Sandbox:Ali

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

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

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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

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Wiskott Aldrich Syndrome

Ataxia telangiectasia

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