PID

Classification
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Fanconi anemia (type A-W): Mutations in the FANCA gene and about 20 other genes. NK cells decreased, B-T cells possibly normal. CNS, skeletal, skin, cardiac, GI tract or urogenital abnormalities, chromosomal fragility.
SAMD9 defect: GOF mutation in SAMD9 gene lead to intrauterine growth retardation, gonadal abnormalities, NNR insufficiency, MDS with chromosome 7 aberrations, susceptibility to infection, enteropathy, asplenia (MIRAGE) as well as familial normophosphatemic tumor calcinosis (see SAMD9 gene below.
Ataxia pancytopenia syndrome: Autosomal dominant GOF mutation in AMD9L gene lead to immunodeficiency and neurological abnormalities.
Dyskeratosis congenita: Autosomal recessive/dominant mutations in the DKC1 gene and approximately 12 other genes. Clinically bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticular skin pigmentation, microcephaly, neurological deficits.
BMFS1 (SRP72 defect): Autosomal dominant mutations in the SRP72 gene cause bone marrow failure and inner ear deafness.
BMFS5 defect: Autosomal dominant mutation in TP53 gene lead to erythroid hypoplasia and B cell defects.
Coats plus syndrome: Autosomal recessive mutation in SCN1 or CTC1 gene lead to intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, GI bleeding due to vascular ectasia, intracranial calcifications.