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
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