Disorders of innate immunity [DS:H02525]
Disorders of adaptive immunity [DS:H02526]
Other well-defined immunodeficiency syndromes [DS:H00107]

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Primary immunodeficiency.

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Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency.

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Blood 136:1055-1066 (2020)
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Hum Mol Genet 30:226-233 (2021)
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Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.

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SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Blood 138:1019-1033 (2021)
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Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal alpha-toxin.

Science 376:eabm6380 (2022)
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Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

J Allergy Clin Immunol 144:1364-1376 (2019)
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Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

J Allergy Clin Immunol 144:574-583.e5 (2019)
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Harapas CR, Robinson KS, Lay K, Wong J, Moreno Traspas R, Nabavizadeh N, Rass-Rothschild A, Boisson B, Drutman SB, Laohamonthonkul P, Bonner D, Xiong JR, Gorrell MD, Davidson S, Yu CH, Fleming MD, Gudera J, Stein J, Ben-Harosh M, Groopman E, Shimamura A, Tamary H, Kayserili H, Hatipoglu N, Casanova JL, Bernstein JA, Zhong FL, Masters SL, Reversade B

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.

Sci Immunol 7:eabi4611 (2022)
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Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.

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Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

Blood 141:3226-3230 (2023)
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Human MCTS1-dependent translation of JAK2 is essential for IFN-gamma immunity to mycobacteria.

Cell 186:5114-5134.e27 (2023)
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FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.

Cell 187:2817-2837.e31 (2024)
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The immunopathological landscape of human pre-TCRalpha deficiency: From rare to common variants.

Science 383:eadh4059 (2024)
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Urban B, Batlle-Maso L, Perurena-Prieto J, Garcia-Prat M, Parra-Martinez A, Aguilo-Cucurull A, Martinez-Gallo M, Moushib L, Antolin M, Riviere JG, Soler-Palacin P, Dieli-Crimi R, Franco-Jarava C, Colobran R

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

J Clin Immunol 45:47 (2024)
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Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency.

Nature 628:620-629 (2024)
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