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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