Defects in intrinsic and innate immunity

Immunodeficiency Main Page
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Overview
Classification
Immunodeficiency Affecting Cellular and Humoral Immunity
Combined Immunodeficiency
Predominantly Antibody Deficiency
Diseases of Immune Dysregulation
Congenital Defects of Phagocytes
Defects in Intrinsic and Innate Immunity
Auto-inflammatory Disorders
Complement Deficiencies
Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Classification

Defects in Intrinsic & Innate Immunity

(A) Bacterial and Parasitic Infections

(B) MSMD & Viral Infections

Bacterial and Parasitic infections

Defects in Intrinsic & Innate Immunity: (A) Bacterial and Parasitic Infections

Predisposition to Invasive Bacterial Infections (pyrogens)

Predisposition to Parasitic & Fungal Infections

Others

IRAK4 Deficiency, IRAK4, AR, MyD88 Deficiency, MYD88, AR

Osteopetrosis

IRAK-1 Deficiency:IRAK1,XL

Predisposition to mucocutaneous candidiasis(CMC)

CARD9 Deficiency, CARD9, AR

Hyderadenitis Suppurativa

TIRAP Deficiency, TIRAP, AR

STAT1 GOF, STAT1, AD

Trypanosomiasis APOL1, AD

Acute liver failure due to NBAS deficiency, NBAS, AR

Isolated Congenital Asplenia, RPSA, AD; HMOX, AR

IL-17F Deficiency, IL-17F, AD

Acute necrotizing encephalopathy, RANBP2, AD

IL-17RA Deficiency, IL-17RA, AR

IL-17RC Deficiency, IL-17RC, AR

ACT1 Deficiency, ACT1, AR

MSMD and Viral Infections

Defects in Intrinsic & Innate Immunity: (B) MSMD & Viral Infections

Mendelian susceptibility to mycobacterial disease(MSMD)

Predominant susceptibility to viral infections

Severe Phenotypes

Moderate Phenotypes

Epidermodysplasia verruciformis(HPV)

Predisposition to severe viral infections

Herpes simplex encephalitis

Complete IFNGR1 def: and IFNGR2 def:, IFNGR1,IFNGR2,AR

IL12 & 23 receptor B1 chain def:, IL12P40 def:, STAT1 LOF, Partial IFNYR1 & 2, AD IFNGR1, TyK2 def:

EVER1 def:, TMC6, AR

STAT1 def: (AR LOF)

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

EVER2 def:, TMC8,AR

STAT2 def: (STAT2 AR)

WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) Syndrome, CXCR4, AD,GOF

IRF7 def: (IRF7,AR)

IFNAR2 def: (IFNAR2,AR)

CD16 def: (FCGR3A,AR)

MDAS def: (LOF), IFIH1,AR