Primary immunodeficiency disease: a retrospective study of 112 Chinese children in a single tertiary care center

BMC Pediatrics

Table 1 Distribution of PIDs according to the International Union of Immunological Societies criteria

Type	No. of Cases (%)
Immunodeficiencies affecting cellular and humoral immunity	59 (28.6)
SCID	32
HIGM	27
Combined immunodeficiencies with associated or syndromic features	14 (12.5)
WAS	9
DKC	2
DGS	1
EDA-ID	1
HIES	1
Predominantly antibody deficiencies	20 (17.8)
Severe reduction in all serum immunologlobulin isotypes with profoundly decreased or absent B cells	16
CVID	3
APDS	1
Diseases of immune dysregulation	4 (3.6)
IPEX syndrome	2
Immune dysregulation with colitis	1
CHS	1
Congenital defects of phagocyte number or function	12 (10.7)
CGD	7
Congenital neutropenias	5
Defects in intrinsic and innate immunity	2 (1.8)
IFN-γ receptor deficiency	1
Predisposition to invasive fungal diseases (CARD9 deficiency)	1
Complement deficiencies	1 (0.9)
Complement deficiencies	1

Abbreviations: APDS activated PI3Kδ syndrome immunodeficiency, CGD chronic granulomatous disease, CHS Chediak-Higashi syndrome, CVID common variable immunodeficiency disorders, DGS DiGeorge syndrome, DKC dyskeratosis congenital, EDA-ID anhidrotic ectodermodysplasia with immunodeficiency, HIGM hyper-IgM syndrome, HIES Hyper-IgE syndromes, IPEX immunodysregulation, polyendocrinopathy, enteropathy X-linked syndrome, SCID severe combined immune deficiency, WAS Wiskott–Aldrich syndrome, XLA X-linked agammaglobulinemia

ISSN: 1471-2431