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

Hyper-IgE syndromes(HIES)

Dyskeratosis congenita (DKC)

Defects of Vitamin B12 and Folate metabolism

Anhidrotic Ectodermodysplasia with ID

Others

Wiskott Aldrich Syndrome

Ataxia telangiectasia

Cartilage Hair Hypoplasia

DiDeorge Syndrome

Job Syndrome

Dyskeratosis congenita

Transcobalmin 2 deficiency

NEMO deficiency

Purine nucleoside phosphorylase deficiency

XL thrombocytopenia

Nijmegen breakage Syndrome

Schimke Syndrome

TBX1 deficiency

Comel Netherton Syndrome

COATS plus syndrome

Deficiency causing hereditary folate malabsorption

EDA-ID due to IKBA GOF mutation

ID with multiple intestinal atresias

WIP deficiency

Bloom syndrome

MYSM1 deficiency

Chromosome 10p13-p14 deletion Syndrome

PGM3 deficiency

SAMD9

Methylene-tetrahydrofolate-dehydrogenase 1 deficiency

Hepatic veno-occlusive disease with immunodeficiency

ARPC1B deficiency

PMS2 deficiency

MOPD1 deficiency

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SAMD9L

Vici Syndrome

Immunodeficiency with centromeric instability and facial anomalies(ICF1, ICF2, ICF3, ICF4)

EXTL3 deficiency

HOIL1 deficiency, HOIP1 deficiency

MCM4 deficiency

Calcium Channel Defects(ORAI-1 deficiency, STIM1 deficiency)

RNF168 deficiency

Hennekam-lymphangiectasia-lymphedema syndrome

POLE1 deficiency

STAT5b deficiency

POLE2 deficiency

Kabuki Syndrome

NSMCE3 deficiency

ERCC6L2(Hebo deficiency)

Ligase 1 deficiency

GINS1 deficiency

Phenocopies of PID

Associated with Somatic Mutations

Associated with Auto-Antibodies

ALPS-SFAS

Chronic mucocutaneous candidiasis

RALD(RAS-associated autoimmune leukoproliferative disease)

Adult-onset immunodeficiency with susceptibility to mycobacteria

Cryopyrinopathy(Muckle-Wells Syndrome)

Recurrentt skin infections

Hypereosinophilic syndrome due to somatic mutations in STAT5b

Pulmonary alveolar proteinosis

Acquired angiooedema

Atypical Hemolytic Uremic Syndrome

Thymoma with hypogammaglobulinemia

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