Magda Carneiro-Sampaio, MD, PhDHospital das Clínicas da Faculdade de Medicina

Universidade de São Paulo (FMUSP), Brazil

Primary ImmunodeficienciesPrimary Immunodeficiencies

in 910 Brazilian patients in 910 Brazilian patients

of different age groups of different age groups

910 consecutive patients with well-defined PIDs* followed-up at Hospital das Clínicas da FMUSP and grouped according to age at diagnosis:

5 - 10 years old: 169

2 - 5 years old: 141

< 2 years old: 118 patients

10 - 20 years old: 137

20 - 30 years old: 118

> 30 years old: 227

*Notarangelo et al. IUIS Experts Committee PID Classification JACI ; 124:1161, 2009

60different PIDs were identified

Ethnicity of Brazilian people results from a mixture of native Indian, Portuguese and African descents, who have been merging since XVIth century

In the last 120 years Brazil received significant Italian, Syrian-Lebanese and Japanese immigration

Fotos de Priscila Oliveira, 2010

Primary Immunodeficiencies (PID):

Hospital das Clínicas da FMUSP’s Series (N=910)

Predominantly Antibody Deficiencies

Combined T + B deficiencies

Phagocyte number and/or function def

Complement deficiencies

Other Well defined PID syndromes

Immune dysregulation diseases

Innate immunity defects

Autoinflammatory disorders

Magda Carneiro-Sampaio, Jorge E. Kalil, Alberto Duarte & cols, Primary Immunodeficiency Diseases in Brazilian Patients of Different Age Groups, 2010

Distribution of HC-FMUSP PID patients (N = 910) according to age groups and the main IUIS PID categories

0%

20%

40%

60%

80%

100%

< 2 2-5 5-10 10-20 20-30 > 30 Allgroups

Age (years)

Antibody def Combined def Phagocyte Other Well-def syndrImmun Dysreg Complem Def Autoinflam syndr Innate immun

2,5%

Distribution of the <2 years old patients (N=118)according to the main IUIS PID categories

Predominantly Antibody Deficiencies

Combined T + B deficiencies

Phagocyte number and/ or function def

Complement deficiencies

Other Well defined PID syndromes

Immune dysregulation diseases

Innate immunity defects

Autoinflammatory disorders

5%18%

(XLA, THI)

14%(DiGeorgeSyndrome)

21%(CGD)

2,5%

14%(HLH, IPEX)

25% (SCID)

1,5%

Distribution of the 2-5 years old patients (N=141)according to the main IUIS PID categories

Predominantly Antibody Deficiencies

Combined T + B deficiencies

Phagocyte number and/ or function def

Complement deficiencies

Other Well defined PID syndromes

Immune dysregulation diseases

Innate immunity defects

Autoinflammatory disorders

8%1%

8%

3,5%14%

16%

48%(XLA, THI, IgAD)

Age (years)

Gender distribution in different age groups of HC-FMUSP PID series (N = 910)

0

20

40

60

80

100

%

< 2 2-5 5-10 10-20 20-30 > 30

Age (years)

F

M

Highly significant findings in the comparison between <5 years old X >5 years old PID groups

Frequency %

p<5 years old( N=259)

>5 years old (N= 651)

Predominantly Antibody deficiencies

34% 75% <0.001

Combined T+ B deficiencies 13% 3% <0.001

Phagocyte number and/ or function defects

17% 5% <0.001

Immune dysregulation diseases 10% 2% <0.001

Male gender 71% 52% <0.0001

Hospital das Clínicas FMUSP

Dept of Internal Medicine (patients >20 years-old): Jorge Kalil, Cristina Kokron, Myrthes

Toledo Barros, Luiz Vicente Rizzo

Dept of Pediatrics (patients < 20 years-old): Magda Carneiro-Sampaio, Cristina Miuki

A Jacob, Antonio Pastorino, Angela Bueno F Fomin, Mayra Dorna, Leticia

Watanabe

Dept of Dermatology (patients with skin manifestations of all ages): Alberto Duarte,

Dewton Moraes-Vasconcelos, Anete Sevciovic Grumach

Clinical staff in charge of PID patients follow-up at Hospital das Clínicas da FMUSP

Faculdade de Medicina da Universidade de São Paulo