Sandbox:Ali: Difference between revisions

Jump to navigation Jump to search
Line 115: Line 115:
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree/end}}
{{Family tree/start}}
{{Family tree | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | | | | | |A01=Combined Immunodeficiency Diseases with associated or syndromic features}}
{{Family tree | | |,|-|-|-|-|-|-|v|-|-|^|-|-|v|-|-|-|-|-|.| | | | | | | | | | | |}}
{{Family tree | | B01 | | | | | B02 | | | | B03 | | | | B04 | | | | | | | | | | | | | | | | | | | | | |B01=Congenital thromocytopenia|B02=DNA Repair Defects|B03=Immuno-osseous dysplasias|B04=Thymic Defects with additional congenital anomalies}}
{{Family tree | |!| | | | | | |!| | | | | |!| | | | | |!| | | | | | | | | | | | |}}
{{Family tree | |)| C01 | | | |)| D01 | | |)| E01 | | |)| F01 | | | | | | | | | | | | | | | |}}
{{Family tree | |!| | | | | | |!| | | | | |!| | | | | |!| | | | | | | | | | | | |}}
{{Family tree | |)| C02 | | | |)| D02 | | |)| E02 | | |)| F02 | | | | | | | | | | | | | | | |}}
{{Family tree | |!| | | | | | |!| | | | | |!| | | | | |!| | | | | | | | | | | | |}}
{{Family tree | |)| C03 | | | |)| D03 | | |)| E03 | | |)| F03 | | | | | | | | | | | | | | | |}}
{{Family tree | |!| | | | | | |!| | | | | |!| | | | | |!| | | | | | | | | | | | | |}}
{{Family tree | |`| C04 | | | |)| D04 | | |)| E04 | | |`| F04 | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | |!| | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D05 | | |`| E05 | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D06 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D07 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D08 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D09 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D10 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D11 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |)| D12 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | |`| D13 | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}

Revision as of 14:21, 5 October 2018


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2]

Overview

Classification

Immunodeficiency disorders are classified into two types:

  • Primary immunodeficiency
  • Secondary immunodeficiency

Primary immunodeficiency:

Primary immunodeficiency disorders
Phagocyte cell defects Decreased number

Functional Defects

Schwachman-Diamond Syndrome

G6PC3 deficiency

Cohen Syndrome

Barth Syndrome

Glycogen Storage Disease Type 1b

Clericuzio Syndrome

VPS45 deficiency

P14/LAMTOR2 deficiency

JAGN1 deficiency

3-methylglutaconic aciduria

SMARCD2 deficiency

WDR1 deficiency

HYOU1 deficiency

Elastase deficiency

HAX1 deficiency(Kostmann Disease)

GFI1 deficiency

G-CSF receptor deficiency

X-linked neutropenia /mylodysplasia WAS GOF

Neutropenia with combined immune deficiency

Cystic Fibrosis

Papillion-Lefèvre

Localized juvenile peridontitis

B-Actin

Leukocyte adhesion deficiency

GATA2 def (MonoMac sd)

Specific granule deficiency

Pulmonary alveolar proteinosis

Chronic Granulomatous Disease

Rac 2 def

G6PD def Class 1

Defects in Intrinsic and Innate immunity Predisposition to bacterial infections

\

Algorithms

 
 
 
 
 
 
 
 
 
 
Immunodeficiency affecting cellular and humoral immunity
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD19 NL: SCID T-ve B+ve
 
 
 
 
 
 
 
 
 
CD19 ↓: SCID T-ve B-ve
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SCID T-ve B+ve NK-ve
 
 
 
SCID T-ve B+ve NK+ve
 
 
 
SCID T-ve B-ve NK-ve
 
 
 
SCID T-ve B-ve NK+ve
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
yc deficiency
 
 
 
 
IL7Ra .
 
 
 
 
ADA def
 
Microcephaly present
 
 
Microcephaly absent
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
JAK-3 def
 
 
 
 
CD3D, CD3E, CD247
 
 
 
 
Reticular dysgenesis
 
 
 
DNA Ligase IV def
 
 
 
RAG1/2 def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD45 def
 
 
 
 
 
 
 
 
 
XLF def
 
 
 
DCLRE1C def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Coronin-1A def
 
 
 
 
 
 
 
 
 
DNA PKcs def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Winged helix def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Combined Immunodeficiency Diseases with associated or syndromic features
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Congenital thromocytopenia
 
 
 
 
DNA Repair Defects
 
 
 
Immuno-osseous dysplasias
 
 
 
Thymic Defects with additional congenital anomalies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ C01 }}}
 
 
 
 
 
{{{ D01 }}}
 
 
 
 
{{{ E01 }}}
 
 
 
 
{{{ F01 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ C02 }}}
 
 
 
 
 
{{{ D02 }}}
 
 
 
 
{{{ E02 }}}
 
 
 
 
{{{ F02 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ C03 }}}
 
 
 
 
 
{{{ D03 }}}
 
 
 
 
{{{ E03 }}}
 
 
 
 
{{{ F03 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ C04 }}}
 
 
 
 
 
{{{ D04 }}}
 
 
 
 
{{{ E04 }}}
 
 
 
 
{{{ F04 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D05 }}}
 
 
 
 
{{{ E05 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D06 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D07 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D08 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D09 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D10 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D11 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D12 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
{{{ D13 }}}
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

=References