Table 3.

Phagocyte dysfunction with syndromic disease.

Disease	Gene chromosome inheritance	Clinical features	G-SCF responsive	Risk of progression to MDS/AML	Evidence of successful HSCT	References
Cystic fibrosis transmembrane conductance regulator (CFTR)—dependent Leukocyte adhesion deficiency type IV (LAD IV)	CFTR 7q31.2 AR	Clinical features of cystic fibrosis	No	No	No	(56, 57)
Papillon-Lefevre	CTSC 11q14.2 AR	Palmoplantar keratoderma Periodontitis Premature loss of dentition Liver abscesses Pneumonia	Unknown	No	No	(58)
Localized juvenile periodontis	FPR-1 11q14.1 AR	Palmoplantar keratoderma Periodontitis Premature loss of dentition Liver abcess	Yes	No	No	(59)
ß-ACTIN	ACTB 7p22.1 AD	Developmental delay Recurrent infections Photosensitivity Thrombocytopenia Stomatitis	Unknown	Unkown	No	(60)
Leukocyte adhesion deficiency type I (LAD I)	ITGB 12q13.13 AR	Severe leucocytosis Severe recurrent bacterial infections impaired pus formation Delayed wound healing Delayed umbilical cord detachment	No	No	Yes Complicated by aGVHD Indicated in young patients with MSD, RIC/MAC both used Additional Thiotepa beneficial	(61–63)
Leukocyte adhesion deficiency type II (LAD II) Also known as CDG2C	SLC35C1 11p11.2 AR	Severe leucocytosis Recurrent bacterial infection Moderate to severe psychomotor retardation Mild to severe dysmorphism Impaired neutrophil motility Bombay blood group	No	No	No	(61–63)
Leukocyte adhesion deficiency type III (LAD III)	FERMT3 11q13.1 AR	Severe leucocytosis Recurrent bacterial infection Bleeding tendency	No	No	Yes Complicated by aGVHD, good in young patients with MSD, RIC/MAC both used, additional thiotepa indicated	(61–64)