Table 1.

Clinical data of the 16 X91‐CGD patients

Patients	X‐CGD variants	Date of birth	Date of diagnosis	Severe clinical signs	Minor clinical signs	Actual treatments
P1	X91–	12/22/13	01/20/15	–	Multiple abscessed skin lesions, splenomegaly	Prophylactic a
P2	X910	11/18/12	09/24/14	Prolonged fever	Inflammatory syndrome, xanthogranuloma (Serratia marcescens), tonsil adenophlegmon (Staphylococcus aureus), microcytic anemia due to martial deficiency, diarrhea, vomiting, rotavirus gastroenteritis	Prophylactic a
P3	X910	03/10/09	02/01/2012	Sepsis, hepato‐splenomegaly hepatic granuloma	Pallor, pustulosis, inflammatory syndrome, bloody diarrhea (Enterococcus faecium), multiple necrotic adenopathies (S. marcescens), hepatic cytolysis and cholestasis, failure to thrive	Prophylactic a
P4a b	X91–	02/04/86	10/18/2012	–	Mild childhood asthma, at teenage recurrent perianal abscesses, treated for Crohn disease, nose infection (S. aureus)	Prophylactic a
P4b a		1988	2012 postmortem	Aspergillus pneumonitis	–	–
P5	X910	07/29/12	04/01/14	Pulmonary abscesses (S. constellatus)	Neonatal pustular melanosis, eosinophilic pancolitis, maculo‐papular skin rash	Engraftment at 3 years of age. Joint chronic graft‐versus‐host disease. Complete chimerism
P6	X910	03/13/09	04/28/09	Severe sepsis, three outbreaks of pneumonia	–	Prophylactic a
P7	X910	06/20/16	06/22/17	–	Cervical adenitis, febrile (S. aureus), papular lesions, fungal infections in the penis, hypothermia, cyanosis	Prophylactic a
P8	X910	12/08/15	05/19/16	Hepatic abcesses	Fever, inflammatory syndrome, rotavirus gastroenteritis, cervical adenopathies, granuloma of the tonsil, perforated acute otitis, ileitis	Recent engraftment (HLA id.) with infectious complications and viral reactivation, persistent diarrhea 6 months post‐transplant
P9	X910	10/28/12	06/02/14	Prolonged fever, liver abscesses	–	Engraftment at 3 years of age, complete chimerism
						In good health
P10	X910	09/02/18	12/18/18	Bacteremia (S. aureus)	Reccurent suppurative inguinal (S. aureus)	Prophylactic a
P11	X910	10/14/14	03/15/17	Mycobacterium bovis infection	Recurrent suppurative lymphadenitis, pneumonia, other pulmonary bacterial infections	Prophylactic a
P12	X910	01/30/86	06/24/87	Sepsis (S. typhimurium), pulmonary aspergillosis	Suppurative inguinal adenopathies (Candida albicans), furonculosis (Klebsiella pneumoniae), cervical adenopathy (Streptoccocus), balano‐prepucial fistula, recurrent cold sores	Prophylactic a
P13	X910	09/07/13	07/20/16	Abscess of the mediastinum, bacteremia, bacterial pneumonia, suspected Noonan syndrome	Cervical lymphadenitis, BCGitis	Prophylactic a
P14	X910	02/16/83	12/02/10	Bone infection (Aspergillus sp.) treated by laminectomy, permanent respiratory failure (restrictive and obstructive)	Peritonsillar abcess	Prophylactic a corticotherapy, hydroxychloroquine, amethopterine, permanent oxygenotherapy
P15	X91+	12/19/03	09/20/09	Prolonged fever, pulmonary abcess	Cervical adenopathy, BCGititis, abscess of the anal margin, acute appendicitis, diarrhea, chronic inflammation syndrome	Prophylactic a
P16	X910	01/21/13	06/30/16	Liver abcesses	Cervical adenitis	Engraftment at 16 months years of age, acute intestinal graft versus host disease. Bronchiolitis obliterans syndrome, complete chimerism

^aTrimethoprim‐sulfamethoxazole and itraconazole

^bP4a and P4b are brothers. P4b died aged 24 years. At that time CGD diagnosis was performed for him and his brother P4a.

^†Dead patient.

Patients with new mutations are shown in bold type.

HLA = human leucocyte antigen; CGD = chronic granulomatous disease; – = absence of clinical signs.