. Author manuscript; available in PMC: 2018 Oct 5.

Published in final edited form as: J Allergy Clin Immunol. 2011 Nov 12;129(1):176–183. doi: 10.1016/j.jaci.2011.10.005

Table 1.

Patient characteristics of 11 children with CGD

	Age at CGD diagnosis (dx)	Age at HSCT	Gender	Ethnicity 1	Genetics	Stimulation Index (SI) at dx	Pre-HSCT Infections (isolation;age at diagnosis)	Comorbidities	HSCT Type/ Risk	Outcome Post-HSCT
1	2 weeks	30 mos	M	C	X-linked gp91^phox	2	S. aureus Otitis (Culture; 2 yrs )	Molluscum^a, URTI associated wheezing^a	MRD	-Mixed chimerism
2	14 months	45 mos	M	C	X-linked gp91^phox	2	*Burkholderia* cepacia Pneumonia (Lung bx; 11 mos )	Asthma^a^,^b, Pulmonary nodules^a^,^b	MUD	-Skin grade 1 aGvHD
3	8 months	41 mos	F	H	AR gp67^phox	1	*Serratia* *Marcescens* Osteomyelitis (Bone aspirate; 8 mos)	Iron deficiency anemia^a, Transaminitis^a, Chronic lung cysts^a^,^b	MRD ^*	-Adenovirus in plasma (resolved w/o intervention)
4	36 months	8.3 years	M	H	X-linked gp91^phox	1	*Aspergillus species* Pneumonia (Lung biopsy; 5 years)	G tube for poor feeding^a, Chronic pulmonary nodules^a^,^b, Asthma^a^,^b	MUD ^*	-CMV reactivation (Rx meds) -Aspergillus Pneumonia
5	6 months	11 mos	M	H	X-linked gp91^phox	1	S. aureus Abcess (Surgical wound I&D; 6 mos)	Perirectal abcesses^a, Chronic diarrhea^a	MUD	-Skin grade 1 aGvHD
6	6 weeks	6.4 years	F	A	AR (no molecular testing)2	3	*B. cepacia* Pneumonia (Lung biopsy; 5 yrs) *Aspergillus niger* Pneumonia (Lung biopsy; 5.5 yrs)	Neonatal HIV exposure^a, Chronic cystic lung disease^a^,^b	MUD ^*	-EBV reactivation (resolved w/o intervention)
7	4.5 years	5.9 years	M	C	X-linked gp91^phox	1	*B. cepacia* Osteomyelitis, Bacteremia (Bone I&D; 4.5 yrs)	Weakness^a, Voriconazole sensitivity^a, Chronic lung disease^a^,^b	MUD ^*	-AIHA tx with steroids po (14 months post HSCT)
8	2.5 months	18 mos	M	H	X-linked (no molecular testing)2	2	*Candida albicans* Abcess & Bacteremia (Surgical I&D; 1 yr)	Lymphadenitis^a, Perirectal abcess^a, Transaminitis^a	MRD ^*	-CMV reactivation (Meds RX) -Mixed Chimerism
9	9 months	7.4 years	M	C	X-linked (no molecular testing)2	1	*B. gladioli* Osteomyeletis (Bone biopsy; 5.8yrs)	Hearing loss^a^,^b, Eosinophilic cystitis^a, Drug induced lupus^a	MUD	-Skin grade 1 aGvHD
10	3 weeks	50 mos	M	C	X-linked gp91^phox	1	*Serratia* marcescens Liver Abcess (Liver biopsy; 2 weeks) *Aspergillus* *fumigatus* Pneumonia (Lung biopsy;1 mo)	CGD colitis^a, Transaminitis^a, Asthma^a^,^b	MRD ^*	-Skin grade 1 aGvHD -Busulfan related seizures -Adenovirus of stool ( resolved w/o intervention)
11	2.5 months	13 years	M	C	X-linked ( negative molecular testing, negative sequencing)2	1	*Presumed* *Aspergillus* Pneumonia (Lung biopsy with hyphae; 8 yrs ); S.Aureus Perirectal Abcess (Surgical I&D; 10 yrs)	Perirectal abcess^a, Recurrent lymph- adenitis^a, Chronic pulmonary nodules^a^,^b	MUD ^*	-Hashimoto’s Thyroiditis (17 months post HSCT)

1: C =Caucasian, H= Hispanic, A=African American

2: Pt #6 had no molecular testing and no family history of CGD. Pts # 8, 9, 11 all had mothers with NBT findings consistent with X-linked carrier status with 2 populations of granulocytes (normal and poor oxidative burst). Pt#9 with younger brother with demise at 1 year of age with B. cepacia and granulomas in liver/lungs. Pt#11 with negative CYBB/CYBA mutations and full sequencing did not identify a known CGD associated mutation.

Comorbidities pre HSCT

Comorbidities post HSCT

High risk patients (ongoing treatement/prophylaxis for known infections and/or significant pulmonary inflammation by imaging: ongoing granulomas)

URTI (Upper Respiratory Tract Infection)

AIHA (Autoimmune Hemolytic Anemia)