD; IRF8 def:, IRF8 AR; RORc def:, ROCR,AR; JACK1(LOF),JAK1,AR|E02=EVER2 def:, TMC8,AR|E03=STAT2 def: (STAT2 AR) }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | |!| | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | |`| F01 | | | | |)| F02 | | | | | | |F01=WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) Syndrome, CXCR4, AD,GOF|F02=IRF7 def: (IRF7,AR) }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |)| G01 | | | | | | |G02=IFNAR2 def: (IFNAR2,AR) }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |)| H01 | | | | | | |H01=CD16 def: (FCGR3A,AR) }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |`| I01 | | | | | | |I01=MDAS def: (LOF), IFIH1,AR }}
| |
| {{familytree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
| |
| {{familytree/end}}
| |
|
| |
|
| |
| ==Algorithm==
| |