Severe Combined Immunodeficiency

(SCID)
IMMUNOLOGY
Presented by: Garima Upadhyay
Roll. No: 226626
 Table of contents

01 02 03
Introduction Types Symptoms

04 05
Diagnosis Treatment
Introduction:
Immunodeficiency disorders: Weaken the immune system, allowing
infections and other health problems to occur more easily.

Primary immunodeficiency disease: It is a group of more than 300 rare,

chronic disorders in which a part of the body’s immune system is missing
or function improperly.

SCID: Severe combined immunodeficiency (SCID) is very

rare genetic disorder that causes life-threatening problems with
the immune system. It is a type of primary immune deficiency.

SCID is a severe form of heritable immunodeficiency.

About 1 in 58,000 babies are born with SCID in the U.S. each year.

X-linked SCID
Female are 50 % carrier and
male are 100% affected
Omenn syndrome
Inherited disorder of the
immune system, develop
autoimmunity.
Types of SCID
JAK 3 Adenosine deaminase
deficiency
Loss of function JAK protein
results in the absence of T Metabolic disorder that cause
cells and NK cells and B immunodeficiency mutations in
cells. the ADA gene, responsible for
converting deoxyadenosine to
deoxyinosine .
DCLRE 1C Bare lymphocyte
syndrome
Artemis is protein in the pathway
Inherited condition of the immune
that mediates repair of dsDNA
system, shortage of specialized
breaks by NHEJ this process is
immune proteins called MHC class I
required for T cell and B cell
proteins on cells, WBC.
recombination.
 Symptoms of the disease

Development delays

Shortness breath

Recurrent infection Pneumonia

Skin rashes
Chronic diarehea
 Diagnosis

HIV Test Immunoglobulin Protein

level in the body Electrophoresis

Complete Blood WBC count

Count
 Treatment
Enzyme therapy

Bone marrow transplant

Gene therapy

Immunoglobulin
Replacement
 Prevention

Newborn Vaccination and Isolation and

Screening Supportive Care
Infection Hygiene
Control
 Reference

https://
www.stanfordchildrens.org/en/topic/default?id=severe-combined-immunodeficiency-scid-
90-P01706

https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/severe-combi
ned-immunodeficiency-scid#:~:text=Severe%20Combined%20Immunodeficiency%20(SCID%
2C%20pronounced,transplant%20or%20corrective%20gene%20therapy
.

https://www.chop.edu/conditions-diseases/severe-combined-immunodeficiency-scid

Thanks!