Resources on PID

Disease	Contributors	Clinical criteria for a probable diagnosis (= clinical diagnosis)	Suggestions for alternative diagnosis (i.e. if these criteria are not completely fulfilled)
Chronic granulomatous disease (CGD)	Maria Kanariou, Reinhard Sege	At least one of the following: • deep seated infection due to bacteria and/or fungi (abscesses, osteomyelitis, lymphadenitis) • recurrent pneumonia • lymphadenopathy and/or hepatomegaly and/or splenomegaly • obstructing/diffuse granulomata (gastrointestinal or urogenital tract) • chronic inflammatory manifestations (colitis, liver abscess and fistula formation) • failure to thrive • affected family member AND absent/significantly decreased respiratory burst (NBT or DHR, measured at least twice)
Shwachman-Diamond-syndrome	Nizar Mahlaoui, Jean Donadieu	Neutropenia AND Exocrine pancreatic failure AND at least one of the following: • enlargement of metaphyseal zones on bone X-rays • cognitive retardation or Behavioral problems
Papillon-Lefevre syndrome	Isabella Quinti, Steven Holland, Nizar Mahlaoui	Palmoplantar hyperkeratosis AND severe early onset periodontitis affecting both the deciduous and permanent teeth AND at least one of the following: • mild mental retardation • pyogenic infections • hyperhidrosis • intracranial calcifications • abnormal neutrophil function tests Differential diagnosis includes: allelic variants of PLS, such as Haim-Munk syndrome and prepubertal/aggressive periodontitis. Other diseases with similar dermatologic features include localized epidermolytic palmoplantar keratoderma, Howel-Evans syndrome, Greither's disease, and keratosis punctate.
MonoMAC (WILD)	Isabella Quinti, Andrew Cant	At least one of the following: • disseminated non-tubercolous mycobacterial infections • opportunistic fungal, and viral infections • familial myelodysplastic syndrome / acute myelogenous leukemia • pulmonary alveolar proteinosis • erythema nodosum • lymphedema • disseminated warts • anogenital dysplasia AND Monocytopenia, dendritic cell, B and NK lymphocytes lymphopenia AND Bone marrow hypocellularity, fibrosis, and multilineage dysplasia
Congenital neutropenia	Nizar Mahlaoui, Jean Donadieu	Neutropenia below 0.5 g/L measured on at least 3 occasions OR Neutropenia below 1 g/L measured on at least 3 occasions with at least one of the following: • deep seated infection due to bacteria and/or fungi • recurrent pneumonia • buccal and/or genital aphtous lesions or ulcerations • omphalitis • affected family member AND exclusion of secondary causes of neutropenia	For other patients with chronic neutropenia, please consider Unclassified phagocytic disorders.
Cyclic neutropenia	Nizar Mahlaoui David Edgar Stephan Ehl, Jean Donadieu	Cyclic fluctuation of Neutrophil counts (every 16 to 28 days) During these neutropenic episodes, symptoms are at least one of the following: • Increased susceptibility to infections • Oral apthae • Abdominal pain episodes
COHEN syndrome	Nizar Mahlaoui, Jean Donadieu, Ch. Klein	Chronic neutropenia. AND at least 2 of the followings: • intellectual deficiency (ID), • microcephaly, • facial dysmorphism, • slender extremities, • obesity, • progressive chorioretinal dystrophy
Clericuzio-type poikiloderma with neutropenia syndrome	Nizar Mahlaoui, Jean Donadieu, Ch. Klein	Chronic neutropenia, AND Poikiloderma, AND Recurrent infections, AND Pachyonychia, OR Palmo-plantar hyperkeratosis
Barth syndrome	Nizar Mahlaoui, Jean Donadieu, Ch. Klein	Male AND Cardiac features (Heart failure, dilated cardiomyopathy, left ventricular noncompaction, endocardial fibroelastosis, and serious disturbances of heart rhythm such as ventricular fibrillation or tachycardia AND Chronic Neutropenia AND at least one of the following • Neuromuscular features such as skeletal myopathy, hypotonia, delayed motor milestones, exercise intolerance, and abnormal fatigability. • Distinctive facial gestalt (most evident in infancy) • Growth delay is common in childhood